This is one that Nate would have liked….I recently saw a case of renal disease in an albino Peurto Rican woman with severe pulmonary fibrosis. She holds the diagnosis of Hermansky-Pudlak Syndrome (HPS).
HPS is an autosomal recessive disorder characterized by
- Oculocutaneous albinism
- A bleeding diasthesis (absense of dense bodies)
- Sometimes pulmonary fibrosis
- Sometimes granulomatous colitis.
The prevalence is 1 in 500,000 in non-Puerto Ricans and 1 in 1800 in Peurto Ricans. The HPS1 gene is most associated with HPS in Peurto Ricans and for the pulmonary fibrosis which is usually fatal in 10 years from symptom onset.