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$Unique_ID{BRK03941}
$Pretitle{}
$Title{Lipodystrophy}
$Subject{Lipodystrophy Barraquer-Simons Disease Koebberling-Dunnigan Syndrome
Simons Syndrome Smith Disease Hollaender-Simons Disease Lawrence-Seip Syndrome
Whipple Disease Leprechaunism Congenital Lipodystrophy Acquired Lipodystrophy
Acquired Partial Lipodystrophy Insulin Lipodystrophy Cephalothoracic
Lipodystrophy Unilateral Partial Lipodystrophy Familial Lipodystrophy
Lipoatrophic Diabetes Mellitus Mesenteric Lipodystrophy Membranous
Lipodystrophy Nasu Lipodystrophy Centrifugal Lipodystrophy Progressive
Lipodystrophy Berardinelli-Seip Syndrome Seip Syndrome Total Lipodystrophy
Partial Lipodystrophy Localized Lipodystrophy Diencephalic Syndrome Cushing
Syndrome Multiple Symmetric Lipomatosis Congenital Adrenal Hyperplasia }
$Volume{}
$Log{}

Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders,
Inc.

460:
Lipodystrophy

** IMPORTANT **
It is possible the main title of the article (Lipodystrophy) is not the
name you expected.  Please check the SYNONYMS listing on the next page to
find alternate names, disorder subdivisions, and related disorders covered by
this article.

Synonyms

     Barraquer-Simons Disease
     Koebberling-Dunnigan Syndrome
     Simons Syndrome
     Smith Disease
     Hollaender-Simons Disease
     Lawrence-Seip Syndrome
     Whipple Disease
     Leprechaunism
     Congenital Lipodystrophy
     Acquired Lipodystrophy
     Acquired Partial Lipodystrophy
     Insulin Lipodystrophy
     Cephalothoracic Lipodystrophy
     Unilateral Partial Lipodystrophy
     Familial Lipodystrophy
     Lipoatrophic Diabetes Mellitus
     Mesenteric Lipodystrophy
     Membranous Lipodystrophy
     Nasu Lipodystrophy
     Centrifugal Lipodystrophy
     Progressive Lipodystrophy
     Berardinelli-Seip Syndrome
     Seip Syndrome

DISORDER SUBDIVISIONS

     Total Lipodystrophy
     Partial Lipodystrophy
     Localized Lipodystrophy

Information on the following diseases can be found in the Related
Disorders section of this report:

     Diencephalic Syndrome
     Cushing Syndrome
     Multiple Symmetric Lipomatosis
     Congenital Adrenal Hyperplasia

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.


Lipodystrophies are a group of rare metabolic disorders which can be
either inherited or acquired.  They are characterized by abnormalities in
fatty (adipose) tissue associated with total or partial loss of body fat,
abnormalities of carbohydrate and lipid metabolism, severe resistance to
naturally occurring and synthetic insulin, and immune system dysfunction.
These disorders are differentiated by degrees of severity, and by areas or
systems of the body affected.  Lipodystrophies can also be associated with
other disorders and various developmental abnormalities.

Symptoms

Lipodystrophies may affect a small area of the body, a large part of the
body, or the entire body.

Extreme decreases of fat tissue over the entire body (Total
Lipodystrophy) may be inherited or acquired.   The inherited form is present
at birth (congenital) and is characterized by marked absence of fat tissue in
the face, trunk and limbs with prominent muscles.  The acquired form usually
begins during childhood or adulthood with loss of fatty tissue also
noticeable in the face, trunk, and limbs.  Congenital generalized
Lipodystrophy is another inherited form of Lipodystrophy present at birth
which is characterized by generalized absence of fat tissue under the skin,
but without prominent muscles.  Abnormal carbohydrate and lipid metabolism
occur in both the inherited and the acquired forms.

Leprechaunism is a rare inherited form of Total Lipodystrophy that
includes characteristic facial features, growth retardation before birth,
enlargement of sex organs, marked deficiency of fatty tissue under the skin,
and other skin abnormalities.  Metabolic problems can occur, and many
affected infants exhibit extreme failure to thrive.  (For more information on
Leprechaunism, please choose "Leprechaun" as your search term in the Rare
Disease Database.)

