[Diagnosis of Hermansky-Pudlak syndrome]

A 27-year-old woman presented with increased bleeding tendency and known oculocutaneous albinism. In addition to frequent nasal and gingival bleedings she had since childhood spontaneous extensive cutaneous bleedings. In addition she was extreme sensitive to UV light with visual disturbances. Bone-marrow biopsy when aged 9 years had revealed abnormal pigment-storing cells. Physical examination showed a very fair skin and hair, spontaneous nystagmus and extensive rash in the face.

Prothrombin, partial thromboplastin and thrombin times as well as fibrinogen level were normal. On re- admission bleeding time varied greatly, while platelet count was normal. Mean platelet volume was slightly reduced. Von Willebrand antigen, factor VIII:C, factor IX:C, factor XIII and alpha (2)-antiplasmin were all normal. Aggregometry indicated abnormal platelet function; there was reduced platelet aggregation after stimulation with adenosine diphosphate. Flow cytometry of whole blood demonstrated abnormal storage function of thrombocytic delta-granules. The underlying cause of the described symptoms was shown to be a gene defect in typical location on the long arm of chromosome 10.

The triad of tyrosinase-positive oculocutaneous albinism, abnormal thrombocytic delta-granules and ceroid deposition in the cells of the reticuloendothelial system or the bone-marrow is called Hermansky-Pudlak syndrome (after those who first reported it). There is as yet no causal treatment. But the patient was advised to use a nasal spray of desmopressin for spontaneous or difficult to stop bleedings after minor injuries. Desmopressin i. v. should be given prophylactically before any operation.