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What is Bernard-Soulier syndrome?
The Bernard-Soulier Syndrome (B-SS) is a rare inherited bleeding disorder caused by abnormal platelets and subsequent abnormal clotting. It is one of the giant platelet syndromes. This syndrome was originally described in 1948 by two physicians who were treating a patient with a bleeding problem. They discovered that this patient had a prolonged bleeding time, fewer platelets, and larger platelets than the normal individual. Since then, the platelet abnormality has been described and determined to be due to the platelets lacking the ability to stick adequately to injured blood-vessel walls. This is a crucial aspect of the process of forming a blood clot, and as a result of this problem, there is excessive bleeding.
What are the symptoms and signs of Bernard-Soulier syndrome?
Bernard-Soulier syndrome usually presents in the newborn period, infancy, or early childhood with bruises, nosebleeds (epistaxis), and/or gum (gingival) bleeding. Later problems can occur with anything that can induce bleeding such as menstruation, trauma, surgery, or stomach ulcers.
What is the cause of Bernard-Soulier syndrome?
Bernard-Soulier syndrome is a rare inherited disease and is transmitted in an autosomal recessive pattern. This means that both parents must carry a gene for the Bernard-Soulier syndrome and transmit that gene to the child for the child to have the disease. The prevalence is believed to be less than one in 1 million individuals. The molecular basis is now known and is due to a defect in the platelet glycoprotein complex 1b-IX-V. This is referred to as an adhesion complex and forms a receptor that enables platelets to stick together to form a clot. Normal platelets circulate in the blood and are the primary cells responsible for initiating clotting. Without this receptor, platelets cannot stick together and clotting does not occur normally. The parents of a child with B-SS will have a decrease in the glycoprotein but no impairment of platelet function and no abnormal bleeding. The Bernard-Soulier gene has been mapped to the short (p) arm of chromosome 17 (in the region 17pter-17p12).
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How is Bernard-Soulier syndrome diagnosed?
Patients are often diagnosed with B-SS after seeking medical attention following prolonged or recurring bleeding episodes. Some infants are diagnosed after excessive bleeding following circumcision. Other children and adults may be diagnosed after bleeding excessively following trauma or tooth extraction. Very frequently there is a history of another family member with similar symptoms, and the physician evaluating the patient will often document a detailed family history to assist in the diagnosis. B-SS ultimately is a laboratory diagnosis and usually requires a specialized laboratory to confirm the suspicion of the disease and involves platelet aggregation studies (testing for the "stickiness" of platelets) and flow cytometry. It is important to distinguish this syndrome from other platelet disorders (such as von Willebrand disease and immune thrombocytopenia purpura), since the treatments and management differ.
What is the treatment for Bernard-Soulier syndrome?
There is no specific treatment for Bernard-Soulier syndrome. Patients should avoid any drugs which may interfere with clot formation, such as aspirin, ibuprofen, and naproxen. Severe bleeding episodes may require platelet and blood transfusions. Recombinant clotting factors and a coagulation drug known as DDAVP may also be of short-term benefit in selected patients. Affected individuals should avoid participation in contact sports. Iron supplements are often recommended to patients with the disease to help minimize the anemia often observed in patients with frequent blood loss.
Is there a cure for Bernard-Soulier syndrome?
Currently there is no cure for B-SS; however researchers are studying the efficacy of bone-marrow transplantation and have had some success in treating the syndrome in several severely affected patients.
"Congenital and acquired disorders of platelet function"
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acetylsalicylic acidAspirin (Aspirin, Arthritis Foundation Safety Coated Aspirin, Bayer Aspirin, Bayer Children's Aspirin, Ecotrin, and many others) is a NSAID used to treat fever, pain, and inflammation in the body that results from forms of arthritis, and soft tissue injuries. Aspirin is also used for decreasing the risk of heart attacks and strokes. Side effects, drug interactions, pregnancy information, and pregnancy safety information should be reviewed prior to taking any medication.
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased. There are several types of anemia such as iron deficiency anemia (the most common type), sickle cell anemia, vitamin B12 anemia, pernicious anemia, and aplastic anemia. Symptoms of anemia may include
- hair loss,
- menstruation, and
Treatment for anemia includes treating the underlying cause for the condition. Iron supplements, vitamin B12 injections, and certain medications may also be necessary.
