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Related Terms
  • BBS, Biedl-Bardet syndrome, Laurence-Bardet-Biedl syndrome, Laurence-Moon syndrome (LMS), Laurence-Moon-Bardet-Biedl syndrome (LMBBS), Laurence-Moon-Biedl syndrome.

Background
  • Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects many areas of the body, primarily the eyes, hands, feet, genitals, and kidneys. In addition, people with BBS tend to be obese, have intellectual disabilities, and be at increased risk of diabetes, high blood pressure, and heart disease. In most people with BBS, visual impairment progresses to legal blindness by about age 16.
  • BBS overlaps with a condition known as Laurence-Moon syndrome. Controversy still exists as to whether these two syndromes are in fact distinct entities. Ultimately, BBS is distinguished from Laurence-Moon syndrome based on which genes are affected. However, one of the genetic mutations that cause BBS has also been found in individuals with Laurence-Moon syndrome, which illustrates the difficulty in distinguishing the two.
  • There are 14 types of BBS, each of which is caused by a different genetic mutation. These 14 genes are BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, MKKS/BBS6, BBS7, TTC8/BBS8, B1/BBS9, C12ORF58/BBS10, TRIM/BBS11, C4ORF24/FLJ35630/BBS12, FLJ20345/MKS1, and CEP290. Most people with BBS have mutations in BBS1 or BBS10. These genes provide instructions for making several proteins, many of which are poorly understood.
  • BBS is usually inherited (passed down among family members) as an autosomal recessive trait. An individual inherits two copies of most genes, one from the mother and one from the father. To inherit an autosomal recessive disorder, an individual must inherit two defective copies of the mutated gene.
  • The prevalence of BBS in Europe and the United States ranges from one in 100,000 to one in 160,000. Research indicates that the prevalence of BBS is higher among people from Kuwait (about one in 13,500), where parents are frequently consanguineous (closely related). The prevalence in Newfoundland is estimated at about one in 17,500.
  • There is no known cure for BBS, but treatment focuses on the management of symptoms and prevention of complications.

Signs and symptoms
  • Cognitive function: A significant number of people with Bardet-Biedl syndrome (BBS) have learning and intellectual disabilities. These are typically not severe and may be associated with vision loss, which may impair an individual's ability to read and learn.
  • Eyes: People with BBS tend to have eye problems that worsen with time. The cells in the eyes that receive light (rods and cones) gradually deteriorate, which eventually leads to blindness. Most children with BBS lose the ability to see at night by age eight. Many become legally blind by age 16. Other eye problems may include nystagmus (involuntary eye movements), strabismus (crossed eyes), myopia (nearsightedness), cataract (clouding of the eye lens), and glaucoma (increased pressure in the eyes).
  • Face: People with BBS may have a distinctive facial appearance that includes a large, broad head, narrow temples, large ears, a thin upper lip, a small downturned mouth, and balding in the front of the hairline in males. The two sides of the face may not be symmetrical.
  • Genitals: In males with BBS, the penis and testes tend to be small and underdeveloped. Females may have structural abnormalities with the urinary system and genitals, such as problems with the Fallopian tubes, uterus, and ovaries. While there have been several reports of females with BBS bearing children, there have been only about two reports of males with BBS fathering children. It is unknown whether this is because of decreased male fertility in males with BBS.
  • Hands and feet: About 60-70% of people with BBS have an extra finger near the little finger or an extra toe near the little toe. Other symptoms that affect the hands and feet include short fingers and toes, fused fingers and toes, abnormal curvature of the little finger, and an abnormal gap between the first and second toes. These abnormalities may limit fine motor skills.
  • Kidneys: Many people with BBS have problems with the structure of the urinary system and kidneys. The ability to urinate may be affected by these structural abnormalities. Kidney problems can become severe and lead to life-threatening complications, such as kidney failure.
  • Obesity: People with BBS tend to have truncal or abdominal obesity (increased fatty tissue in the center or trunk of the body). Infants with BBS may have a normal birthweight but rapidly gain weight during the first year of life. Many people with BBS struggle with weight issues throughout their lives.
  • Other: Other problems associated with BBS include diabetes, high blood pressure, heart disease, impaired speech, poor coordination, abnormal gait, hearing loss, and psychological problems, including depression, anxiety, bipolar disorder, and obsessive-compulsive disorder.

Diagnosis
  • General: Diagnosis of Bardet-Biedl syndrome (BBS) may be delayed because of the slow and variable appearance of signs and symptoms. The primary features of BBS include progressive vision loss, extra fingers and toes, learning disability, underdeveloped or abnormal genitalia, abdominal obesity, and kidney problems. Secondary features include speech impairment, short or fused fingers or toes, developmental delays, increased hunger or thirst, liver problems, heart problems, dental problems, poor coordination, overdeveloped muscles in the lower body, and eye problems, such as involuntary eye movements, crossed eyes, nearsightedness, cataracts, or glaucoma.
  • Physical exam: A thorough physical exam and family history should be conducted. Patient interview questions should focus on eating and drinking habits, the pattern of weight gain, behavior, and the achievement of developmental milestones. A clinician should examine the hands and feet for extra fingers and toes and other abnormalities, the external genitals for abnormalities, the lower body muscles for overdevelopment, and the mouth for dental problems. Height and weight should be assessed to determine growth percentiles, and gait and coordination should be assessed using a standard neurological exam.
  • Eye exam: A thorough eye exam may identify nystagmus (involuntary eye movements),strabismus (crossing of the eyes),cataract (clouding of the lens of the eye), and glaucoma (increased pressure in the eye). A special test called an electroretinogram can help identify problems with the rod and cone cells of the retina.
