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Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome Causes

Seven genes may result to HPS in humans. Researchers identified an HPS gene, located in chromosome region 10q23.1-23.3 by using a positional cloning approach.1 Genetic analysis of patients from Puerto Rico identified a 16-base pair duplication/frameshift within exon 15. This leads to a frameshift at codon Pro 496. This gene is known as the HPS-1 gene.

Hermansky-Pudlak Syndrome Definition

Hermansky-Pudlak Syndrome (HPS) is an inherited disease which leads to 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).

Hermansky-Pudlak Syndrome Diagnosis

The usual tests which physicians use to diagnose coagulation (clotting) problems typically will show normal results in HPS. These tests which may be normal include the partial thromboplastin time (PTT), prothrombin time (PT), and platelet count. A bleeding time test is typically prolonged but may be normal.

Hermansky-Pudlak Syndrome Symptoms and Signs

Ocular findings in patients with the syndrome include the following: poor visual acuity, strabismus, refractive errors associated with "with the rule astigmatism," congenital nystagmus, prominent Schwalbe line, iris transillumination, foveal hypoplasia, and albinotic retinal midperiphery. A wide ocular phenotypic variety occurs in patients with the syndrome.

Hermansky-Pudlak Syndrome Treatment

Treatment for Hermansky-Pudlak syndrome concentrates on minimizing the complications of bleeding, monitoring the lungs and kidneys for damage by ceroid, and frequent skin checks by a dermatologist to watch for skin cancer. A computed tomography (CT) scan can search for any hidden internal bleeding as well as check for organ damage. Avoiding smoking and receiving prompt treatment for any respiratory infections will help promote healthy lungs. Physical therapy, low vision aids, and frequent doctor check-ups will also promote health. Unfortunately, many people with Hermansky-Pudlak syndrome die from its complications, especially due to lung damage.

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