Blood Disorders QuizExactly what is sickle cell anemia? Learn about sickle cell and other diseases by testing your IQ with the Blood and Bleeding Disorders Quiz.
BruisesA bruise, or contusion, is caused when blood vessels are damaged or broken as the result of a blow to the skin. The raised area of a bump or bruise results from blood leaking from these injured blood vessels into the tissues as well as from the body's response to the injury. Treatments include applying an ice pack and pressure to the area by hand.
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Circumcision The Surgical ProcedureCircumcision is a surgical procedure that removes the foreskin of the penis. Circumcision is generally a safe surgical procedure.
Complete Blood Count
A complete blood count (CBC) is a calculation of the cellular makeup of blood. A CBC measures the concentration of white blood cells, red blood cells, platelets in the blood, and aids in diagnosing conditions and disease such as malignancy, anemia, or blood clotting problems.
Ibuprofen is a nonsteroidal anti-inflammatory drug (NSAID) used to reduce mild to moderate pain, inflammation, and fever. Ibuprofen works by blocking an enzyme that makes prostaglandin (a hormone-like substance that participates in a variety of body functions), which results in lower levels of prostaglandins in the body. Lower levels of prostaglandins reduce pain, inflammation, and fever.
Ibuprofen is prescribed to treat diseases and conditions that cause mild to moderate pain, fever, and inflammation. For example, Pain from strains and sprains; pain from cuts, scrapes, and puncture wounds; muscle aches and pains; tooth pain; common cold; mild headache; some arthritis conditions; joint pain; and to reduce fever.
Common side effects of ibuprofen include, diarrhea, constipation, nausea, heartburn, belly pain, drowsiness, headaches, tinnitus (ringing in the ears), and mild rash.
More serious side effects and adverse effects include, increased bleeding after injury, stomach ulcers, impaired kidney function, severe allergic reaction (anaphylaxis), blood clots, heart attack, heart failure, and high blood pressure.
The maximum dose prescribed under a doctor's care is 3.2 g daily. Otherwise, the over-the-counter (OTC) maximum daily dose is 1.2 g daily. Dosage depends upon the age, weight, and any current medical conditions of the patient. Several drugs interact with ibuprofen so check with your doctor, pharmacist, or other health care professional with questions in regard to this drug. Doctors don't know if it is safe to take ibuprofen if your are pregnant, therefore it is not recommended if you are pregnant. According to the American Academy of Pediatrics, ibuprofen is safe to take while breastfeeding.
REFERENCE: FDA Prescribing Information.
naproxenNaproxen (Aleve, Anaprox, Naprelan, Naprosyn) is in the class of drugs called nonsteroidal anti-inflammatory drugs (NSAIDs). Naproxen is prescribed for the treatment of mild to moderate pain, inflammation, and fever. Side effects, drug interactions, and pregnancy information should be reviewed prior to taking this medication.
NosebleedNosebleeds are common in dry climates during winter months, and in hot dry climates with low humidity. People taking blood clotting medications, aspirin, or anti-inflammatory medications may be more prone to nosebleeds. Other factors that contribute to nosebleed are trauma (including nose picking, especially in children), rhinitis (both allergic and nonallergic), and high blood pressure. First-aid treatments for a nosebleed generally do not need medical care. Frequent or chronic nosebleeds may require medical treatment such as over-the-counter (OTC) medication, and prevention of nose picking.
Peptic or stomach ulcers are ulcers are an ulcer in the lining of the stomach, duodenum, or esophagus. Ulcer formation is related to H. pylori bacteria in the stomach, use of anti-inflammatory medications, and cigarette smoking. Symptoms of peptic or stomach ulcers include abdominal burning or hunger pain, indigestion, and abdominal discomfort after meals.
Treatment for stomach ulcers depends upon the cause.
Normal vaginal bleeding (menorrhea) occurs through the process of menstruation. Abnormal vaginal bleeding in women who are ovulating regularly most commonly involves excessive, frequent, irregular, or decreased bleeding. Causes of abnormal may arise from a variety of conditions that may include:
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The treatment for abnormal or irregular vaginal bleeding depends upon the cause.