Other symptoms of Total Lipodystrophies may include prominent-appearing
muscles due to the lack of fat tissue under the skin, jaw muscles that appear
to stand out, sunken cheeks, and a wrinkled forehead.  The bones and muscles
may be clearly outlined, and the abdomen is often distended.  Skeletal growth
and maturation appear to be accelerated in some cases.  Mild to moderate high
blood pressure may occur, and the liver tends to become enlarged
(hepatomegaly).  In some cases, metabolic abnormalities may not develop until
Diabetes Mellitus first appears, usually after the onset of puberty.
Excessive fatty acids in the blood (hyperlipidemia), and over-production of
body heat (hypermetabolism) may then occur.

The following conditions may be associated with forms of Total
Lipodystrophy:  Acanthosis Nigricans (a skin disorder characterized by gray
or black darkening and thickening of the skin which occurs frequently in
Lipodystrophy patients around the onset of puberty), Acromegaly (gigantism),
excessive hair growth (hirsutism or hypertrichosis), eruptive yellowish spots
on the skin, and thickened skin.  Generalized hyperpigmentation, liver
disease, central nervous system disorders, an enlarged heart, and enlargement
of external genitalia may also develop.  Mental retardation has been
associated with a few cases of Lipodystrophy.  (For more information on any
of the above mentioned disorders or conditions, choose the appropriate name
as your search term in the Rare Disease Database).

Partial Lipodystrophy may be either inherited or acquired and is usually
marked by the absence of fat tissue under the skin.  Facial involvement, and
wasting (atrophy) of the extremities or the trunk may or may not occur.  The
acquired form of partial Lipodystrophy is the most common form of
Lipodystrophy, and is also known as "cephalothoracic progressive
lipodystrophy".  This condition is often progressive and may occur on only
one side of the body.  It has been associated with kidney disease, Diabetes
Mellitus, hyperpigmentation, excessive hairiness (hirsutism), an enlarged
liver, and the presence of excessive amounts of fatty acids in the blood
(hyperlipemia).  A cold sensation in involved areas, vague abdominal
complaints or vomiting, frequent diarrhea, headaches, nervousness and fatigue
are the major symptoms of Partial Lipodystrophy.  A rapid heartbeat, lack of
nerve conduction in fingers or toes resulting in tingling and/or coldness
(Raynaud's phenomenon), and excessive sweating may also occur.

Various conditions are associated with Partial Lipodystrophy including
central nervous system dysfunction, Hyperthyroidism, Diabetes Mellitus,
menstrual disorders, ovarian abnormalities, and underdevelopment of sex
organs (hypogonadism).  Liver enlargement and kidney dysfunction (which is
more serious) have been observed in some patients.  Loss of protein through
the urine occurs more frequently in Partial Lipodystrophy than in other forms
of Lipodystrophy.  (For more information on Diabetes Mellitus, or any other
disorders or conditions mentioned above, choose the appropriate name as your
search term in the Rare Disease Database).

When Partial Lipodystrophy occurs in conjunction with Diabetes Mellitus
(Lipoatrophic Diabetes), it can be either inherited or acquired, and
generalized or partial.  The acquired form may begin during childhood or
adulthood and may involve part of the body or the entire body.  It often
develops following an acute illness, but may arise without warning.  Both the
congenital and acquired forms are associated with abnormalities in
carbohydrate metabolism, which can be manifested by low blood sugar
(hypoglycemia), excessive loss of glucose through the urine (glucosuria),
increased plasma insulin levels, and insulin resistance.  The inherited form
is characterized by fat atrophy of the limbs and trunk without involvement of
the face and neck.  The disorder usually begins at puberty but may not appear
until middle age.

Other conditions which may be associated with Lipoatrophic Diabetes
include insulin resistance, high blood sugar (hyperglycemia), severely
elevated levels of triglycerides in the blood (hypertriglyceridemia) and
eruptive yellow nodules or plaques on the skin (xanthomas).  In affected
females, the vaginal labia are enlarged, and the ovaries tend to develop
cysts.  Acanthosis Nigricans (a skin disorder characterized by gray or black
darkening and thickening of the skin which occurs frequently in Lipodystrophy
patients around the onset of puberty), is usually present.  Kidney and liver
disease usually do not occur.

