Hermansky-Pudlak Syndrome Details

Expanded Description

Hermansky-Pudlak Syndrome is a rare disorder resulting in decreased pigmentation, platelet abnormality, legal blindness and storage of an abnormal fat-protein compound.

Prevalence

No prevalence information has been added yet.

Causes

Genetic

Disorder Symptoms

There are several symptoms that affect patients with Hermansky-Pudlak Syndrome.

Name	Description
Bruises	Bruises
Bleeding	Bleeding
Bowel issues	Bowel issues
Difficulty breathing	Difficulty breathing

Diagnosis

No diagnosis information has been added yet.

Diagnostic Tests

Blood sample has to be submitted for testing under a electronic microscope that can detect whether the platelets have delta bodies or not.

We don't have any tests yet.

Disorder Treatments

There is a trial study for a drug underway, but at present, there is no cure for HPS. Of course treatment can be given for the peripheral effects of HPS. Aspirin or any medications that thin the blood must be avoided.

We don't have any treatments yet.

Prognosis

Persons with HPS generally have a life expectancy of 30-40 years, as around this time pulmonary fibrosis develops and at present there is no cure for pulmonary fibrosis.

Tips for Living with the Disorder

We don't have any tips yet.