  • Hearing test: A hearing test, called an audiogram, may help diagnose BBS. During an audiogram, the patient wears headphones and is exposed to various sounds of different pitches and frequencies. The patient is asked to identify when each sound is heard. The audiologist may also use speech to evaluate the patient's hearing ability.
  • Fasting blood glucose test: Fasting blood glucose testing can check for the presence of diabetes. This test measures blood glucose levels after the patient has fasted for 12-14 hours. The individual may drink water during this time but must avoid any other beverage. Individuals with diabetes may be asked to delay taking their diabetes medication or insulin dose until the test is completed. This test can be used to diagnose diabetes or prediabetes. The fasting plasma glucose (FPG) test is preferred for diagnosing diabetes because of its convenience. The FPG test is most reliable when done on an empty stomach in the morning, so that the presence of food and natural biorhythms do not cause fluctuations in blood sugar levels. If the fasting glucose level is 100-125 milligrams per deciliter, the individual has a form of prediabetes called impaired fasting glucose (IFG), meaning that the individual is more likely to develop type 2 diabetes but does not have the condition yet. A fasting glucose level of 126 milligrams per deciliter or above, confirmed by repeating the test on another day, means that the individual has diabetes.
  • Oral glucose tolerance test: An oral glucose tolerance test may also be used to diagnose diabetes in an individual with BBS. During an oral glucose tolerance test, a high-glucose drink is given to the individual. Blood samples are checked at regular intervals for two hours to determine how rapidly glucose is cleared from the blood. Glucose tolerance tests are used when the results of the fasting blood glucose test are borderline. They are also used to diagnose gestational diabetes (diabetes in pregnancy). This test can be used to diagnose diabetes or prediabetes.
  • Hemoglobin A1c: The hemoglobin A1c test is used to assess blood glucose control in individuals with diabetes. This test may be useful in some individuals with BBS who are prone to developing diabetes. Hemoglobin A1c, also known as glycated hemoglobin or glycosylated hemoglobin, analyzes a sample of blood to indicate an individual's average blood sugar control over the last 2-3 months. Glucose (sugar) in the bloodstream can become attached to the hemoglobin, the part of the cell that carries oxygen, in red blood cells. This process is called glycosylation. Once the sugar is attached, it remains there for the life of the red blood cell, about 120 days. The more sugar that attaches to red blood cells, the higher the level of blood sugar. The hemoglobin A1c test measures the amount of sugar adhering to the hemoglobin in the red blood cells. A1c is formed when glucose in the blood binds irreversibly to hemoglobin to form a stable glycated hemoglobin complex. A1c values are not subject to the fluctuations seen with daily blood glucose monitoring.
  • Kidney ultrasound: An ultrasound, which uses sound waves to create an image of internal organs, can be used to assess the structure and function of the kidneys. Structural abnormalities that may be present in BBS include the presence of fibrous tissue.
  • Echocardiogram: An echocardiogram is a special test that uses sound waves to create a moving image of the heart. This test can be used to assess the structure and function of the heart.
  • Fetal ultrasound: Although ultrasound cannot directly diagnose BBS in a developing fetus, it may help identify distinctive characteristics, such as extra fingers and toes.
  • Genetic testing: If BBS is suspected, a genetic test may be performed to confirm a diagnosis. A sample of the patient's blood is taken and analyzed to detect the presence of the mutated gene. If this gene is detected, a positive diagnosis can be made.
  • Prenatal DNA testing: If there is a family history of BBS, prenatal testing may be performed to determine whether the fetus has the disorder. Amniocentesis and chorionic villus sampling (CVS) can diagnose BBS. However, because there are risks associated with these tests, patients should discuss the potential health benefits and risks with a medical professional.
  • During amniocentesis, a long, thin needle is inserted through the abdominal wall and into the amniotic cavity, the sac surrounding the fetus within the uterus, and a small amount of fluid is removed. Cells in the fluid are then analyzed for normal and abnormal chromosomes. This test is usually performed between 14 and 20 weeks of pregnancy. At some facilities, it can be performed as early as at 11 weeks. The risk of miscarriage is about one in 200-400. Some patients may experience minor complications, such as cramping, leaking fluid, or irritation where the needle was inserted.
  • During chorionic villus sampling (CVS), a small piece of tissue (chorionic villi) is removed from the placenta between the ninth and 14th week of pregnancy. CVS may be performed through the cervix or through the abdomen. The cells in the tissue sample are then analyzed for the presence of the mutated gene. Miscarriage occurs in about 0.5-1% of women who undergo this procedure.

Complications
  • Diabetes: Individuals with Bardet-Biedl syndrome (BBS) are at increased risk of developing diabetes. This may be because of the presence of obesity, which also increases diabetes risk, or specific genetic defects responsible for BBS. With diabetes, the body cannot properly break down and use sugar for energy. Either the pancreas does not produce enough insulin, which is necessary to absorb dietary sugar and carbohydrates, or the body is not able to utilize insulin properly. This causes an increase of glucose (sugar) in the blood, which can cause damage to the heart, blood vessels, kidneys, eyes, and nerves. In addition, the cells of the body do not get adequate energy.
  • Complications of diabetes are divided into two major categories: macrovascular and microvascular. Macrovascular (large blood vessel) complications affect the heart. Microvascular (small blood vessel) complications affect the small blood vessels, especially in the eyes, kidneys, and nerves. Macrovascular complications can lead to heart disease and stroke. Microvascular complications can lead to vision problems, blindness, kidney failure, and nerve damage.