Acquired Lipoatrophic Diabetes usually begins during adolescence or early
adulthood.  It resembles congenital Total Lipodystrophy due to the occurrence
of Acanthosis Nigricans, excessive amounts of lipid in the blood
(hyperlipidemia), and liver-spleen enlargement (hepatosplenomegaly) which may
be due to cirrhosis of the liver.  Insulin-resistant Diabetes Mellitus is
almost always present, but neurologic, heart, and kidney abnormalities are
usually absent.

Partial Lipodystrophy associated with developmental abnormalities is
inherited, non-progressive and involves the face and buttocks.  It begins
during infancy or early childhood, and is associated with vision problems
(Rieger's Anomaly), short stature, underdevelopment of the midface, lack of
normal hair growth on the scalp (hypotrichosis), and insulin-deficient
Diabetes.  Tooth abnormalities also occur.

Localized Lipodystrophies have easily identifiable, multiple lesions
often associated with inflammation of part of the abdominal wall (lymphocytic
panniculitis).

Mesenteric Lipodystrophy is a form of localized Lipodystrophy involving
fat deposits in lymph nodes near the small intestines.  It is also known as
"mesenteric panniculitis", "lipogranuloma of the mesentery" or Whipple's
Disease.  (For more information on this disorder, choose "Whipple" as your
search term in the Rare Disease Database.)

Membranous Lipodystrophy is an inherited, localized lipodystrophy
characterized by multiple cystic bone lesions on both sides of the body.
Progressive neuropsychiatric symptoms including dementia, seizures, lack of
muscle coordination (ataxia), tremors, and loss of consciousness may also
occur.  Additionally, the lens of the eyes may be involved.

Centrifugal Lipodystrophy is a rare localized condition characterized by
a small skin depression enlarging in a circular pattern.  The depression is
due to a marked wasting of fatty tissue just under the skin.  Localized
Lipodystrophies are usually characterized as small, well-defined points of
wasting (atrophy) with or without other associated diseases.

Causes

Total Lipodystrophy is inherited as a recessive trait.  The exact cause of
Partial Lipodystrophy is not known, although researchers believe it may be
either inherited, infectious, an immune system abnormality, or originating
within nerve tissue (neurogenic dysfunction).  It may also be associated with
other disorders as a symptom.  Lipoatrophic Diabetes may be either inherited
as an autosomal recessive trait, or acquired.  Localized Lipodystrophies are
thought to be caused by inflammation of affected tissue.  Mesenteric
Lipodystrophy (Whipple's Disease) is thought to be caused by fat deposits in
lymph nodes near the small intestine.  (For more information on Whipple
Disease, choose "Whipple" as your search term in the Rare Disease Database.)
Membranous Lipodystrophy is inherited by an unknown mode of transmission.
Centrifugal Lipodystrophy is caused by wasting in the fat tissue just under
the skin for unknown reasons.

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 recessive disorders, the condition does not
appear unless a person inherits the same defective gene from each parent.  If
one receives one normal gene and one gene for the disease, the person will be
a carrier for the disease, but usually will show no symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent and will be genetically normal.

Affected Population

All of the Lipodystrophies are rare disorders affecting more females than
males.

Related Disorders

Symptoms of the following disorders can be similar to those of Lipodystrophy.
Comparisons may be useful for a differential diagnosis:

Diencephalic Syndrome begins during infancy and is characterized by
profound emaciation after initial normal growth, hyperactivity, and euphoria.
Skin pallor, low blood pressure, and low blood sugar levels are present.
This disorder is usually caused by a brain tumor.

Cushing Syndrome consists of a group of symptoms attributable to an
excess of cortisol and certain other hormones from the cortex of the adrenal
gland.  It is usually caused by hormone secreting tumors of either the
adrenal gland or the pituitary gland, or a hyperfunctioning pituitary gland.
Sometimes hormone secreting tumors may develop in other organs.  Cushing
Syndrome occurs more frequently in females than in males, particularly women
in their thirties, following a pregnancy.  The prognosis is good if the
causative tumors can be removed and/or drug therapy suppresses adrenal
corticosteroid production.  (For more information on this disorder, choose
"Cushing" as your search term in the Rare Disease Database).

