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Synergistic effect of storage pool deficient platelets and low plasma von willebrand factor on the severity of the hemorrhagic diathesis in hermansky‐pudlak syndrome
Author(s) -
Witkop Carl J.,
Bowie E. J. Walter,
Krumwiede Marlys D.,
Swanson Jane L.,
Plumhoff Elizabeth A.,
White James G.
Publication year - 1993
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830440407
Subject(s) - hermansky–pudlak syndrome , hemorrhagic diathesis , von willebrand factor , platelet , bleeding diathesis , medicine , immunology , pulmonary fibrosis , fibrosis
A study of 565 Puerto Rican patients with storage pool deficient (SPD) Hermansky‐Pudlak syndrome (HPS) demonstrated that most HPS patients had minor bleeding episodes while others had repeated, severe hemorrhagic episodes requiring transfusion. The severity of bleeding in these latter patients could not be attributed to their SPD alone. As swine with SPD platelets and low von Willebrand factor antigen (vWF:Ag) have more severe hemorrhages than pigs with either defect alone, 146 albino patients and 46 normally pigmented patients were examined for their level of vWF:Ag. The risk of SPD HPS patients having severe, repeated bleeding episodes increased when vWF:Ag fell below 70 U/dL. Family studies indicated that low vWF:Ag levels were more frequently associated with O blood group than from a gene suppressing production or release of vWF1. HPS patients should be tested for vWF:Ag levels. © 1993 Wiley‐Liss, Inc.