Rare disease of the subcutaneous fat tissue

In Germany, only a few hundred cases of lipodystrophy are known. On average, there are only three affected persons per million inhabitants – usually more men than women are affected. The metabolic disorder is characterized by the fact that the fat cells of the adipose tissue under the skin (subcutaneous) do not produce the hormone leptin, or produce it only to a limited extent. The result: severe weight loss within a very short time. On the one hand, there is a lack of subcutaneous fat tissue, and on the other hand, fats are mistakenly deposited in the muscles and liver. This favors the development of a fatty liver. In addition, insulin resistance, diabetes mellitus and/or hypertriglyceridemia (pathological excess of fats in the body) often occur. In addition, the risk of diseases of the cardiovascular system increases.

A distinction is made between generalized and partial lipodystrophy. The generalized form can be inherited (Berardinelli-Seip syndrome) and the loss of subcutaneous fat tissue occurs all over the body. The disease often manifests in childhood and adolescence. Acquired generalized lipodystrophy, also known as Lawrence syndrome, forms a subtype. Partial lipodystrophy can be divided into familial partial and acquired partial (Barraquer-Simons syndrome). In both forms, either only the upper body or only the lower body is affected.

Possible indications of lipodystrophy:

  • Acanthosis nigricans (skin disease)
  • Excessive growth of certain body parts
  • Increased venous markings on arms and legs
  • Prominent belly button
  • Excessive hair on individual areas or the entire body (hypertrichosis)
  • Eating disorder, unrestrained hunger, excessive food intake (hyperphagia)
  • Hearing loss due to osteclerosis (disease of the inner ear bone)
  • Tissue hardening in the metaphysis (metaphyseal sclerosis)
  • Increase in bone density
  • Compacta thickening (outer bone wall)

Other diseases can also be associated with weight loss, including certain cancers, cachexia (severe emaciation due to a chronic disease), diabetes mellitus (incorrectly adjusted), adrenal insufficiency (Addison’s disease), a diseased adrenal cortex, anorexia, hyperthyroidism, and malabsorption syndromes (diseases that cause the absorption of nutrients in the small intestine to be impaired). These diseases must first be ruled out. Diagnosis can be made by documenting fat tissue loss, anthropometric examinations (height, weight, waist circumference, etc.), evaluation of metabolic situation (metabolism), and by means of family history.

Laboratory tests:

  • Routine tests (e.g. on liver, pancreas)
  • Celiac disease diagnostics (inflammatory bowel disease)
  • Lipid profile check (hypertriglyceridemia, dyslipidemia)
  • Insulin resistance, increased insulin secretion
  • Low leptin concentration
  • Hyperandrogenemia (increased production of male sex hormones)
  • Genetic examinations
  • Screening of arteries and veins (vascular disease)

Imaging procedures:

  • Ultrasound of liver and pancreas
  • Bone densitometry (DXA)
  • Analysis of muscle percentage and fat mass (dual x-ray absorptiometry)
  • Computed tomography

Treatment options:

  • Management for any complications of liver, pancreas, fat deficiencies and malabsorption
  • Nutritional history and counseling
  • Drug treatment (leptin replacement therapy)
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