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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
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