Congenital Platelet Function Defects and Receiving Social Security DisabilityCongenital platelet function defects is a genetic (inherited) bleeding disorder. It is a bleeding disorder that involves problems with your platelets. Platelets are tiny cells that circulate in your blood. Their main job is to have a part in the process of the clotting of your blood. There are many granules inside of each one of your platelets that contain compounds that help your platelets to stick to each other. These granules also enable your platelets to stick to the surface of a blood vessel wall that is damaged. Normally, there are somewhere between 150 and 400 million platelets per milliliter that are present in your circulating blood. A platelets average life span is about 10 days. Platelets are necessary for blood clots to form and stop bleeding from a ruptured blood vessel (hemorrhage). A sufficient number of working platelets is also necessary to prevent the leakage of red blood cells from blood vessels that appear to be undamaged. Congenital platelet function defects is one of the giant platelet syndromes. Giant platelet syndromes are the second most common inherited bleeding disorders that are characterized by defects in the way that your blood platelets work. Congenital platelet function defects is evidenced by large platelets, a prolonged bleeding time and a low platelet count. The main difficulty with these platelets is that they are unable to stick adequately to your blood-vessel walls that are injured or damaged. This is one of the essential elements in the formation of a blood clot. Because of this, abnormal bleeding takes place. Congenital platelet function defects was first described by two doctors, Jean Pierre Soulier and Jean Bernard. In 1948, they identified this disorder in a young man who had a bleeding problem. Congenital platelet function defects is known by other names. It is also called platelet storage pool disorder, Glanzmanns thrombasthenia, Bernard-Soulier syndrome and platelet function defects congenital. Fortunately, congenital platelet function defects is an extremely rare disorder. Somewhere around one in 1 million people are affected by this disorder in the United States. Congenital platelet function defects results from a substance that is missing in your platelets that sticks to the walls of blood vessels. Because of this, even though your platelet count is normal, the function of your platelets is abnormal. This missing substance is something that you inherit. Congenital platelet function defects is something that you are born with. That is what congenital means. Congenital platelet function defects is inherited in what is referred to as an autosomal recessive pattern. What this means is that in order for you to inherit this disorder, you have to inherit the abnormal (defective) gene from each one of your parents.
Signs and symptoms you might have Congenital Platelet Function DefectsThere are several signs and symptoms that may be an indication of congenital platelet function defects. Some of these include:
- ? Subcutaneous bleeding
- ? Bruising easily
- ? An excessive amount of bleeding that follows a trauma, surgery, injury or anything else that brings on bleeding
- ? Heavy menstrual flow in a woman
- ? Nosebleeds (epistaxis) that occur often
- ? Slow-healing bruises
- ? Gum (gingival) bleeding.