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Familial
Hypercholesterolemia
by Yael Rosenberg, RN
Description
Familial Hypercholesterolemia is an autosomal dominant genetic
disease which is caused by mutation of the LDLR gene on chromosome
19. In extremely rare cases an offspring may inherit a mutated gene
from both parents leading to a more severe form of FH. The defect
causes the body to be incapable of eliminating LDL (low density
lipoproteins) or otherwise known as “bad cholesterol” from the
blood. This leads to buildup of LDL levels in the blood which
increases the risk of development of atherosclerosis (narrowing of
arteries) at a young age.
Symptoms
• Xanthomas or fatty skin deposits are found over
the elbows, knees, buttocks, tendons, and around the cornea of the
eye
• Xanthelasmas which are cholesterol deposits in the eyelids
• Signs of coronary heart disease such as chest pain (angina) or
other signs may be present at a young age
Incidence and Carriers
The condition affects 1 in 500 in most countries in the world
including the United States.
There is a higher prevalence of familial hypercholesterolemia in
those of Ashkenazi Jewish ancestry, with one specific mutation
found. Finnish, Lebanese, Afrikaner and French Canadian populations
have also been found to have a higher incidence.
Treatment
Treatment is focused on decreasing the risk of atherosclerotic heart
disease. For patients who have the heterozygous type of this
condition, meaning they inherited just one copy of the mutated gene,
altering the diet and including statin drugs is often effective.
Doctors will institute diet changes before commencing medications.
This will include reduction in daily fat intake, by eating lean
meats and poultry while limiting intake of fatty dairy products as
well as other saturated fats and oils.
Embarking on regular exercise program is also recommended to help
lower cholesterol levels.
If diet changes and exercise program do not significantly reduce the
cholesterol level, the physician will likely recommend drug therapy.
The most common medications utilized for lowering the LDL
cholesterol levels are statins.
For those patients with the more severe form of this condition a
procedure called extracorporeal apheresis may be used. Blood or
plasma is removed from the body and then filtered to remove the LDL
cholesterol.
Testing
Familial hypercholesterolemia is diagnosed based on laboratory
results and physical exam. Lab results will show high blood levels
of LDL and total cholesterol, and an abnormal cardiac stress test.
Physical Exam may show the characteristic lipoprotein skin lesions
and fatty deposit in the eyes.
Genetic testing looks for mutations of the LDLR gene.
Laboratories and Screening
The following laboratories offer genetic testing for Canavan
Disease:
• United States
• Israel
• Europe
UNITED STATES
Ambry Genetics
100 Columbia #200
Aliso Viejo, CA 92656
Toll Free: (866) 262-7943
Phone: (949) 900-5500
Fax: (949) 900-5501
Athena Diagnostics Inc
Reference Lab
Worcester, MA
Phone: (800) 394-4493
Phone: (508) 756-2886 (Callers outside the US and Canada)
Fax: (508) 753-5601
Web:
http://www.athenadiagnostics.com
**Offering Sequence analysis of the entire coding region only
Baylor Medical Genetic Laboratories
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: (800) 411-GENE (4363)
Fax: (713) 798-2787
Email: genetictest@bcm.edu
Client Services Manager
Alejandra Quick
Phone: (713) 798-7656
Fax: (713) 798-2787
Email: ahquick@bcm.edu
Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542
**Offering Sequence analysis of the entire coding region and
deletion/duplication analysis but not prenatal testing.
ISRAEL
GGA –Galil Genetic Analysis Ltd
P.O.B. 3664
Kazerin, Hatzafon, Israel 12900
Phone: (+972) 4-900-7100
Fax: (+972) 4-900-7111
Email: gga@gga.org.il
Hadassah Hospital Hadassah Ein Karem
Human Molecular Genetic Laboratory
Dr. Israela (Issy) Lerer (Director)
POB 12000
Jerusalem 91120
Israel
Phone: (+972) 2- 677-6016
Fax : (+972) 2- 677-7499
Web: http://www.hadassah.org.il
Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv, Israel 69710
Phone: (+972) 73-312-6155
Fax: (+972) 73-212-6144
Email:
info@prontodiagnostics.com
EUROPE
• Germany
GERMANY
Bio.logis Center for Human Genetics
Frankfurt, Germany
Genetic Counselor: Prof Daniela Steinberger, MD, PhD
Phone: (+49) 6953-084-37
Fax: (+49) 6953 084-37-11
Email:
Daniela.steinberger@bio.logis.de
Center for Nephrology and Metabolic Disorders
Laboratory for molecular genetics
Werner-Seelenbinder-Str. 73
D-02943 Weißwasser
Phone: (+49) 3576-2155-22
Fax: (+49) 3576-2155-24
Contact: Mato Nagel, MD
Phone: (+49) 3576-2878-22
Fax: (+49) 3576-3879-44
Email: nagel@moldiag.de
Centogene GmbH
Schillingalee 68
18057 Rostock
Germany
Phone: (+49) 381-203652-0
Fax: (+49) 381-203652-19
Email:
office@centogene.com
Diagenos
Osnabrueck, Niedersachsen, Germany
Phone: (+49) 541-800199 ext 03
Fax: (+49) 541-800199 ext 05
Email: info@diagenos.com
Dr. Eberhard and Partner
MVZ Dortmund
Dortmund, Nordrhein-Westfalen, Germany
Phone: (+49) 231-95720
Fax: (+49) 231-579834
Email: genetik@labmed.de
Resources and More
MEDPED (Make Early Diagnosis to Prevent Early Death)
University of Utah
410 Chipeta Way, Room 161
Salt Lake City, UT 84108
Toll free: (888) 244-2465
Web: http://www.medped.org
Support Groups
FH Family Support Group
Contact: Kristina Sengotta
Address: Suite 7 Oasis Lotteries House, 37 Hampden Rd
Nedlands, westernaustralia, 6009
Phone: (08) 3485 2999
Phone: Gail (0413) 999 875
Web:
http://www.fhfamilysupportgroup.websyte.com.au
WomenHeart
818 18th Street, NW
Suite 1000
Washington, DC 20006
Phone: (202) 728-7199
Fax: (888) 343-0764
Email: mail@womenheart.org
Web: http://www.womenheart.org
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