Disorders of Platelet Secretion Flashcards
most common of the hereditary platelet function defects
Storage pool and release reaction defects
Px with storage pool & release reaction defects present with:
mucocutaneous hemorrhage,
hematuria,
epistaxis,
easy and spontaneous bruising
Dense Granule Deficiencies
Hermansky-Pudlak syndrome
Chédiak-Higashi syndrome
Wiskott-Aldrich syndrome Thrombocytopenia–absent radius (TAR) syndrome
a-Granule Deficiencies
Gray platelet syndrome
dense granules are the storage site for:
serotonin
nucleotides (ADP & ATP)
calcium
pyrophosphate
Dense granule deficiencies can be subdivided into deficiency:
associated with albinism & nonalbinos
platelets of _ there is evidence for the presence of dense granule membranes in normal to near-normal numbers, which suggests that the disorder arises from an in- ability to package the dense granule contents
nonalbinos
plays a major role in platelet activation, recruitment, and aggregation and growth of the hemostatic plug
ADP
In the platelet function tests, addition of _ to platelet-rich plasma fails to induce an aggregation response from platelets with dense granule deficiency
arachidonic acid
characterized by tyrosinase- positive oculocutaneous albinism, defective lysosomal function in a variety of cell types, ceroid-like deposition in the cells of the reticuloendothelial system, and a profound platelet dense granule deficiency
Hermansky-Pudlak syndrome
Several of the mutations responsible for Hermansky-Pudlak syndrome have been mapped to _. Mutations in _ genes individually can give rise to Hermansky-Pudlak syndrome.
chromosome 19;
at least seven
most bleeding episodes in _ are not severe, lethal hemorrhage has been reported, and in one series hemorrhage accounted for 16% of deaths in affected patient
Hermansky-Pudlak syndrome
HPS
For extensive surgery or prolonged bleeding both _ & _ are required.
_ can be used to treat skin wounds that fail to spontaneously clot.
red blood cell (RBC) and platelet transfusions;
Thrombin-soaked Gelfoam
characterized by partial oculocutaneous albinism, frequent pyogenic bacterial infections, giant lysosomal granules in cells of hematologic and nonhematologic origin, platelet dense granule deficiency, and hemorrhage
Chédiak-Higashi syndrome
accompanied by severe immunologic defects and progressive neurologic dysfunction in patients who survive to adulthood
Chédiak-Higashi syndrome