Albinism and lung fibrosis in a young man – the first case of adult Hermansky-Pudlak Syndrome reported in Malaysia
- Author:
Liza Ahmad Fisal
;
Aziah Ahmad Mahayiddin
- Publication Type:Case Reports
- Keywords:
Albinism , lung fibrosis, Hermansky-Pudlak Syndrome
- From:
The Medical Journal of Malaysia
2012;67(6):620-621
- CountryMalaysia
- Language:English
-
Abstract:
A young gentleman of Indian descent with oculacutaneous
albinism (OCA) was found to have severe pulmonary
fibrosis at first presentation. Following investigations, he was diagnosed with Hermansky-Pudlak Syndrome (HPS). It
is a genetic condition characterised by albinism, bleeding
diathesis and multisystem disorder observed in individuals
of particular descents. Although there is no curative
treatment apart from lung transplantation, preventive
measures to minimise pulmonary insult may change the
natural history of the disease. Therefore HPS should be
actively sought, monitored and risk factors addressed in
individuals with OCA and bleeding diathesis particularly
those of Indian descent as they may develop serious
complications such as pulmonary fibrosis in the future.
