Bernard Soulier Disease
Bernard Soulier disease is a rare inherited bleeding disorder. It is also known as Hemorrhagiparous thrombocytic dystrophy. This disease was first discovered in 1948 by two French Hematologists Jean Bernard and Jean Pierre Soulier. The proof of this disorder being genetically transferred was further clarified by studying the history of the patient who had familial record of bleeding disorders such as thrombocytopenia.
Platelets play a significant role in the effective homeostatic mechanism through clot formation in the body. The membranes of platelets are coated with specific glycoprotein receptors also referred as GP, which regulate the mechanism of adhesion, aggregation and activation of the platelets. Bernard Soulier syndrome or BSS occurs because of the malfunction in the platelet glycoprotein complex 1b-IX-V. The gene responsible for this respective protein is defective in origin. Since Bernard-Soulier syndrome is inherited, it affects males and females. If both parents have the defective gene, there is a high chance of the children acquiring this disorder.
Bernard Soulier syndrome is extremely rare. Studies imply that currently only one hundred cases of Bernard Soulier syndrome have been recorded. Since Bernard Soulier syndrome is associated with the malfunction of platelets, the clinical symptoms are mostly hemorrhagic in origin. The predominant symptoms of the Bernard Soulier syndrome include purpura which is marked by under skin bruises, epistaxis, menorrhagia ( heavy menstrual bleeding) and also bleeding from the mouth. In severe conditions, urinary tract and gastrointestinal tract bleeding has also been reported.
The clinical manifestations of the Bernard Soulier syndrome are associated with the age factor. In many cases developing children have been affected by this syndrome. Nose bleeds and mouth bleeding are common among toddlers, and may occur during teething. Heavy bleeding or menorrhagia has been reported among young women during puberty. The conditions pertaining to purpura is often not associated with any pain or discomfort. Patients with Bernard Soulier syndrome have also been reported to have mild thrombocytopenia and also extremely large lymphocytoid platelets.
Diagnosis of Bernard Soulier Disease
Bernard Soulier syndrome through blood tests: The diagnosis includes an evaluation of the blood picture in association with parameters such as bleeding time and the examination of the bone marrow to identify the megakaryocytes. Platelet function tests such as PF 100 may be useful in the determination of underlying Bernard Soulier syndrome in a qualitative manner. The differential diagnosis of the Bernard soulier syndrome is done by correlating with other disorders such as Sebastian syndrome and Epstein syndrome.
Treatment of Bernard Soulier Disease
The early identification of the Bernard Soulier disorder enables better treatment options. In the event of uncontrollable bleeding, blood transfusions are recommended. Although blood transfusions are essential in the treatment of BSS, repeated transfusions can trigger alloimmunization. In the event of nose bleeds, patients are advised to elevate their head position during sleeping and also drugs such as anti-fibrinolytics are administered to prevent the clot dissolving process. In case of treatment options such as platelet replacement therapy or transfusion, precautions must be taken to avoid transmission of viruses such as hepatitis A, B, HIV and influenza.
Bibliography / Reference
Collection of Pages - Last revised Date: February 16, 2019