A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome

摘要

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease characterized with oculocutaneous albinism and platelet aggregation disorder. The clinical picture is highly variable and patients may present with different complaints., Ecchymoses usually develop in childhood; epistaxis, postoperative hemorrhage and gingival bleeding may be observed. Here we present 3 patients who were diagnosed with HPS in our clinic. In conclusion, HPS should be considered in all patients with ocular findings and albinism even though bleeding disorder is not described. Bleeding findings may be mild or unrecognized. Absence of secondary wave in platalet aggregation tests supports the diagnosis.