$Unique_ID{BRK03541}
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$Title{Broad Beta Disease}
$Subject{Broad Beta Disease Familial Broad Beta Disease Hyperlipoproteinemia
Type III Familial Dysbetalipoproteinemia Xanthoma Tuberosum}
$Volume{}
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Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders,
Inc.

163:
Broad Beta Disease

** IMPORTANT **
It is possible that the main title of the article (Broad Beta Disease) is
not the name you expected.  Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     Familial Broad Beta Disease
     Hyperlipoproteinemia, Type III
     Familial Dysbetalipoproteinemia
     Xanthoma Tuberosum

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Broad Beta Disease is a hereditary disorder of lipid transport
characterized by the presence of areas of lipid deposition (xanthomas) under
certain parts of the skin with a predisposition to obesity, atherosclerosis
and occlusion of blood vessels.  With control of dietary lipids, affected
persons can expect a normal life.

Symptoms

Symptoms of Broad Beta Disease appear in adults in the form of xanthomas, or
yellowish elevated "pads" containing various lipids.  These appear on the
palms of the hands, fingers, knees, elbows, arms, legs, buttocks, within the
tendons in the ankle (Achilles tendon), and occasionally the fingers.  A
crescent shaped deposit of fat and cholesterol crystal known as arcus lipidus
corneae may also develop in the corneas of the eyes.

The primary complications of Broad Beta Disease are cardiovascular.  An
imbalance of the protein-lipid molecules which transport cholesterol and
other fats in the blood results in high blood levels of cholesterol and
triglycerides.  Cholesterol in particular can accumulate along the walls of
the blood vessels (atherosclerosis) serving the body in general and those
supplying the heart muscle.   Occlusion of blood vessels and ischemic heart
disease (a condition in which the heart does not receive adequate oxygen due
to reduced blood supply) can result.

Some patients become significantly overweight as a result of the disorder
further increasing the risk of heart disease.

Causes

Broad Beta Disease is inherited probably through an autosomal dominant
mechanism.  (Human traits including the classic genetic diseases, are the
product of the interaction of two genes for that condition, one received from
the father and one from the mother.  In dominant disorders, a single copy of
the disease gene (received from either the mother or father) will be
expressed "dominating" the normal gene and resulting in appearance of the
disease.  The risk of transmitting the disorder from affected parent to
offspring is 50% for each pregnancy regardless of the sex of the resulting
child.)

Very rarely, Broad Beta Disease is associated with diabetes due to lack
of insulin or with hypothyroid disease.

Related Disorders

Several other forms of hyperlipoproteinemias, or diseases of lipid transport
due to excessive lipoprotein levels in the blood, exist.

Therapies:  Standard

In Broad Beta Disease the limitation of the intake of cholesterol and other
fats generally prevents xanthomas and high lipid levels in the blood.
Xanthomas can in some cases be removed surgically.  Treatment of
cardiovascular disease is symptomatic.

Therapies:  Investigational

This disease entry is based upon medical information available through
January 1990.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Broad Beta Disease, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     National Lipid Diseases Foundation
     1201 Corbin St.
     Elizabeth, NJ  07201
     (201) 527-8000

     American Heart Association
     7320 Greenville Ave.
     Dallas, TX 75231
     (214) 750-5300

     NIH/National Heart, Lung, and Blood Institute (NHLBI)
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-4236

For information on genetics and genetic counseling referrals, please
contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     (914) 428-7100

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     (301) 652-5553

References

THE MERCK MANUAL 15th ed:  R. Berkow, et al:  eds; Merck, Sharp & Dohme
Research Laboratories, 1987.  P. 1008.