  • Heart disease: Individuals with BBS may develop heart disease caused by obesity, diabetes, and high blood cholesterol levels. They are also susceptible to atherosclerosis, the accumulation of cholesterol-laden plaques in arterial walls. Plaque accumulation causes a narrowing and a loss of elasticity of the arteries, which is sometimes referred to as hardening of the arteries.
  • Kidney disease: Kidney problems may range from mild to severe and can be life-threatening if not assessed and treated appropriately. These may include protein in the urine and glomerulonephritis, which is caused by inflammation of the kidney structures that help to filter out waste and fluids.

Treatment
  • General: There is no cure for Bardet-Biedl syndrome (BBS). Treatment focuses on reducing symptoms and preventing complications.
  • Education: Patients with BBS must have access to education tailored to their specific strengths and weaknesses. According to the Individuals with Disabilities Education Act, all children with disabilities must receive free and appropriate education. According to this law, staff members of the child's school must consult with the child's parents or caregivers to develop an individualized education plan. The school faculty should document the child's progress in order to ensure that the child's needs are being met.
  • Educational programs vary among patients. In general, most experts believe that children with disabilities should be educated alongside their nondisabled peers. The concept is that nondisabled students will help the disabled student learn appropriate behavioral, social, and language skills. For this reason, some children with BBS are educated in mainstream classrooms. Some children with BBS attend public schools but take special education classes, while others attend specialized schools for children with disabilities.
  • Speech-language therapy: Some children with BBS may benefit from speech-language therapy because they often develop communication skills at a slower-than-normal rate. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or in a classroom. This therapy helps the patient improve speech, language, and communication skills. Programs are tailored to the patient's individual needs.
  • Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically begin at a low level and become more complex as therapy continues. For instance, the therapist may ask the patient to name objects, tell stories, or explain the purpose of an object.
  • Visual assistance: Eyeglasses may improve vision in people with BBS who are nearsighted. Because almost all people with BBS progressively lose vision, they should be instructed in the use of Braille, adaptive equipment, mobility aids, and special computing skills early in life.
  • Hearing aids: People with BBS who experience hearing loss may benefit from hearing aids. These battery-operated devices are available in three basic styles: behind the ear, in the ear, and in the ear canal. Patients should talk to their healthcare providers to determine the type of hearing aid that is best for them. A behind-the-ear device is used for mild-to-profound hearing loss. The device is worn behind the ear and is attached to a plastic ear mold inside the outer ear. In-the-ear hearing aids are worn inside the outer ear and are used for mild-to-severe hearing loss. Canal hearing aids are smaller aids that fit inside the patient's auditory canal. They are used for mild-to-moderately severe hearing loss. Some patients with severe hearing loss may benefit from cochlear implants. These electronic devices are surgically implanted in the cochlea (inner ear). Unlike a hearing aid, which amplifies sound, a cochlear implant makes up for damaged parts of the inner ear.
  • Diet: Consuming a healthful and appropriate diet is essential for people with BBS. Proper diet can help these individuals reduce the risks of obesity, heart disease, and diabetes. The progression of diabetes may be slowed by consuming a diet low in sugars and high in vegetables, whole grains, and lean protein. In fact, diet and exercise are often the first line of treatment for diabetes. An ideal diet for an individual with diabetes can be planned with a registered dietitian or certified diabetes educator.
  • Physical activity: People with BBS should follow a regular schedule of physical activity that is planned under the supervision of a qualified healthcare provider such as a physician. Exercise not only reduces obesity but also helps with the control of blood sugar levels.
  • Oral diabetes medications: A number of different drugs can be taken by mouth to treat diabetes. Some of these drugs can be combined into a single pill, which may be more effective and convenient than taking multiple drugs. Sulfonylureas, such as chlorpropamide (Diabinese®), glipizide (Glucotrol®), glyburide (Micronase®, Glynase®, DiaBeta®), and glimepiride (Amaryl®), work by stimulating the cells of the pancreas to release more insulin. These drugs are taken once or twice daily by mouth before meals. Side effects may include an unsafe drop in blood sugar.
  • Meglitinides, such as repaglinide (Prandin®) and nateglinide (Starlix®), also stimulate the cells of the pancreas to release more insulin. These drugs are taken by mouth before each meal and may also cause an unsafe drop in blood sugar.
  • Metformin (Glucophage®) is a biguanide drug that decreases the amount of blood sugar released by the liver and stimulates cells in the muscles to take up blood sugar. Metformin is usually taken twice daily and may cause stomach discomfort.
  • Thiazolidinediones, such as rosiglitazone (Avandia®) and pioglitazone (Actos®), are drugs that help insulin work better in the muscle and fat cells and cause the liver to release less glucose. These drugs may be associated with heart failure, and their use should be thoroughly discussed with a qualified healthcare provider, including a pharmacist.
  • DPP-4 inhibitors, such as sitagliptin (Januvia®), are drugs that improve levels of blood sugar by decreasing the action of an enzyme that breaks down GLP-1, a substance that naturally lowers blood sugar levels.
  • Alpha-glucosidase inhibitors, such as acarbose (Precose®) and miglitol (Glyset®), block the breakdown of certain carbohydrates so that they are excreted from the body. Side effects include intestinal gas and diarrhea.
  • Injected diabetes medications: Other diabetes drugs can be taken by injection into the muscle. Pramlintide (Symlin®) is the synthetic form of a hormone that naturally occurs in the human body. Taken with meals, pramlintide helps maintain normal levels of blood sugar but may cause nausea.
