1-877-YALEMDS

Lipodystrophy
• A group of rare diseases that cause
abnormal distribution of fat throughout a
person's body
• Most common symptom is noticeable and
consistently decreasing fat in some regions
on the body
• Treatment includes dietary changes to help
manage symptoms
• Involves digestive diseases Overview
Related Specialists Body fat plays a vital role in human health. The fat, or adipose, tissue
just underneath our skin keeps us warm and provides protective
cushioning. It also helps maintain healthy sugar levels in the blood, a
complex metabolic process.  

Lipodystrophy is a group of rare syndromes that cause a person to

lose fat from some parts of the body, while gaining it in others,
including on organs like the liver. A person can be born with
lipodystrophy or develop it later in life. In either case, the resulting

Meliss James Dieter inability to maintain fat tissue beneath the skin can have severe, life-
threatening consequences over time.
a Clune Lindsk
Mastro MD og Health complications usually begin early in the disease process,
Microvascular...
ianni MD because with little fat—and therefore low levels of its accompanying
Orthopaedics...
MD hormone, leptin—the body has a difficult time properly processing
sugar (glucose) and fats (lipids). As a result, these substances build up
in the bloodstream. This usually leads to the development of diabetes
and a higher risk of cardiovascular disease.

Yale Medicine’s physicians, who have expertise in rarely seen

disorders, work to ensure that lipodystrophy is detected as early as
possible.  

What is lipodystrophy?
Lipodystrophy syndromes are rare disorders marked by a lack of body
fat just beneath the skin’s surface. Which type a person has is
determined by the patterns of fat loss on the body and whether the
disease is acquired or genetic. Due to the body’s inability to process
fat, lipodystrophy leads to severe metabolic, hormonal, cardiovascular
and fat storage disorders. Because the disease affects an individual’s
outward appearance, it can also have deep psychological effects that
may need to be addressed by a mental health care professional.

People who have lipodystrophy can end up with extra fat deposits in
their legs, on the face, the back of the neck, or abdomen, and within
the liver (called non-alcoholic fatty liver disease). This happens
because the body is unable to maintain a layer of fat beneath the
skin’s surface, so the fat he or she consumes concentrates elsewhere
in the body.  

What types of lipodystrophy

exist?
The first type of lipodystrophies includes those that are present at
birth: 

• Congenital generalized lipodystrophy (CGL) is caused by a genetic

mutation and can often be detected within the first year of a child’s
birth. This is because the body’s inability to form fat tissue may
make a child’s muscles and veins more visible. A person with CGL
may develop hyperphagia—a term to describe excessive hunger
(and overeating)—possibly due to low levels of the fat hormone
called leptin. People with this subtype are likely to develop diabetes
due to an early struggle with high sugar (glucose) levels in the
blood. 

• Familial partial lipodystrophy (FPLD) is also a genetic condition

but can be more difficult to diagnose due to a child’s normal-
seeming appearance at birth and during early childhood. However,
as the child ages, the fat loss becomes noticeable, and excess fat
deposits may show up in other areas of the body, such as the face
and neck. Women with FPLD may experience menstrual irregularity,
but not infertility.

The second type of this disease includes patients who acquire it

during their lifetime: 

• Acquired generalized lipodystrophy (AGL) can be especially

difficult to detect given its progression of fat tissue loss, typically
starting in teenage years. (In rare cases, patients have developed
the condition after age 30). AGL affects about three times as many
women as men. While sources of the disorder vary, some potential
reasons it might develop include panniculitis (a rare skin disorder
that affects the layer of fat beneath the skin) and autoimmune
diseases. Those with AGL suffer from high triglyceride (a type of
fat) levels and type 2 diabetes. 

