Platelet Storage Pool Disorder(Deficiency) is a rare bleeding disorder that cause Pistaxis(bleeding from the nose), Menorrhagia (heavy mentstrual cycles), extensive bruising, and surgical and obstetric bleeds. It's so RARE that it's really hard to get any concrete answers about a life plan after diagnosis. Anytime I meet with Dr's. . .I've read the same article, heard the same statistic, or seen the same puzzled look on one's face. It truly is an undiscovered disorder growing in diagnosis, yet nobody is willing to take on such an immense research project to find out more answers.
Platelet Storage Pool Deficiency is described as a RARE platelet abnormality that causes a bleeding disorder! Platelet Function is a continuos process that starts when the vessel wall is injured. It is said that PSPD is a secretion disorder that takes place in the Extension Phase of platelet function. PSPD is usually characterized by a reduction in the number/content of certain types of platelets. The inheritance of an isolated platelet storage pool deficiency is thought to be autosomal dominant, but the penetrance of the gene varies from person to person. My daughter and I have been diagnosed with PSPD and my son hasn't, It appears that both my children have a 50% chance of passing PSPD on to their child. Platelet storage pool deficiencies consist of a number of disorders characterized by a reduction in the number and content of certain types of platelets, called dense granules and alpha granules. The dense granules in platelets serve as a "storage pool" for adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. It is thought that the reduced release of ADP may result in the prolonged bleeding times. A genetic specialist made it sound like I had a reduction is both the dense granules and the alpha granules.
At this point Dr's are treating us like patients that have Von Willebrands. . . So any meds we are prescribed or plans of attack we take are not necessarily anything we are guaranteed will work . . . because it's not actually for our diagnosis. My daughter and I don't take medicine daily, the only treatment plan we have is symptomatic treatment. We are often treated like we have a more dangerous deficiency for the lack of knowledge on our disorder and the lack of treatment plans.
Platelet storage pool deficiencies can also be part of other inherited conditions including Hermansky-Pudlak syndrome, Chediak-Higashi syndrome which are autosomal recessive conditions, Wiskott-Aldrich syndrome, an X-linked recessive condition, and thrombocytopenia-absent radius (TAR) syndrome. The inheritance pattern of TAR syndrome is unclear.
I would love to spread awareness and help raise money towards research of this rare disorder! If you would like to help support the first ever foundation for Platelet Storage Pool Disorder please donate to Give Forward-PSPD A Touch of Scarlett
If you would like to join our PSPD Facebook page go to https://www.facebook.com/Atouchofscarlett
to join the group Platelet Storage Pool Disorder-A touch of Scarlett (a group of with people affected by PSPD) go to. . .https://www.facebook.com/groups/atouchofscarlett/
to join the group Platelet Storage Pool Disorder-Families and Friends go to . . .https://www.facebook.com/groups/1542124709362698/?ref=bookmarks
for Platelet Storage Pool Disorder-A touch of Scarlett go to. .
Written by,
Written by,
Kari Peepe
Kari Peepe
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