  • Exenatide (Byetta®) is a synthetic form of exendin-4, a substance that naturally occurs in the body. This substance helps increase insulin secretion from the pancreas. It may cause nausea, but this side effect usually decreases with continued usage.
  • Depending on the type and severity of diabetes, insulin may be injected subcutaneously (just below the skin). Insulin allows the body to convert the glucose (sugar) in the blood into energy. Many different types of insulin are available, and a treatment strategy can be tailored to individual patient needs. Use of insulin therapy should be thoroughly discussed with a qualified healthcare provider and a certified diabetes educator.
  • Cholesterol-lowering drugs: Drugs that lower cholesterol and triglyceride levels may be appropriate in some people with BBS. HMG-CoA reductase inhibitors, or statins, such as atorvastatin (Lipitor®) or lovastatin (Mevacor®), effectively lower levels of low-density lipoprotein (LDL, or "bad") cholesterol and triglycerides. High-dose nicotinic acid (niacin) can also reduce cholesterol levels. Side effects of statins may include headache, nausea, vomiting, constipation, diarrhea, rash, weakness, and muscle pain. Rhabdomyolysis is a very rare but potentially life-threatening side effect of statins that is characterized by severe muscle damage. Statins are contraindicated in pregnancy and breastfeeding.
  • Antibiotics: Some people with BBS may be given antibiotics prior to surgical or dental procedures to protect against infections.
  • Dialysis: If the kidneys begin to fail, patients can undergo dialysis to cleanse the body of toxic substances. With hemodialysis, a patient's blood is circulated into an external filter and cleansed. The filtered blood is then returned to the body. With peritoneal dialysis, a fluid containing dextrose is introduced into the abdomen through a tube. This solution absorbs the wastes in the body and is then removed.
  • Transplantation: Some patients who experience kidney failure may undergo kidney transplantation. Transplantation is associated with complications, including infection and the possibility of organ rejection. To reduce the risk of rejection, patients may need to take immunosuppressant drugs. In people with BBS, immunosuppressant drugs may worsen obesity.
  • Surgery: People with BBS may have surgery to remove extra fingers and toes. Dental extraction may be necessary if crowding of the teeth is a problem. In addition, surgery may be used to correct problems with the genitourinary system.

Integrative therapies
  • Strong scientific evidence:
  • Iodine: Iodine is commonly used in topical disinfectant preparations for cleaning wounds, sterilizing skin before surgical/invasive procedures, or sterilizing catheter entry sites. Betadine solution, for example, contains povidone-iodine. Other topical disinfectants include alcohol and antibiotics and iodine is sometimes used in combination with these as a skin disinfectant. Commercially prepared iodine products are recommended in order to assure appropriate concentrations.
  • There have been reports of severe and even fatal reactions to iodine. Avoid iodine-based products if allergic to iodine. Do not use for more than 14 days. Avoid lugol solution and the saturated solution of potassium iodide (SSKI, PIMA) with high amounts of potassium in the blood, fluid in the lungs, bronchitis, or tuberculosis. Use cautiously when applying to the skin because it may irritate or burn tissues. Use sodium iodide cautiously with kidney failure. Avoid sodium iodide with gastrointestinal obstruction. Iodine is considered to be safe in recommended doses for pregnant or breastfeeding women. Avoid povidone-iodine for perianal preparation during delivery or postpartum antisepsis.
  • Probiotics: Probiotics are beneficial bacteria and are sometimes called friendly germs. They help maintain a healthy intestine by keeping harmful bacteria and yeasts in the gut under control. Most probiotics come from food sources, especially cultured milk products. Probiotics can be taken as capsules, tablets, beverages, powders, yogurts, and other foods. An increasing number of studies support the use of probiotics as a supplement to antibiotic therapy. Probiotic supplementation during a course of antibiotics has been studied for reducing adverse effects of antibiotics in the intestinal environment. This includes reducing growth of Clostridium difficile bacteria, which can lead to colitis, a common complication of antibiotics, especially in the elderly. Some probiotics may also help prevent the development of antibiotic resistance. In acutely ill children, synbiotics have been linked to greater weight gain and fewer bacterial illnesses after antibiotics are ended. The evidence consistently supports supplementation of antibiotics with probiotics.
  • Probiotics are generally considered to be safe and well-tolerated. Avoid if allergic or hypersensitive to probiotics. Use cautiously if lactose intolerant. Caution is advised when using probiotics in neonates born prematurely or with immune deficiency.
  • Good scientific evidence:
  • Probiotics: Limited evidence with day care children suggests supplementation with Lactobacillus GG may reduce number of sick days, frequency of respiratory tract infections, and frequency of related antibiotic treatments. Fermented milk (with yogurt cultures and L. casei DN-114001) may reduce the duration of gastrointestinal and respiratory infections in elderly people. More research is needed to make a firm conclusion.
  • Probiotics are generally considered to be safe and well-tolerated. Avoid if allergic or hypersensitive to probiotics. Use cautiously if lactose intolerant. Caution is advised when using probiotics in neonates born prematurely or with immune deficiency.
  • Unclear or conflicting scientific evidence:
  • Astragalus: Limited available clinical study suggests the potential for benefit of astragalus in patients with tuberculosis. Further well-designed clinical trials are required before recommendations can be made.
  • Avoid if allergic to astragalus, peas, or any related plants or with a history of Quillaja bark-induced asthma. Avoid with aspirin or aspirin products or herbs or supplements with similar effects. Avoid with inflammation (swelling) or fever, stroke, transplant or autoimmune diseases (like HIV/AIDS). Stop use two weeks before surgery/dental/diagnostic procedures with a risk of bleeding and avoid use immediately after these procedures. Use cautiously with bleeding disorders, diabetes, high blood pressure, lipid disorders, or kidney disorders. Use cautiously with blood-thinners, blood sugar drugs, or diuretics or herbs and supplements with similar effects. Avoid if pregnant or breastfeeding.
