Lipodystrophy

Lipodystrophy is a rare disorder that affects how the body stores and uses fat. Children with lipodystrophy may have little or no body fat. Instead, fat builds up in places it shouldn’t, like the blood and internal organs. This can lead to diabetes and other health problems.

Lipodystrophy can be inherited, which means the condition is passed down from the parents and it can develop at any time in life. Lipodystrophy can also be acquired without a known genetic cause.

The signs and symptoms of lipodystrophy can vary in each individual, depending on the cause. 

The two most common forms of inherited lipodystrophy are called congenital generalized lipodystrophy and familial partial lipodystrophy. Each of these forms of lipodystrophy has different subtypes. Your child’s symptoms will depend on which subtype of lipodystrophy he or she has.

Congenital generalized lipodystrophy

In children with congenital generalized lipodystrophy, fat builds up in the blood and organs, causing problems such as diabetes, high triglyceride (a type of fat) and fatty liver disease.

Babies born with this type of lipodystrophy have almost no body fat. Instead, they have a muscular appearance and usually have a strong appetite and grow quickly. Children with this condition may also have:

• Skin that is dark and velvety in the areas of the armpits, neck and groin
• An enlarged liver
• Enlarged belly button or bulging around the belly button
• Slightly enlarged jaw, feet and hands

Familial partial lipodystrophy

Symptoms of the most common form of this lipodystrophy show up at puberty when children lose fat from their arms, legs and torso, but gain fat in the face, chin and neck.

People with this disorder may develop diabetes, high triglyceride (fat) and heart problem. Women with familial partial lipodystrophy tend to have increased body hair, irregular menstrual periods and enlarged ovaries. High triglyceride levels can sometimes cause pancreatitis, an inflammation of the pancreas that can cause severe abdominal pain and vomiting.

There are multiple types of acquired lipodystrophy. Symptoms vary among them and even among people with the same type. Females are more likely than males to develop an acquired lipodystrophy.

Acquired generalized lipodystrophy

Fat is lost in the face, neck, arms and legs. Complications can include fatty liver disease, diabetes, heart disease, pancreatitis, and irregular periods in women.

Acquired partial lipodystrophy

The disorder typically appears before age 15 with the gradual loss of fat from the face, neck and upper torso.

Highly active antiretroviral induced lipodystrophy

This form may develop in people who are being treated with certain medications for HIV infection. Fat may be lost from the face, arms and legs and gained in the chin, waist and back of the neck.

Inherited lipodystrophy is a genetic disorder, meaning one or both parents typically pass the abnormal gene to their child. The type of lipodystrophy your child has depends on which genes she or he inherited.

Acquired lipodystrophy is not passed down from parent to child, but develops at some point in childhood, adolescence or adulthood. It can be caused by:

• Medications
• An infection such as measles or pneumonia
• An autoimmune disease such as rheumatoid arthritis

The cause of an acquired lipodystrophy can also remain unknown. 

If a doctor believes your child may have lipodystrophy, he or she will take a detailed family history as one way to determine whether lipodystrophy may be inherited. A child can have inherited lipodystrophy even without a suggestive family history. Your child’s doctor will also conduct a complete physical exam and may measure the thickness of your child’s skinfolds. This can help determine the pattern of fat loss.

Additional diagnostic procedures may include:

• Blood tests to measure levels of leptin (a hormone produced by fat tissue), sugar, and triglyceride (fat) in the blood
• An ultrasound of the liver to check for fat accumulation
• An MRI to show fat accumulation and loss

Your child’s doctor may order genetic testing to pinpoint which genes are responsible.

Your child’s treatment will depend on the type of lipodystrophy he or she has. Because of the complex nature of the disease, your child may need to be treated by a team of healthcare providers that includes pediatricians, endocrinologists, hepatologists, cardiologists, nutritionists and other providers. Treatment may include:

• A low-fat diet
• Physical activity to reduce blood sugar and fat
• In some cases, a medication called metreleptin
• Medications to treat diabetes
• Medications to manage high triglyceride (fat)
• Medications to manage irregular periods (in young women)

At CHOP, clinicians in the Division of Endocrinology and Diabetes, Adolescent Polycystic Ovarian Syndrome (PCOS) Clinic, Lipid Heart Clinic, Division of Gastroenterology, Hepatology and Nutrition, and Division of Human Genetics collaborate in the care of individuals with lipodystrophy. We also work closely with our colleagues at Penn. Opportunities to participate in research studies may also be available.

In children who have lipodystrophy, the loss and buildup of fat may be improved. Living with lipodystrophy means eating a low-fat diet, staying active and managing other related conditions, such as diabetes and high triglyceride levels. Counseling can help your family with the emotional aspects of this disorder.