Berardinelli-Seipe Syndrome, also known as generalized congenital lipodystrophy, is a rare genetic disease characterized by the malfunctioning of fat cells in the body, causing there to be no normal accumulation of fat in the body, as it starts to be stored in others such as liver and muscles.
One of the main characteristics of this syndrome is the development of severe diabetes that normally starts during puberty, around 8 to 10 years old, and should be treated with a diet low in fats and sugars and with medications that help control diabetes and high cholesterol.
Symptoms
The symptoms of Berardinelli-Seipe Syndrome are linked to the reduction of normal fat tissue in the body, leading to characteristics that may appear in the first year of life, such as:
- High cholesterol and triglycerides; Insulin resistance and diabetes; Big, elongated chin, hands and feet; Increased muscles; Enlarged liver and spleen, causing swelling in the belly; Heart problems; Rapid growth; Exaggerated increase in appetite, but with weight loss; irregular menstrual cycles; thick and dry hair.
In addition, symptoms such as high blood pressure, cysts in the ovaries and swelling on the sides of the neck, near the mouth, may also appear. These symptoms can be observed since childhood, becoming more evident from puberty.
Diagnosis and Treatment
The diagnosis of this syndrome is made based on the assessment of the patient's clinical characteristics and tests that will identify problems with cholesterol, liver, kidneys and diabetes.
From the confirmation of the diagnosis, the treatment is mainly aimed at controlling diabetes and cholesterol and avoiding the complications of the disease, and medications such as Metformin, insulin and Simvastatin can be used.
In addition, you should also eat a low-fat, high-omega-3 diet to help control cholesterol, in addition to controlling the consumption of sugar and simple carbohydrates such as rice, flour and pasta, to help control diabetes. See what to eat in diabetes.
Complications
Complications of Berardinelli-Seipe Syndrome depend on the follow-up of the treatment and the patient's body's response to the medications used, with the possibility of excess fat in the liver and cirrhosis, accelerated growth in childhood, early puberty and cysts in the bones, causing frequent fractures.
In addition, it is also common that diabetes presented in this disease leads to complications such as vision problems, kidney problems and increased risk of cardiovascular diseases.