  • Berberine: Berberine is a bitter-tasting, yellow, plant alkaloid with a long history of medicinal use in Chinese and Ayurvedic medicine. Berberine has been found to possess antimicrobial properties, and there is limited evidence of anti-inflammatory properties as well. Preliminary evidence suggests that berberine eye preparations may be beneficial for trachoma. However, the safety and efficacy of berberine for this indication remains unclear.
  • Avoid if allergic or hypersensitive to berberine, to plants that contain berberine (Hydrastis canadensis (goldenseal), Coptis chinensis (coptis or goldenthread), Berberis aquifolium (Oregon grape), Berberis vulgaris (barberry), and Berberis aristata (tree turmeric), or to members of the Berberidaceae family. Avoid in newborns due to the potential for an increase in free bilirubin, jaundice, and development of kernicterus. Use cautiously with cardiovascular disease, gastrointestinal disorders, hematologic disorders, leukopenia, kidney disease, liver disease, respiratory disorders, cancer, hypertyraminemia, diabetes, or low blood pressure. Use cautiously in children due to a lack of safety information. Use cautiously in individuals with high exposure to sunlight or artificial light. Use cautiously for longer than eight weeks due to theoretical changes in bacterial gut flora. Use cautiously if taking anticoagulants, antihypertensives, sedatives, anti-inflammatories, medications metabolized by CYP P450 3A4 including cyclosporin, or any prescription medications. Avoid if pregnant or breastfeeding.
  • Beta-glucan: Beta-glucan is a soluble fiber derived from the cell walls of algae, bacteria, fungi, yeast, and plants. PGG-glucan, an immunomodulator, has been studied in patients undergoing surgery, particularly abdominal surgery. Currently, PGG-glucan appears to have positive results in decreasing postoperative infections. More study is warranted to make a firm conclusion.
  • Avoid if allergic or hypersensitive to beta-glucan. When taken by mouth, beta-glucan is generally considered to be safe. Use cautiously with AIDS or AIDS-related complex (ARC). Avoid using particulate beta-glucan. Avoid if pregnant or breastfeeding.
  • Beta sitosterol: Beta-sitosterol is found in plant-based foods, such as fruits, vegetables, soybeans, breads, peanuts, and peanut products. It is also found in bourbon and oils (such as olive oil, flaxseed, and tuna). Due to data that suggest immune modulating effects of beta-sitosterol and beta-sitosterol glucoside, these sterols have been studied for the adjunct treatment of tuberculosis with antituberculosis regimens. Clinical study is currently limited in this area, and larger populations of patients with tuberculosis should be evaluated.
  • Avoid if allergic or hypersensitive to beta-sitosterol, beta-sitosterol glucoside, or pine. Use cautiously with asthma or breathing disorders, diabetes, primary biliary cirrhosis (destruction of the small bile duct in the liver), ileostomy, neurodegenerative disorders (like Parkinson's disease or Alzheimer's disease), diverticular disease (bulging of the colon), short bowel syndrome, celiac disease, and sitosterolemia. Use cautiously with a history of gallstones. Avoid if pregnant or breastfeeding.
  • Black tea: Black tea is made from the dried leaves of Camellia sinensis, a perennial evergreen shrub. In early study, inhaled tea catechin was reported as temporarily effective in the reduction of Methicillin-resistant Staphylococcus aureus (MRSA) infection and shortening of hospitalization in elderly patients with MRSA-infected sputum. Additional research is needed to further explore these results.
  • Avoid if allergic or hypersensitive to caffeine or tannins. Skin rash and hives have been reported after caffeine ingestion. Use cautiously with diabetes. Use cautiously if pregnant. Heavy caffeine intake during pregnancy may increase the risk of SIDS (sudden infant death syndrome). Very high doses of caffeine have been linked with birth defects. Caffeine is transferred into breast milk. If breastfeeding mothers consume black tea, it may lead to anemia, decreased iron metabolism, and irritability in their infants.
  • Blessed thistle: Human research of blessed thistle as a treatment for bacterial infections is currently lacking. Laboratory studies report that blessed thistle (and chemicals contained in blessed thistle, such as cnicin and polyacetylene) may have activity against several types of bacterial infections and no effects on some types. Early studies report no activity of blessed thistle against herpes viruses, influenza, or poliovirus. Further evidence is necessary in this area before a firm conclusion can be drawn.
  • Blessed thistle is generally considered to be safe when taken by mouth in recommended doses for short periods of time, with few reported side effects such as birth defects, bleeding, breathing problems, bruising, cancer of the nose or throat, increased production of stomach acid, itching, kidney disease, liver toxicity, skin rash, stomach discomfort, stomach ulcers, and vomiting. Allergic reactions to blessed thistle including rash may occur, as well as cross-sensitivity to mugwort and Echinacea. Cross-reactivity may also occur with bitter weed, blanket flower, Chrysanthemum, coltsfoot, daisy, dandelion, dwarf sunflower, goldenrod, marigold, prairie sage, ragweed or other plants in the Asteraceae/Compositae family. Avoid if pregnant or breastfeeding.
  • Chlorophyll: Preliminary evidence suggests that chlorophyll intake during chemotherapy treatment in patients with tuberculosis may improve immune parameters and free radical indices, such as malonic dialdehyde. Additional study is needed in this area.
