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Home Page > Diseases by Region: Ashkenazi > Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome
by Yael Rosenberg, RN

Description
Hermansky-Pudlak Syndrome is an autosomal recessive genetic disorder that is the result of mutation of the gene HPS1 and HPS3. A specific mutation of the HPS3 gene has been found in Jews of Ashkenazi descent. This condition is characterized by oculocutaneous albinism which as the name implies is a greatly diminished or absent pigmentation of the eyes, hair and skin. The onset and severity of this condition varies. There are eight different types of Hermansky-Pudlak syndrome that have distinctive signs and symptoms and specific genetic cause. Types one and four are the most severe and only types one, two and four have the devastating pulmonary fibrosis associated with it. Types three, five and six have the mildest symptoms, while there is a scarcity of information on the symptoms of types seven and eight

Symptoms
   • Fair skin
   • Light colored hair
   • Exposure to sunlight increases the risk of skin damage and skin cancer
   • Nystagmus – rapid eye movement
   • Photophobia – sensitivity to light
   • Diminished visual sharpness
   • Easy bruising and bleeding episodes due to platelets abnormality

Incidence and Carriers
Carrier Frequency: 1 in 235 Ashkenazi Jews (c.1303+1G>A (also known as 1163+1G>A) splice site mutation)

Disease Frequency: 1 in 500,000 to 1 in 1,000,000 Worldwide
      Type 1: 1 in 1800 in Puerto Ricans especially those living in the northwestern part
      Type 3: More prevalent in Puerto Ricans living in the central part
      Unknown for Ashkenazi Jews – but those that have the disorder have the milder form.

Treatment
There is currently no cure for HPS so treatment is supportive and preventative.
   • Early visual evaluation
   • Corrective lenses for visual problems
   • Management and evaluation by a hematologist
   • Avoid contact sports – due to bleeding issues.
   • Avoid Aspirin and NSAID drugs that thin the blood
   • Avoid sun exposure
   • Skin care and evaluation should be on a consistent basis

Testing
- All children that have albinism should be tested for HPS
- Diagnosis is based on clinical findings
- Genetic testing for HPS gene mutation (HPS3 specific mutation for Ashkenazi Jews)

Laboratories and Screening
The following laboratories offer genetic testing for Hermansky-Pudlak Syndrome 3:
   •  United States
   •  Europe

UNITED STATES
Denver Genetic Laboratories
UCD DNA Diagnostic Laboratory
12800 East 19th Avenue
Mail Stop 8313
Aurora, CO 80045
Phone: (303) 724-3801 (Main laboratory)
Fax: (303) 724-3802 (HIPAA-secure)

GeneDx
207 Perry Parkway
Gaithersburg, MD 20877
Phone: (301) 519-2100
Fax: (301) 519-2892

Casey Eye Institute
OHSU Oregon Health & Science University
3375 SW Terwilliger Blvd Rm. 3110
Portland, OR 97239
Phone: (503) 418-2535
Fax: (503) 494-6261
Email: ceidiagnostics@ohsu.edu

PreventionGenetics
Molecular Diagnostics and BioBanking
3700 Downwind Drive
Marshfield, Wisconsin 54449 USA
Phone: (715) 387-0484
Fax: (715) 384-3661
Web: http://www.preventiongenetics.com

EUROPE
   •  Germany

GERMANY
Diagenos
Osnabrueck, Niedersachsen, Germany
Phone: (+49) 541-800199 ext 03
Fax: (+49) 541-800199 ext 05
Email: info@diagenos.com
 

Resources and More
Hermansky-Pudlak Syndrome Network, Inc.
One South Road
Oyster Bay NY 11771-1905
Phone: (800) 789-9477; (516) 922-3440
Fax: (516) 922-4022
Email: hpsnet@worldnet.att.net 
Web: http://www.hpsnetwork.org 

National Organization for Albinism and Hypopigmentation (NOAH)
PO Box 959
East Hampstead NH 03826-0959
Toll Free: (603) 887-2310
Phone: (800) 473-2310
Fax: (800) 648-2310 (toll-free)
Email: info@albinism.org

Support Groups
Donna Appell
The HPS Network
1 South Road
Oyster Bay, NY 11771-1905
Toll Free: (800) 789-9477
Email: dappell@albinism.org 

Hermansky-Pudlak Syndrome Yahoo Group
Web: http://health.groups.yahoo.com/group/Hermanskypudlak
 
HPS Families Yahoo Group
Web: http://health.groups.yahoo.com/group/HPSfamilies
 

SUGGESTED READING

Jewish Genetic Disorders: A Layman's Guide: Guide to genetic disorders affecting  the Jewish population more than the non-Jewish. Includes basic facts on genetics & genetic disorders.
     ------------
Books: Jewish Genetic Diseases

 

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