Rare Platelet Disorders

Most bleeding disorders are rare, but some are rarer than others. When a bleeding disorder is very rare, that means that only a very few people have it. Bernard-Soulier Syndrome (BSS), Glanzmann’s Thrombasthenia (GT), and Platelet Storage Pool Deficiency (PSPD) are rare platelet disorders. If you have a platelet disorder, that means you either have too many platelets, too few platelets, or the ones you do have do not work well.   

This section on rare platelet disorders covers the following: 

Bernard-Soulier Syndrome (BSS)

Glanzmann’s Thrombasthenia (GT)

Platelet Storage Pool Deficiency (PSPD)

When your body is injured, platelets rush to the wound. They become sticky and bunch together to help make a plug. Without working platelets, you can’t make a strong platelet plug. A platelet plug is one part of building a blood clot to stop bleeding.

To learn more platelet plugs and how a blood clot forms, go to What Happens When a Person Bleeds. Below you can learn more about signs and symptoms and how someone gets each disorder. 

Bernard-Soulier Syndrome (BSS)

What is it? Bernard-Soulier Syndrome (BSS) is an ultra-rare bleeding disorder. If you have this disorder, it means you have very large platelets. Your platelets are also missing an important protein called lycoprotein lb. This protein allows platelets to stick together to make a stable blood clot. If you don’t have the protein, you can’t make a stable blood clot and your bleeding lasts longer. BSS is ultra-rare. It affects about 1 in a million people. 

What are the signs? If you have BSS, your symptoms can be mild to serious. You may have frequent nosebleeds that last a long time, easy bruising, and bleeding from the gums. Women, girls, and those with the potential to menstruate with BSS may have heavy period bleeding.1 

How do you get it? Special tests are needed to see if you have BSS. When you get tests done, one thing they may test is how many platelets you have. If you have BSS, then you may have lower than normal numbers of platelets. Some people may have only slightly lower-than-normal numbers of platelets. Other tests might find larger sized platelets and less platelets sticking together.1 If you have BSS or think you might have BSS, it is important to talk with a hematologist. A hematologist is a health care provider for disorders of the blood. Hematologists often work at a Hemophilia Treatment Center (HTC).  

Glanzmann’s Thrombasthenia (GT)

What is it? Glanzmann’s Thrombasthenia (GT) is an ultra-rare bleeding disorder. If you have GT, your platelets are missing the protein glycoprotein IIb/IIIa. This protein helps your platelets to stick together to make a stable blood clot. GT affects about 1 in a million people. 

What are the signs? You may have bruising, especially small bruises that look like tiny spots (petechiae). Petechiae happen because of bleeding into the skin. You may also have nosebleeds and heavy period bleeding. If you have GT, you may bleed a lot longer than normal.  

How do you get it? If you have (GT), your platelet count is normal. Under a microscope, your platelets have a normal size and shape. To diagnose GT, you will need special blood tests. These tests check for a lack of glycoprotein IIb/IIIa in the platelets. The tests also look for a longer bleeding time.2 If you have GT or think you might have GT, it is important to talk with a hematologist. A hematologist is a health care provider for disorders of the blood. Hematologists often work at a Hemophilia Treatment Center (HTC).  

If you want more information about Glanzmann’s Thrombasthenia, please go to the Glanzmann’s Thrombasthenia Booklet.  
 

Platelet Storage Pool Deficiency (PSPD)

What is it? Platelet Storage Pool Deficiency (PSPD) is a name for many different rare disorders. Platelet granules are part of making a platelet plug. During this process the platelets give off chemicals, which causes them to change their shape. The released chemicals are pushed out (called secretion) into the bloodstream. When this happens, other clotting factors and platelets become active. If you have PSPD your platelet granules are either missing or may not work well. 

What are the signs? If you have PSPD, symptoms may begin at any age. You may have no symptoms at all, or you might have severe bleeds. You may have bruising, nosebleeds, bleeding from the gums, and heavy period bleeding. You may also bleed much longer than normal. 

How do you get it? To find out if you have PSPD, you may need lab and genetic tests. Getting a diagnosis may be complex. You may need tests measuring how many platelets you have. You may also need tests measuring how well your platelets work and if the granules in your platelets are normal. If you have PSPD or think you might have PSPD it is important to talk with a hematologist. A hematologist is a health care provider for disorders of the blood. Hematologists often work at a Hemophilia Treatment Center (HTC).  

Platelet Storage Pool Deficiency

What Women and Girls Should Know About Getting Tested for Bleeding Symptoms