Problem

Hermansky Pudlak Syndrome

Nature:

Hermansky-Pudlak Syndrome (HPS) is a type of albinism which includes a bleeding tendency, colitis, lung disease, and kidney disease. The severity of these problems varies much from person to person. It is not easily diagnosed with usual types of blood tests. One of the most troubling aspects of HPS is that its onset, severity and course is unpredictable. The severity of bleeding problems varies much in HPS, from minor bruising to life-threatening haemorrhage. Some children have had bleeding problems from minor surgery such as placement of ear tubes. The colitis usually does not develop until adolescence, though in several cases it has appeared in infants. The lung disease may not develop until adulthood.

Incidence:

Although HPS has been identified most frequently among Puerto Ricans, the syndrome occurs all over the world. It was first recognized in two Czechoslovakian individuals in 1959. It should be suspected in any child with albinism who shows easy bruising or unusual bleeding, such as repeated nosebleeds or bloody diarrhea.

Broader Problems:
Albinism
Values:
Syndrome
Problem Type:
G: Very specific problems
Subject(s):
Medicine Pathology
Date of last update
19.11.2013 – 17:25 CET