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A Puerto Rican patient with oculocutaneous albinism has prolonged bleeding after dental extraction. Pulmonary function tests show early restrictive lung disease.
AR; multiple genes (HPS1-HPS10)
- HPS1 and HPS3 common in Puerto Rico (founder effect)
- Oculocutaneous albinism (variable)
- Bleeding diathesis (platelet storage pool deficiency: absent dense granules)
- Pulmonary fibrosis (HPS1, HPS4 types: leading cause of death)
- Granulomatous colitis (some types)
- Whole-mount transmission electron microscopy of platelets showing absent dense bodies (the defining finding)
- Platelet aggregation studies with a normal platelet count but impaired secondary aggregation
- Molecular testing of the HPS genes (HPS1-HPS10) confirms the type and predicts pulmonary fibrosis risk
- Bleeding precautions: avoid aspirin and other antiplatelet agents; desmopressin or platelet transfusion for procedures and bleeding
- Ophthalmologic care and photoprotection for the oculocutaneous albinism, with skin cancer surveillance
- Pulmonary monitoring in fibrosis-prone types (HPS1, HPS4); refer for transplant evaluation as disease progresses
- Gastroenterology evaluation and treatment for granulomatous colitis when present
HPS = HypoPigmented Skin. Think "Hermansky-Pudlak = Platelet" defect.
Put your "Potluck" (Pudlak) on a plate, a reminder of the platelet aggregation defect (absent dense granules).
For the Puerto Rico founder effect, think "Mi Hermano de Puerto Rico" (Hermansky-Pudlak).