Syndrome, Bernard-Soulier (giant platelet syndrome)
This is a primary problem of platelets in which the platelets lack the ability to stick adequately to injured blood vessel walls. As a result of this problem there is abnormal bleeding. Bernard-Soulier syndrome usually presents in the newborn period, infancy, or early childhood with bruises, nose bleeds (epistaxis), and/or gum (gingival) bleeding. Later problems can occur with anything which can induce bleeding such as menstruation, trauma, surgery, or stomach ulcers. Bernard-Soulier syndrome is an inherited disease and is transmitted in an autosomal recessive pattern. 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 molecular basis is known and is due to a deficiency in platelet glycoproteins Ib, V, and IX. The parents 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. There is no specific treatment for Bernard-Soulier syndrome. Bleeding episodes may require platelet transfusions. The abnormal platelets in the Bernard-Soulier syndrome are usually considerably larger than normal platelets when viewed on blood films or sized by automated instruments. However, this is not the only syndrome with large platelets. Specific platelet function tests as well as tests for the glycoproteins can confirm the diagnosis. This disease was first recognized in 1948 by two French hematologists: Jean Bernard (1907-) and Jean-Pierre Soulier (1915-). (Because the disease is named not for one man whose name was Bernard Soulier but for these two men, there should be a hyphen in the Bernard-Soulier syndrome).

Medical dictionary. 2011.

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  • Giant platelet syndrome (Bernard-Soulier syndrome) — This condition is a primary problem of platelets in which the platelets lack the ability to stick adequately to injured blood vessel walls and as a result of this problem there is abnormal bleeding. The giant platelet syndrome usually presents in …   Medical dictionary

  • Disease, Bernard-Soulier (giant platelet syndrome) — This disease is a primary problem of platelets in which 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, and as a result of this problem there is… …   Medical dictionary

  • Bernard-Soulier syndrome (giant platelet syndrome) — The Bernard Soulier syndrome is a primary problem of platelets in which 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, and as a result of this… …   Medical dictionary

  • giant platelet syndrome — giant platelet syndrome. = Bernard Soulier syndrome (см.). (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • giant platelet syndrome — Bernard Soulier s …   Medical dictionary

  • Bernard-Soulier syndrome — Infobox Disease Name = Bernard Soulier syndrome Caption = DiseasesDB = 1356 ICD10 = ICD10|D|69|1|d|65 ICD9 = ICD9|287.1 ICDO = OMIM = 231200 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 230 MeshID = D001606 Bernard Soulier syndrome (BSS),… …   Wikipedia

  • Syndrome, giant platelet (Bernard-Soulier syndrome) — This condition is a primary problem of platelets in which the platelets lack the ability to stick adequately to injured blood vessel walls and as a result of this problem there is abnormal bleeding. The giant platelet syndrome usually presents in …   Medical dictionary

  • giant platelet — an abnormal large platelet whose membrane lacks glycoprotein Ib so that the platelet cannot bind von Willebrand factor or adhere to the surface of a blood vessel; seen in the Bernard Soulier syndrome …   Medical dictionary

  • Bernard-Soulier syndrome — (BSS) an autosomal recessive disorder characterized by giant platelets with membranes lacking glycoprotein Ib, the probable receptor for plasma von Willebrand factor; this keeps the platelets from binding the factor, which is necessary for their… …   Medical dictionary

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

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