Treatment for generalized congenital lipodystrophy, which is a genetic disease that does not allow the accumulation of fat under the skin leading to its accumulation in organs or muscles, aims to reduce symptoms and therefore varies in each case. However, most of the time it is done with:
- A high-carbohydrate diet such as bread, rice, or potatoes helps maintain energy levels in the body that are reduced due to lack of fat, allowing normal growth and development;
- Low-fat foods : helps prevent fat build-up in muscles and organs such as the liver or pancreas. Here's what to avoid: Foods high in fat.
- Leptin Replacement Therapy : Remedies like Myalept are used to replace the hormone produced by fat cells, helping to prevent the onset of diabetes or elevated levels of triglycerides.
In addition, treatment may also include the use of diabetes remedies or liver problems if these complications have already developed.
In more severe cases, where generalized congenital lipodystrophy causes complex lesions in the liver or causes changes in the face, surgery may be used to correct the aesthetics of the face, to remove lesions from the liver or, in more advanced cases, to perform a transplant of liver.
Symptoms of generalized congenital lipodystrophy
Symptoms of generalized congenital lipodystrophy, also known as Berardinelli-seip syndrome, usually arise during childhood and are characterized by a lack of body fat that gives a very muscular appearance and with protruding veins. In addition, the child can also present a very rapid growth, leading to the development of hands, feet or jaws very large for the age.
Over the years, if congenital lipodystrophy is not properly treated, it can cause the accumulation of fat in the muscles or organs, leading to consequences such as:
- Very large and developed muscles;
- Severe liver injury;
- Type 2 diabetes;
- Thickening of the heart muscle;
- Elevated levels of triglycerides in the blood;
- Increased spleen size.
In addition to these complications, generalized congenital lipodystrophy can also trigger the development of acanthosis nigricans, a skin problem that leads to the development of dark and thick spots on the skin, especially in the neck, armpit and groin areas. Learn more at: How to treat acanthosis nigricans.
Diagnosis of generalized congenital lipodystrophy
The diagnosis of generalized congenital lipodystrophy is usually made by a general practitioner or endocrinologist, by observing the symptoms or assessing the patient's history, especially if the patient is very thin but presents problems such as diabetes, elevated triglycerides, liver damage or acanthosis nigricans, for example.
In addition, the doctor may also ask for some diagnostic tests such as blood tests or MRIs, to assess blood lipid levels or the destruction of fat cells in the body, for example. In rare cases, a genetic test can also be done to identify if the mutation exists in the specific genes that cause generalized congenital lipodystrophy.
If the diagnosis of generalized congenital lipodystrophy is confirmed, genetic counseling should be done before pregnancy, for example, because there is a risk of passing the disease to the children.
