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Lipodystrophy Syndromes

Rare metabolic disorders with adipose tissue loss or maldistribution.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Internal Medicine department. Book Appointment →

What is Lipodystrophy Syndromes?

Lipodystrophy syndromes are rare metabolic diseases characterized by generalized or partial loss of subcutaneous adipose tissue. Adipose tissue loss leads to leptin deficiency and ectopic fat accumulation (liver, muscle, pancreas), causing severe insulin resistance, dyslipidemia, and fatty liver.

There are congenital (Berardinelli-Seip syndrome — generalized) and acquired (HIV-associated lipodystrophy, autoimmune partial lipodystrophy) forms. Familial partial lipodystrophy (Dunnigan type — LMNA mutation) presents with limb and trunk fat loss and fat accumulation in the face and neck.

Metreleptin (recombinant leptin) is approved in generalized lipodystrophy and partial lipodystrophy with severe metabolic complications; it dramatically improves metabolic parameters.

Symptoms

Subcutaneous fat loss (partial or generalized)
Prominent muscle definition
Acanthosis nigricans (severe insulin resistance sign)
Hepatomegaly and fatty liver
Severe hypertriglyceridemia (pancreatitis risk)
Early diabetes and cardiovascular disease

Risk Factors

Genetic mutations (AGPAT2, BSCL2, LMNA, PPARG)
HIV infection and ART use (acquired form)
Autoimmune diseases
Panniculitis

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • If marked subcutaneous fat loss is noticed
  • If severe insulin resistance and early diabetes develop
  • If triglyceride levels are very high (pancreatitis risk)
  • If fat distribution changes during HIV treatment

Treatment Methods

01
Metreleptin (in generalized lipodystrophy — FDA approved)
02
Insulin resistance management (metformin, thiazolidinediones)
03
Severe hypertriglyceridemia therapy (fibrates, omega-3)
04
NAFLD/NASH management
05
ART regimen change in HIV lipodystrophy
06
Genetic counseling

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.