Berardinelli-Seipe syndrome, also known as generalized congenital lipodystrophy, is a rare genetic disease characterized by dysfunction of body fat cells, resulting in the absence of a normal accumulation of fat in the body, as it begins to be stored in others, such as the liver and muscles.
One of the main features of this syndrome is the development of severe diabetes that normally begins at puberty, around 8 to 10 years of age, and should be treated with a low-fat, low-sugar diet and medications that help control diabetes and high cholesterol. .
- Symptoms of Berardinelli-Seipe syndrome are related to the reduction of normal adipose tissue in the body.
- Resulting in characteristics that may occur during the first year of life.
- Such as:.
In addition, symptoms such as high blood pressure, cysts in the ovaries and swelling on the sides of the neck, near the mouth, symptoms that can be observed since childhood, may also appear, becoming more evident from puberty.
Diagnosis of this syndrome is based on the evaluation of the patient’s clinical characteristics and tests that will identify cholesterol, liver, kidney and diabetes problems.
After confirmation of diagnosis, treatment focuses on controlling diabetes and cholesterol and avoiding complications of the disease, and medications such as metformin, insulin and simvastatin may be used.
In addition, you should also adopt a low-fat, omega-3-rich diet to help control cholesterol, as well as control the consumption of sugar and simple carbohydrates such as rice, flour and pasta, to help manage diabetes. what to eat if you have diabetes.
Complications of Berardinelli-Seipe syndrome depend on monitoring the patient’s treatment and body response to drugs used, with excess liver fat and cirrhosis, accelerated growth in childhood, early puberty and bone cysts, causing frequent fractures.
In addition, it is also common for diabetes to develop this disease, resulting in complications such as vision problems, kidney problems and an increased risk of cardiovascular disease.