• Acquired partial lipodystrophy (APL) typically affects only the

upper body, including the face and neck. The subtype of this
disease is four times more common in women and patients tend to
begin losing fat in childhood or teenage years. Some individuals
may carry excess fat around their abdomen, legs or the buttocks.
Unlike other subtypes, APL is less often linked to metabolic
complications, but it can severely damage the kidneys due to fat
accumulation (and resulting inflammation) on the organ. APL has
also been associated with autoimmune diseases like
dermatomyositis, lupus and proteinuria (which is defined as
detectable protein in the urine). 
What are the symptoms of
lipodystrophy?
The most common symptom is a noticeable and consistently
decreasing amount of fat in some regions on the body. Depending on
the type of lipodystrophy syndrome and a person’s age, he or she may
not experience health problems for years. Those who have a subtle
subtype of the syndrome may show unusually and inexplicably high
levels of cholesterol, triglycerides, and glucose from routine blood
tests. The symptoms also range in severity, from an insatiable appetite
on one end, to excruciating pain due to pancreatitis (inflammation of
the pancreas) on the other.   

How is it diagnosed?
A physician will diagnose the disease based on a number of factors.
These include a physical exam, a family history of medical conditions,
body fat composition gathered from a whole-body MRI, and the
presence of any metabolic disorders, like diabetes. Another sign may
be if a patient suffers from hyperglycemia (too much sugar in the
blood) or hypertriglyceridemia (too many triglycerides in the blood)
that is resistant to normal treatment. A physician may suggest genetic
testing or whole-exome sequencing if he or she suspects you have a
genetic form of lipodystrophy. 

What treatment options are

available for lipodystrophy?
A strict, low-fat diet and exercise program is recommended as a
starting point to manage the condition. While recommendations vary,
patients are urged to follow a Mediterranean-style diet that is low in
processed foods, fats and sugars, and high in fiber, fresh fruits and
vegetables. 

The primary drug used to manage lipodystrophy is called metreleptin,

a synthetic version of the fat hormone, leptin (which is usually made
and stored in adipose tissue). This hormone helps orchestrate the
metabolic processes of the body and can help reduce high cholesterol
and triglyceride levels. 

While there is no cure for lipodystrophy, the conditions that frequently

accompany it, like diabetes, can be managed. Patients may also
explore cosmetic surgery to address the uneven distribution of fat
throughout their body. 

What makes Yale Medicine

unique in treating this disease?
Yale Medicine brings together multi-disciplinary expertise for
management of lipodystrophy syndromes. Our physicians have a long
track record of research on the mechanisms underlying lipodystrophy
and management of its complications, including diabetes, elevated
blood lipid levels and fat accumulation in the liver. “Our work aims to
increase awareness of lipodystrophic syndromes within the large
landscape of fatty liver disease, otherwise known as non-alcoholic
fatty liver disease (NAFLD),” says Silvia Vilarinho, MD, PhD, a
physician-scientist in the digestive diseases department.
Related Fact Sheets

Condition Condition

Gaucher Disease Familial hypercholesterolemia

Gaucher disease is a rare, inherited disorder that causes Familial hypercholesterolemia (FH) is a genetic disorder
fatty substances to build up in the spleen, liver and other that causes abnormal buildup of LDL, or "bad"
organs. cholesterol. Learn about symptoms and treatment.

Condition, Procedure Condition

Alcohol-related Liver Disease Amyloidosis

Alcohol-related liver disease is liver damage caused by Amyloidosis is a disease marked by the accumulation of
excessive consumption of alcohol. Learn about abnormally folded proteins in organs and tissues. Learn
symptoms and treatment. about symptoms and treatments.

Related Clinical Trials

Obesity & Weight Management, Liver

Pathogenesis of Pediatric Nonalcoholic Fatty Liver Disease (NAFLD)

Ages 12 years - 18 years

Gender Both
Date 12/11/2020

Children's Health, Liver

The Role of Hepatic De Novo Lipogenesis (DNL) in the Pathogenesis of Hepatic Steatosis

Ages 12 years - 30 years

Gender Both
Date 04/19/2016

Related News

RESEARCH & INNOVATION, PATIENT STORIES FAMILY HEALTH

PATIENT STORIES
When a Routine Doctor’s Visit Can New Weight-Loss Drugs
A Life Saved By... Leads To... Really Treat...