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Sebastian Syndrome

Sebastian syndrome is an extremely rare genetic bleeding disorder. It is part of a larger category of blood disorders known collectively as inherited giant platelet disorder. Sebastian syndrome is mild and non-life-threatening.

  1. Inherited Giant Platelet Disorder

    • Inherited giant platelet disorder (IGPD) is a category of syndromes that are related to each other and are characterized by improper platelet function and increased platelet size. In addition to Sebastian syndrome, the conditions that fall under this category include May-Hegglin anomaly, Epstein syndrome, Fechter syndrome and Bernard-Soulier syndrome. Sebastian syndrome is distinguished from these other syndromes by the lack of other symptoms; people who have Sebastian syndrome only have bleeding anomalies and nothing else.

    Symptoms of Sebastian Syndrome

    • The symptoms of Sebastian syndrome tend to be quite mild. Some people who have the syndrome may not even have symptoms at all. People who have the syndrome tend to be susceptible to nosebleeds, may bleed from the gums and may bleed for a longer-than-normal time after being cut. They also tend to bruise easily. Women with the syndrome may experience a menstrual flow that is heavier than that of most other women. None of these instances of bleeding are life-threatening. The main risk associated with Sebastian syndrome is the liklihood of hemmorhage during or following surgery. Someone with Sebastian syndrome who undergoes major surgery may require a platelet transfusion afterward.

    The Role of Genetics

    • Sebastian syndrome is an inherited dominant autosomal condition. This means that it is passed from parent to child. Only one parent needs to be affected in order for the child to inherit it. Fewer than 10 affected families have been reported worldwide, so the syndrome is considered very rare. There does not seem to be any ethnic or geographical pattern to the syndrome, and women and men seem to be equally affected.

    Diagnosis

    • To make a diagnosis of Sebastian syndrome, doctors will perform several tests. A complete blood count will be done, as well coagulation studies and platelet aggregation tests. Microscopic examination of the platelets also helps in reaching a diagnosis; the size and shape of platelets affected by Sebastian syndrome is distinctive. A genetic test may also be done to determine the presence of the gene that causes the syndrome.

    Treatment and Prognosis

    • Generally, no treatment is necessary for people with Sebastian syndrome. The bleeding anomalies tend to be so mild that they simply do not require special attention. As mentioned, the only significant risk posed by the excessive bleeding caused by Sebastian syndrome is that an affected person may bleed too much during major surgery. A platelet transfusion is usually enough to rectify that situation. People with Sebastian syndrome may expect to live as healthy a life as anyone else and have a normal lifespan.

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