Hermansky Pudlak syndrome (HPS) have first described by Czechoslovakian Internal medicine doctors Frantisek Hermansky and his colleague Pavel Pudlak in year 1959. This disease is a rare autosomal recessive disease that affects about 1 of 2500 persons. The main cause to this disease is accumulation of ceroid lipofuscin.
This disease is an autosomal recessive disorder. Because of it, it is more common in consanguineous marriage. If a family members have this disease, other members may have this disease by %25 rate also.
The genetic defect is on HPS1 gene on different chromosomes 10. In these gene, there is a duplication in exon 15. This genetic defect results to defect of the protein that called biogenesis of lysosome-related organelles complex (BLOC).
The life-threatening symptom is pulmonary fibrosis. A long term symptomatic treatment is necessary for pulmonary problems. At the end, lung transplantation is the only current treatment for complete pulmonary fibrosis.
Treatment is symptomatic and supportive. Before dental and surgical procedures desmopressin may helpful for bleeding problems. Recombinant activated factor VII is also beneficial.
Avoid aspirin, NSAID and other bleeding enhancer drugs, like warfarin and heparin.
Avoid of long term sunlight is important to reduce the risk of solar damage that can cause to skin malignancies. If necessary to walk in sunshine, times sunscreen and sunglasses must used also.
The life expectancy depends on the severity and progression of lung involvement and pulmonary fibrosis. The mean life expectancy is 48 years. With a good pulmonary rehabilitation program, some of these patients may live up to 75 years of age also.