  • Avoid if allergic or hypersensitive to chlorophyll or any of its metabolites. Use cautiously with photosensitivity, compromised liver function, diabetes, or gastrointestinal conditions or obstructions. Use cautiously if taking immunosuppressant agents or agents used to treat diabetes. Avoid if pregnant or breastfeeding.
  • Cranberry: Limited laboratory research has examined the antibacterial activity of cranberry. Further research is warranted in this area.
  • Avoid if allergic to cranberries, blueberries, or other plants of the Vaccinium species. Sweetened cranberry juice may affect blood sugar levels. Use cautiously with a history of kidney stones. Pregnant and breastfeeding women should avoid cranberry in higher amounts than what is typically found in foods.
  • Ginseng: In patients treated with Hochu-ekki-to, which contains ginseng and several other herbs, urinary Methicillin-resistant Staphylococcus aureus (MRSA) has been reported to decrease after 10 weeks. Further study of ginseng alone is necessary in order to draw firm conclusions.
  • Avoid with a known allergy to plants in the Araliaceae family. There has been a report of a serious life-threatening skin reaction, possibly caused by contaminants in ginseng formulations.
  • Goldenseal: The goldenseal component berberine has shown effects against bacteria and inflammation. Several poorly designed human studies report benefits of berberine used in the eye to treat trachoma (Chlamydia trachomatosis eye infection). Better research is needed before a strong recommendation can be made.
  • Avoid if allergic or hypersensitive to goldenseal or any of its constituents, like berberine and hydrastine. Use cautiously with bleeding disorders, diabetes, or low blood sugar. Avoid if pregnant or breastfeeding.
  • Honey: Currently, there is insufficient available evidence for the use of honey in the treatment of Fournier's gangrene. Additional study is needed.
  • Avoid if allergic or hypersensitive to honey, pollen, celery or bees. Honey is generally considered to be safe in recommended doses. Avoid honey from the genus Rhododendron because it may cause a toxic reaction. Avoid in infants younger than 12 months of age. Use cautiously with antibiotics. Potentially harmful contaminants (like C. botulinum or grayanotoxins) can be found in some types of honey and should be used cautiously in pregnant or breastfeeding women.
  • Hydrotherapy: Hydrotherapy is broadly defined as the external application of water in any form or temperature (hot, cold, steam, liquid, ice) for healing purposes. It may include immersion in a bath or body of water (such as the ocean or a pool), use of water jets, douches, application of wet towels to the skin, or water birth. These approaches have been used for the relief of various diseases and injuries, or for general well being. There is preliminary evidence that some hydrotherapy techniques may reduce skin bacteria. There may be benefits in people with skin wounds or ulcers who are at risk of infection. Evidence that infection of the skin itself (cellulitis) is improved is currently lacking. More research is needed in this area.
  • Avoid sudden or prolonged exposure to extreme temperatures in baths, wraps, saunas, or other forms of hydrotherapy, particularly with heart disease, lung disease, or if pregnant. Avoid with implanted medical devices, such as pacemakers, defibrillators, or liver infusion pumps. Vigorous use of water jets should be avoided with fractures, known blood clots, bleeding disorders, severe osteoporosis, open wounds, or during pregnancy. Use cautiously with Raynaud's disease, chilblains, acrocyanosis, erythrocyanosis, or impaired temperature sensitivity, such as neuropathy. Use cautiously if pregnant or breastfeeding. Hydrotherapy should not delay the time to diagnosis or treatment with more proven techniques or therapies, and it should not be used as the sole approach to illnesses. Patients with known illnesses should consult their physicians before starting hydrotherapy.
  • Lavender: Early laboratory studies suggest that lavender oils may have topical antibiotic activity. However, this has not been well tested in human studies.
  • Avoid if allergic or hypersensitive to lavender. Avoid with a history of seizures, bleeding disorders, eating disorders (such as anorexia or bulimia), or anemia (low levels of iron). Avoid if pregnant or breastfeeding.
  • L-carnitine: Preliminary study suggests antibacterial activity may be increased in patients with tuberculosis given acetyl-L-carnitine. Additional research is needed to confirm these findings.
  • Avoid with known allergy or hypersensitivity to carnitine. Use cautiously with peripheral vascular disease, hypertension (high blood pressure), alcohol-induced liver cirrhosis and diabetes. Use cautiously in low birth weight infants and individuals on hemodialysis. Use cautiously if taking anticoagulants (blood thinners), beta-blockers, or calcium channel blockers. Avoid if pregnant or breastfeeding.
  • Lime: Limited available study found that lime juice used in sauces may aid in cholera prevention. Another preliminary study suggested that using limes in the main meal may also have a protective effect; both studies were investigated by the same primary author. Additional study is needed before a firm conclusion can be made.
  • Lime is considered safe when used in amounts typically found in foods. Avoid if allergic or hypersensitive to lime or any members in the Rutaceae family. Use cautiously with drugs that are broken down by the liver. Use cautiously with drugs that cause sun sensitivity. Avoid if pregnant or breastfeeding.
  • Peppermint: There is currently not enough available scientific evidence to support the use of peppermint for tuberculosis. More research is needed in this area.
  • Peppermint oil may be safe in small doses, although multiple adverse effects are possible. When used on the skin, peppermint oil has been associated with allergic/hypersensitivity reactions, skin rash/hives/contact dermatitis, mouth ulcers/sores, chemical burn, and eye irritation. Lung injury has occurred following an injection of peppermint oil. Peppermint oil taken by mouth may cause headache, dizziness, heartburn, anal burning, slow heart rate, or muscle tremor. Very large doses of peppermint oil taken by mouth have resulted in muscle weakness, brain damage, and seizure. Peppermint oil should be used cautiously by people with G6PD deficiency or gallbladder disease. Use in infants or children is not recommended due to potential toxicity.