Congenital Adrenal Hyperplasia (CAH) is a group of disorders resulting
from defective synthesis of the corticosteroid hormones of the adrenal gland.
The adrenal gland becomes enlarged because it tries to produce more and more
of the hormones to compensate for their lack of effectiveness.  The adrenal
gland produces "male" sex hormones (androgens) in both males and females;
because these are overproduced in certain forms of CAH, the external
genitalia of some females with this disorder are masculinized to various
degrees.  Lack of glucocorticoids, especially cortisol, causes various kinds
of metabolic problems.  Lack of mineralocorticoids, primarily aldosterone,
causes salt and water imbalances.  In some cases, this can be fatal.   (For
more information on this disorder, choose "Adrenal Hyperplasia" as your
search term in the Rare Disease Database).

Therapies:  Standard

There is no known specific drug treatment for the Lipodystrophies.  Long-term
use of the dopamine receptor blocking drug Pimozide has not been effective.
Diet therapy has been shown to be of some value in the control of metabolic
problems.  The use of small, frequent feedings and partial substitution of
medium-chain triglycerides for polyunsaturated fats appears to be beneficial.
Plastic surgery with implants of monolithic silicon rubber for correction of
the deficient soft tissue of the face has been shown to be effective.  False
teeth may be useful in some cases for cosmetic reasons.  Long-term treatment
usually involves therapy for kidney and endocrine dysfunction.

If the patient has a genetic form of Lipodystrophy, genetic counseling
will be of benefit for patients and their families.  Other treatment is
symptomatic and supportive.

Therapies:  Investigational

Late stages of some cases of Lipodystrophy with severe kidney disease may
necessitate kidney transplantation.  This experimental procedure is
recommended only in cases where more conventional treatment has not shown
clinical improvement.  More research is necessary before the long-term
effects of this therapy can be evaluated for patients with Lipodystrophy.

Clinical trials are underway to study the pathogenic mechanisms and
genetic defects in patients.  Interested persons may wish to contact:

     Dr. Abhimanyu Garg
     University of Texas Southwestern Medical Center
     5323 Harry Hines Blvd.
     Dallas, TX  75235
     [phone]

to see if further patients are needed for this research.

This disease entry is based upon medical information available through
January 1992.  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 Lipodystrophy, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Endocrine Society
     9650 Rockville Pike
     Bethesda, MD  20014
     [phone]

     National Digestive Diseases Information Clearinghouse
     Box NDDIC
     Bethesda, MD  20892
     [phone]

     American Diabetes Association
     1660 Duke Street
     Alexandria, VA  22314
     1-800-232-3472

     Research Trust for Metabolic Diseases in Children
     Golden Gates Lodge, Weston Rd.
     Crewe CW1 1XN, England
     Telephone:  [phone]

     International Tremor Foundation
     360 W. Superior St.
     Chicago, IL  60610
     [phone]

For genetic information and genetic counseling referrals, please contract:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

ULTRASTRUCTURAL ABNORMALITIES OF THE LIVER IN TOTAL LIPODYSTROPHY:  A. Klar,
et al.; Arch Pathol Lab Med (February 1987, issue 111(2)).  Pp. 197-199.

FAMILIAL PARTIAL LIPODYSTROPHY:  TWO TYPES OF AN X LINKED DOMINANT
SYNDROME, LETHAL IN THE HEMIZYGOUS STATE:  J. Kobberling, et al.; J Med Genet
(April 1986, issue 23(2)).  Pp. 120-127.

LIPOLYSIS:  PITFALLS AND PROBLEMS IN A SERIES OF 1,246 PROCEDURES:  S.
Cohen; Aesthetic Plast Surg (1985, issue 9(3)).  Pp. 209-214.

MEMBRANOUS LIPODYSTROPHY (NASU DISEASE):  CLINICAL AND NEUROPATHOLOGICAL
STUDY OF A CASE:  M. Minagawa, et al.; Clin Neuropathol (Jan-Feb 1985, issue
4(1)).  Pp. 38-45.