The Blood Disorder Bernard

The platelet disorder, Bernard-Soulier syndrome is very rare and is caused by abnormal genes for glycoprotein Ib/IX/V. this is the genetic code for a group of linked proteins that can normally be...

The platelet disorder, Bernard-Soulier syndrome is very rare and is caused by abnormal genes for glycoprotein Ib/IX/V. this is the genetic code for a group of linked proteins that can normally be found on the surface of platelets (part of blood). Because of a missing or factor that is not working properly, the platelets in the person with Bernard-Soulier syndrome, do not stick to the injured area of the blood vessel as they are suppose to do in order to form a blood clot.

Both biological parents must carry the abnormal gene in order to pass that abnormal gene to their child.

This blood disorder is found more often in areas of the world where it is common to have marriage between close relatives. Caucasians of European ancestry and Japanese are primarily where the disorder occurs.

Males and females can develop Bernard-Soulier syndrome.

The signs and symptoms of Bernard-Soulier syndrome are usually first noticed in childhood.

The signs and symptoms of Bernard-Soulier syndrome include getting easily bruised, frequent nosebleeds, blooding from the gums, females have heavy or long menstrual bleeding or they bleed heavily during childbirth and dental procedures. Individuals may also experience bleeding after surgery or during procedures like when baby boys are circumcised.

How is Bernard-Soulier syndrome diagnosed?

It is imperative that there be a complete medical history when making a diagnosis that involves a platelet function disorder. The doctor will want to run a series of laboratory tests that are specific to blood disorders and may even have them done at a hemophilia treatment center or where specialists in blood disorders are located.

Laboratory tests that may be conducted are:

* Bleeding time
* Closure time
* Microscopic examination of platelets
* Platelet clumping tests with ristocetin
* Flow cytometry

Treatment is usually only required during procedures where bleeding may occur such as dental work, surgical procedures and childbirth.

Treatment may include antifibrinolytic drugs, recombinant factor VIIa, desmopressin, fibrin sealants, hormonal contraceptives to control menstrual bleeding, iron replacement therapy, and platelet transfusions in severe cases of bleeding.

Individuals who have Bernard-Soulier Syndrome should avoid taking medications that are antiplatelet, such as aspirin.

Desmopressin acetate (DDAVP) has been used to shorten bleeding time and is successful with some patients for minor bleeding situations.

Children who have this disorder may benefit by having consultations with a pediatric hematologist.

Prognosis for those with Bernard-Soulier Syndrome is for lifelong tendency to bleed with the tendency diminishing with age.

The best tool for quality of life is for patients and their families to be educated about the disease and instructed about how to avoid trauma. There should be an emphasis placed on good dental hygiene to prevent mouth infections.

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One Response to “The Blood Disorder Bernard”

1. atef omar says:

   May 17, 2011 at 2:00 am

   i have acase of bernard solair disease and i search for assisstance from interested specialists