  • Prayer/distant healing: Prayer can be defined as a "reverent petition," the act of asking for something while aiming to connect with God or another object of worship. Prayer may help reduce the length of hospital stay as well as the duration of fever in patients with infections. However, early study is controversial and additional study is needed before a conclusion can be drawn.
  • Prayer is not recommended as the sole treatment approach for potentially serious medical conditions, and it should not delay the time it takes to consult with a healthcare professional or receive established therapies. Sometimes religious beliefs come into conflict with standard medical approaches and require an open dialog between patients and caregivers.
  • Probiotics: There is limited evidence that probiotic supplementation may reduce the presence of bacterial infections in the upper respiratory tract. Results are mixed regarding the ability of probiotics to reduce infective complications of medical treatment. Reduced incidence of infection has been seen in patients treated for brain injury, abdominal surgery and liver transplantation. Other studies have shown no such reduction in elective abdominal surgery and critical care patients. More studies are needed to determine the effectiveness of probiotics for these indications.
  • Probiotics are generally considered to be safe and well-tolerated. Avoid if allergic or hypersensitive to probiotics. Use cautiously if lactose intolerant. Caution is advised when using probiotics in neonates born prematurely or with immune deficiency.
  • Propolis: Propolis is a natural resin created by bees to make their hives. Propolis is made from the buds of conifer and poplar trees and combined with beeswax and other bee secretions. Animal and laboratory studies suggest that propolis may be a beneficial treatment for various types of bacterial infections. Additional research is needed to confirm these findings.
  • Avoid if allergic or hypersensitive to propolis, black poplar (Populas nigra), poplar bud, bee stings, bee products, honey, or Balsam of Peru. Severe allergic reactions have been reported. There has been one report of kidney failure with the ingestion of propolis that improved upon discontinuing therapy and deteriorated with re-exposure. Avoid if pregnant or breastfeeding because of the high alcohol content in some products.
  • Seaweed, kelp, bladderwrack: Bladderwrack (Fucus vesiculosus) is a brown seaweed found along the northern coasts of the Atlantic and Pacific oceans and North and Baltic seas. Another seaweed that grows alongside bladderwrack is Ascophyllum nodosum, andit is often combined with bladderwrack in kelp preparations. Laboratory research suggests that bladderwrack may have antibacterial activity. However, reliable human studies to support this use are currently lacking in the available literature.
  • Avoid if allergic or hypersensitive to Fucus vesiculosus or iodine. Avoid with a history of thyroid disease, bleeding, acne, kidney disease, blood clots, nerve disorders, high blood pressure, stroke, or diabetes. Avoid if pregnant or breastfeeding.
  • Selenium: Selenium is a mineral found in soil, water, and some foods. Preliminary research reports that selenium may be beneficial in the prevention of several types of infection, including recurrence of erysipelas (bacterial skin infection associated with lymphedema) or Mycoplasma pneumonia. Further research is needed to confirm the effects of selenium for infection prevention.
  • Avoid if allergic or hypersensitive to products containing selenium. Avoid with a history of non-melanoma skin cancer. Selenium is generally regarded as safe for pregnant or breastfeeding women. However, animal research reports that large doses of selenium may lead to birth defects.
  • Sorrel: There is currently not enough evidence on the proposed antibacterial effects of sorrel. More research is needed.
  • Avoid large doses of sorrel because there have been reports of toxicity and death. This may be because of the oxalate found in sorrel. Many sorrel tinctures contain high levels of alcohol and should be avoided when driving or operating heavy machinery. These sorrel formulations may cause nausea or vomiting when taken with the prescription drugs metronidazole (Flagyl®) or disulfiram (Antabuse®). Avoid if pregnant or breastfeeding.
  • Soy: It has been suggested that soy may be beneficial for tuberculosis when taken with standard medications. According to early research, soy may improve the process of detoxification, have positive effects on the liver, reduce cell damage, and decrease inflammation. Therefore, soy supplements may allow patients to safely take higher doses of antimicrobial drugs that are used to treat tuberculosis.
  • Avoid if allergic to soy. Soy, as a part of the regular diet, is traditionally considered to be safe during pregnancy and breastfeeding, but there is limited scientific data. The effects of high doses of soy or soy isoflavones in humans are unclear, and therefore, not recommended. There has been a case report of vitamin D deficiency rickets in an infant nursed with soybean milk that was not specifically designed for infants. People who experience intestinal irritation from cow's milk may experience intestinal damage or diarrhea from soy. It is unknown if soy or soy isoflavones share the same side effects as estrogens (e.g. increased risk of blood clots). The use of soy is often discouraged in patients with hormone-sensitive cancers, such as breast or prostate cancers. Other hormone-sensitive conditions, such as endometriosis, may also be worsened. Patients taking blood-thinning drugs (e.g. warfarin or aspirin) should check with their doctors before taking soy supplements.
  • Tea tree oil: Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. Laboratory studies report that tea tree oil has activity against methicillin-resistant Staphylococcus aureus (MRSA) colonization. It has been proposed that using tea tree oil ointment in the nose and a tea tree wash on the body may treat colonization by these bacteria. However, there is currently not enough information from human studies to make recommendations for or against this use of tea tree oil.
