Bernard-Soulier syndrome is a rare inherited bleeding disorder caused by abnormal platelets. The platelets lack the ability to stick adequately to injured blood-vessel walls. This is a crucial aspect of the process of forming a blood clot.
Bernard-Soulier syndrome is a rare inherited bleeding disorder caused by abnormal platelets. The platelets lack the ability to stick adequately to injured blood-vessel walls. This is a crucial aspect of the process of forming a blood clot.
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Bernard-Soulier syndrome is a rare inherited bleeding disorder caused by abnormal platelets. The platelets lack the ability to stick adequately to injured blood-vessel walls. This is a crucial aspect of the process of forming a blood clot.
Copyright:
Attribution Non-Commercial (BY-NC)
Available Formats
Download as DOC, PDF, TXT or read online from Scribd
was originally described in 1948 What is the cause of Bernard- mapped to the short (p) arm of
Introduction to Bernard-Soulier by two physicians who were Soulier syndrome? chromosome 17
Syndrome treating a patient with a bleeding problem. They discovered that this Bernard-Soulier syndrome is a rare How is Bernard-Soulier IN 1948, BERNARD AND patient had a prolonged bleeding inherited disease and is transmitted syndrome diagnosed? SOULIER described a young male time, fewer platelets, and larger in an autosomal recessive pattern. patient with a severe bleeding platelets than the normal This means that both parents must Patients are often diagnosed with disorder that was characterized by individual. Since then, the platelet carry a gene for the Bernard- B-SS after seeking medical a prolonged bleeding time, abnormality has been described Soulier syndrome and transmit that attention following prolonged or thrombocytopenia, and extremely and determined to be due to the gene to the child for the child to reoccurring bleeding episodes. large platelets. They termed the platelets lacking the ability to stick have the disease. The prevalence is Some infants are diagnosed after disorder “la dystrophie adequately to injured blood-vessel believed to be less than one in 1 excessive bleeding following thrombocytaire-hémorragipare walls. This is a crucial aspect of million individuals. The molecular circumcision. Other children and congénitale.” Since then, an the process of forming a blood clot, basis is now known and is due to a adults may be diagnosed after identical or similar disorder has and as a result of this problem, defect in the platelet glycoprotein bleeding excessively following been described in a large number there is abnormal bleeding. complex 1b-IX-V. This is referred trauma or tooth extraction. Very of individuals, virtually always to as an adhesion complex and frequently there is a history of transmitted in an autosomal What are the symptoms and forms a receptor that enables another family member with recessive manner and often signs of Bernard-Soulier platelets to stick together to form a similar symptoms, and the occurring in persons whose parents syndrome? clot. Normal platelets circulate in physician evaluating the patient are close relatives. the blood and are the primary cells will often document a detailed Bernard-Soulier syndrome usually responsible for initiating clotting. family history to assist in the What is Bernard-Soulier presents in the newborn period, Without this receptor, platelets diagnosis. B-SS ultimately is a syndrome? infancy, or early childhood with cannot stick together and clotting laboratory diagnosis and usually bruises, nosebleeds (epistaxis), does not occur normally. The requires a specialized laboratory to The Bernard-Soulier Syndrome (B- and/or gum (gingival) bleeding. parents of a child with B-SS will confirm the suspicion of the SS) is a rare inherited bleeding Later problems can occur with have a decrease in the glycoprotein disease and involves platelet disorder caused by abnormal anything that can induce bleeding but no impairment of platelet aggregation studies (testing for the platelets and subsequent abnormal such as menstruation, trauma, function and no abnormal bleeding. "stickiness" of platelets) and flow clotting. It is one of the giant surgery, or stomach ulcers. The Bernard-Soulier gene has been cytometry. It is important to platelet syndromes. This syndrome distinguish this syndrome from