Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive[1] disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems.[2]
The course of HPS has been mild in rare instances of the disorder,[3] however, the general prognosis is still considered to be poor.
The disease can cause dysfunctions of the lungs, intestine, kidneys or heart. The major complication of most forms of the disorder is pulmonary fibrosis, which typically exhibits in patients ages 40 – 50 years old.[4] This is a fatal complication seen in many forms of HPS, and is the usual cause of death from the disorder.[5]
The disorder is more common in Puerto Rico,[6] where many of the clinical research studies on the disease have been conducted.
HPS can be caused by mutations in several genes: HPS1, HPS3, HPS4, HPS5, HPS6 and HPS7.
HPS type 2, which includes immunodeficiency in its phenotype, is caused by mutation in the AP3B1 gene.
HPS type 7 may result from a mutation in the gene coding for dysbindin protein.[7]
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