  • Tea tree oil may be toxic when taken by mouth and therefore, should not be swallowed. Avoid if allergic to tea tree oil or plants of the Myrtle (Myrtaceae) family, Balsam of Peru, or benzoin. Use cautiously with a history of eczema. Avoid if pregnant or breastfeeding.
  • Thymus extract: Thymus extracts for nutritional supplements are usually derived from young calves. Although inconclusive, preliminary evidence suggests that thymus extract may improve effectiveness of antibacterial therapy in patients with tuberculosis. Well-designed clinical trials are required before recommendations can be made.
  • Avoid if allergic or hypersensitive to thymus extracts. Use bovine thymus extract supplements cautiously due to potential for exposure to the virus that causes "mad cow disease." Avoid use with an organ transplant or other forms of allografts or xenografts. Avoid if receiving immunosuppressive therapy or hormone therapy. Avoid with thymic tumors, myasthenia gravis (neuromuscular disorder), or untreated hypothyroidism. Avoid if pregnant or breastfeeding.
  • Zinc: A few studies have examined the efficacy of zinc treatment in leprosy. Studies of zinc taken by mouth report positive results, while one study of topical zinc reports negative results. Further research is needed before a conclusion can be drawn.
  • Zinc (zinc sulfate, zinc acetate, zinc glycine, zinc oxide, zinc chelate, and zinc gluconate) is generally considered safe when taken in the recommended dosages. Avoid zinc chloride since studies have not been done on its safety or effectiveness. While zinc appears safe during pregnancy in amounts lower than the established upper intake level, caution should be used since studies cannot rule out the possibility of harm to the fetus.
  • Fair negative scientific evidence:
  • Macrobiotic diet: A macrobiotic diet has been advocated to preserve intestinal health. However, it apparently does not reduce the incidence of antibiotic resistant bacteria, nor infections caused by resistant strains in the gastrointestinal tract, compared to a diet with animal products.
  • Use cautiously with cancer or other medical conditions without expert planning or supplementation. Avoid in children or adolescents without professional guidance or appropriate supplementation. Avoid in pregnant or lactating women due to potential deficiencies, unless properly supplemented.
  • Probiotics: Bacterial infection translocation, the passage of bacteria from the gut to other areas of the body where they can cause disease, is of special concern in surgery. Limited evidence suggests that supplementation with probiotics may not reduce this problem.
  • Probiotics are generally considered to be safe and well-tolerated. Avoid if allergic or hypersensitive to probiotics. Use cautiously if lactose intolerant. Caution is advised when using probiotics in neonates born prematurely or with immune deficiency.

Prevention
  • Avoiding close contact with individuals who have contagious illnesses may help reduce the risk of acquiring infections.
  • Practicing good hygiene and regularly washing the hands with soap and water may help reduce the risk of acquiring infections.
  • Antibiotics should only be taken when needed. This helps reduce the risk of developing antibiotic-resistant bacterial infections in the future.

Author information
  • This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography
  1. Centers for Disease Control and Prevention. .
  2. Fakutsu K. Concept and mechanism of bacterial translocation. Nippon Geka Gakkai Zasshi. 2007 May;108(3):138-42. .
  3. Fournier JM, Quilici ML. Cholera. Presse Med. 2007 Apr;36(4 Pt 2):727-39. Epub 2007 Mar 1. .
  4. Gabillot-Carre M, Roujeau JC. Acute bacterial skin infections and cellulitis. Curr Opin Infect Dis. 2007 Apr;20(2):118-23. .
  5. Halperin S, Kohl KS, Gidudu J, et al. Cellulitis at injection site: Case definition and guidelines for collection, analysis, and presentation of immunization safety data. Vaccine. 2007 May 11; [Epub ahead of print]. .
  6. Matsumoto T. Bacterial translocation. Nippon Rinsho. 2007 Feb 28;65 Suppl 2 Pt. 1:73-7.
  7. National Institutes of Health. .
  8. Natural Standard: The Authority on Integrative Medicine. .
  9. U.S. Food and Drug Administration (FDA). .

Causes
  • Genetic mutations: Bardet-Biedl syndrome (BBS) is caused by one or more mutations or defects in the following genes: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, MKKS/BBS6, BBS7, TTC8/BBS8, B1/BBS9, C12ORF58/BBS10, TRIM/BBS11, C4ORF24/FLJ35630/BBS12, FLJ20345/MKS1, and CEP290. These genes provide instructions for making various proteins, many of which are poorly understood. The type of BBS depends on which genetic mutation is present. About 20-30% of individuals who have BBS do not have mutations in any of these genes, suggesting that additional but as yet unknown genes may be involved. In some cases, a mutation in the CCDC28B gene will alter the way a typical BBS genetic mutation is expressed. The CCDC28B gene provides instructions for making the coiled-coil domain-containing protein 28B, the function of which is poorly understood but which may play a role in the normal functioning of the retina or of the eye, heart, and limbs.
  • Autosomal recessive inheritance: BBS is usually inherited as an autosomal recessive trait, meaning that a person must inherit two copies of the defective gene (one from each parent) in order to have the disease. Individuals who inherit only one copy of the defective gene generally have no symptoms and are called "carriers," because they can pass the disorder on to their children.
  • If one parent is a carrier (has only one copy of the defective gene), then each child will have a 50% chance of inheriting one defective gene and also of being a carrier. If both parents are carriers, each child has a 25% chance of inheriting two defective genes, a 50% chance of inheriting only one defective gene, and a 25% chance of inheriting neither defective gene.
  • Random occurrence: It is not known whether BBS can occur in people with no family history of the disorder.

Copyright © 2011 Natural Standard (www.naturalstandard.com)


The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.

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