What Is Inherited Lipodystrophy?
Lipodystrophy is a problem with the way your body uses and stores fat. It's called "inherited" because you're born with it. It comes from the genes you got from one or both of your parents. It makes you lose the fat under your skin, so it can change the way you look. And it can also cause other changes in your body.
Scientists have learned a great deal about how this disease works. You can't cure it, but with your doctor's help, the right treatment, a low-fat diet, and plenty of exercise, it's something you can live with.
Because fat tissue makes the hormone leptin, people with inherited lipodystrophy often don't have enough of this chemical. Leptin tells your body you've eaten enough and to make insulin. The condition can also make fat build up in places it shouldn't, like the blood, heart, kidneys, liver, and pancreas. This condition causes other problems, too, including diabetes, high cholesterol and triglycerides, and fatty liver disease.
Inherited lipodystrophy is actually a group of related illnesses. The most common are:
- Congenital generalized lipodystrophy (CGL), also called Berardinelli-Seip syndrome
- Familial partial lipodystrophy (FPL)
Researchers have found several genes that cause inherited lipodystrophy. That's why there are different subtypes. Sometimes, just one bad gene from one parent can cause it; sometimes, you must get a gene from each parent.
It’s also possible to have a bad gene but not get the disease.
The two main kinds of inherited lipodystrophy have several subtypes. Each of those has its own specific symptoms. Their severity varies, too.
CGL. Babies look very muscular because they have almost no body fat. Most have a large belly button or a hernia, or bulging, around it. They grow fast and are very hungry. Their skin may be dark, thick, and velvety in places, especially at the neck, armpits, and where their legs meet the trunk of their body.
Infants usually develop an enlarged liver. Young kids have problems controlling their blood sugar and triglyceride levels. Some children will have trouble thinking and learning.
Adults with CGL have large hands and feet and a strong, square jawbone because their hormone balance is off and they keep growing. They could have larger than usual sex organs (clitoris, or penis and testicles).
A woman might have irregular periods or no periods. They could have polycystic ovary syndrome (PCOS). They'll probably have extra hair on their upper lip and chin.
FPL. The most common form shows up around puberty. Children lose body fat from their arms, legs, and trunk while they gain fat in their face, chin, and neck. They'll get dark, velvety skin in folds and creases. They could have insulin resistance and an enlarged liver, too.
It's easier to recognize FPL in women, since men tend to look muscular even without the disease. About one-quarter of women get more body hair. They can also have problems with their periods and may get PCOS. These women are more likely to have serious complications including:
- High triglyceride and low HDL (the "good" cholesterol) levels
- Heart disease
Getting a Diagnosis
Your doctor might ask you these questions:
- What symptoms have you noticed?
- When did you first see them?
- Are changes in how your child looks only in certain areas, or all over?
- Have you had their blood sugar, cholesterol, and triglyceride levels checked?
- Have they had bad belly aches or oily poop?
- What other health problems do they have?
- Are their parents related by blood?
- Does anyone else in the family have problems with body fat?
Since lipodystrophy is passed on by genes, your family history is very important.
After talking to you and doing a full exam, the doctor may want to do some tests to learn more about what type of lipodystrophy your child has.
Blood tests check:
- Blood sugar
- Kidney health
- Liver enzymes
- Uric acid
Checking your child's blood for leptin won't diagnose lipodystrophy, but it can help your doctor decide how to treat it.
Urine tests check for kidney problems.
X-rays use radiation in low doses to make images of structures inside their body. These can show bone problems that some people with lipodystrophy have.
For a skin biopsy, the doctor will take a small piece of skin and check the cells under a microscope.
Genetic testing may find the specific problem genes to pinpoint what type of lipodystrophy they have.
Your doctor may also look for a pattern of fat loss with:
- Skinfold thickness measurements, checking how much skin they can pinch between their fingers at specific spots on the body
- A special X-ray that measures bone mineral density
- A special whole-body MRI (magnetic resonance imaging) that uses powerful magnets and radio waves to make pictures showing tissues with fat
Questions for Your Doctor
- What subtype of lipodystrophy is this?
- Do we need any more tests?
- How many people with this disease have you treated?
- What's the best way for us to manage this condition?
- What other symptoms should I watch for?
- How often should we see you?
- Do we need to see any other doctors?
- Is there anything I can do that will help my child look and feel "normal"?
- Can we be part of a lipodystrophy research study?
- Is it important to let other family members know they have this disease?
Since you can't replace the missing body fat, your aim will be to avoid complications of the disease. A healthy lifestyle plays a big role.
Everyone with lipodystrophy should eat a low-fat diet. But children still need enough calories and good nutrition so they grow properly.
Exercise, especially if you have FPL, will help you stay healthy, too. Physical activity lowers blood sugar and can keep fat from building up where it shouldn’t.
People with CGL may be able to get shots of metreleptin (Myalept) to replace the missing leptin and help prevent other diseases. Statins and omega-3 fatty acids, found in some fish, can help control high cholesterol or triglycerides, too.
If your child has diabetes, they'll need to take insulin or other drugs to control their blood sugar.
Women shouldn't use birth control pills or hormone replacement therapy for menopause because they can make levels of fats worse.
Your doctor may prescribe a lotion or cream to lighten and soften dark skin patches. Over-the-counter bleaches and skin scrubs probably won't work and could irritate the skin.
As your child with CGL gets older, they may be able to get plastic surgery for their face with skin grafts from their thighs, belly, or scalp. Doctors can also use implants and injections of fillers to help reshape facial features. People with FPL who have extra fat deposits can have liposuction to get rid of some areas, but fat may build up again. Talk to your doctor about what approach for their appearance makes sense and when.
Taking Care of Your Child
Because this condition affects how someone looks, care and compassion are as important as medicine. Focus on keeping your child healthy and giving them a meaningful, rewarding life.
Set the tone for others. Be positive and open-minded. People may not know how to react or what to say to keep from prying or offending or embarrassing you. When someone asks about them, be matter-of-fact about their condition.
Do what you can to boost self-esteem. Try to focus your praise on achievements, rather than appearance.
Encourage friendships. But kids will be kids, so prepare them for unkind looks and words. Help them practice how they can respond with role-play and humor.
Think about getting professional counseling. Someone with training can help your child and your family sort out their feelings as they deal with the challenges of this disease.
What to Expect
How long and how well someone with inherited lipodystrophy lives depends on how well they can manage the complications. Heart, blood vessel, liver, and kidney problems are common, and sometimes they're life-threatening. Diabetes is often hard to control. Some people have bone, immune system, or hormone-related troubles.
Women with CGL usually can't have children, but men can. Someone with FPL has a 50/50 chance of passing the faulty gene to their child.
Work closely with your doctor to help prevent the most serious complications for your child's subtype. Researchers are studying this disease, and they may find more treatment options.
Living with a condition like this can feel very isolating. It really helps to reach out. Lipodystrophy United has information about the disease as well as an online community for people with lipodystrophy and their families. You can also add your information to a free, confidential registry to help researchers find new treatments.