ABSTRACT
A previously healthy 32-year-old man presented with recurrent exercise induced painless gross hematuria and hematospermia. An extensive evaluation demonstrated classic von Willebrand's disease associated with vascular telangiectasia of the prostate gland as the locus of hemorrhage. The bleeding resolved spontaneously and without recurrence. The coexistence of von Willebrand's disease and vascular telangiectasia has been described previously, although it is a rare occurrence. However, a review of the English literature revealed no report of vascular telangiectasia involving the prostate gland, and therefore is the subject of this report. The prostate gland now should be added to the list of viscera associated with vascular telangiectasia and von Willebrand's disease.
Subject(s)
Blood , Hematuria/etiology , Prostatic Diseases/complications , Semen , Telangiectasis/complications , von Willebrand Diseases/complications , Adult , Exercise , Hemostatics , Humans , Male , Prostatic Diseases/blood , Prostatic Diseases/urine , Recurrence , Telangiectasis/blood , Telangiectasis/urine , von Willebrand Diseases/blood , von Willebrand Diseases/urineABSTRACT
The Hermansky-Pudlak syndrome, a triad of albinism, platelets lacking dense bodies, and storage of ceroid-like material in tissues, occurs approximately once in 2,000 northwestern Puerto Ricans. The manifestations of storage disease are variable and include granulomatous colitis, restrictive lung disease, kidney failure, and cardiomyopathy. The autofluorescent material stored in the Hermansky-Pudlak syndrome is histochemically similar to that stored in neuronal ceroid/lipofuscinosis. The material in neuronal ceroid/lipofuscinosis contains dolichols, which are components of lysosomes, and patients show increased urinary excretion of dolichols. This study of 49 patients with the Hermansky-Pudlak syndrome found that urinary dolichol levels are increased in those patients with evidence of ceroid storage in the kidneys but are not elevated when storage occurs in tissues other than the kidneys. The excretion of ceroid was not influenced by the saturation state of dietary fat. A defect in processing of membranes of lysosomes, melanosomes, and dense bodies may be involved in the syndrome.