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Lipodystrophy Syndromes

Rare disorders of selective adipose tissue loss leading to severe insulin resistance, dyslipidemia, hepatic steatosis, and metabolic syndrome - manageable with metreleptin and metabolic therapy.

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 Endokrinoloji department. Book Appointment →

What is Lipodystrophy Syndromes?

Lipodystrophies are heterogeneous disorders characterized by selective adipose tissue loss; estimated prevalence 1-3/million. Adipose loss results in extreme insulin resistance, hypertriglyceridemia (>1000 mg/dL), hepatic steatosis (NAFLD/NASH), polycystic ovary syndrome, and early cardiovascular disease. Leptin deficiency drives metabolic dysfunction.

Classification: 1) Congenital generalized lipodystrophy (CGL): autosomal recessive, neonatal onset, AGPAT2/BSCL2/CAV1/PTRF mutations, 4 subtypes; 2) Familial partial lipodystrophy (FPLD): autosomal dominant, post-pubertal, LMNA/PPARG/PLIN1 mutations, Dunnigan-type most common; 3) Acquired generalized (AGL/Lawrence): autoimmune basis, often after viral infection; 4) Acquired partial (APL/Barraquer-Simons): facial-cervical-truncal involvement, complement C3 reduction; 5) HIV-associated lipodystrophy.

Diagnosis: physical examination (selective adipose loss pattern), DXA total/regional fat mass, leptin level (low <4 ng/mL in CGL/AGL), genetic testing (NGS panel: AGPAT2, BSCL2, LMNA, PPARG, PLIN1, CAV1, PTRF). Metabolic evaluation: HbA1c, fasting glucose-insulin (HOMA-IR), triglycerides, LDL, ALT, liver USG/MRI. Cardiovascular screening: ECG, echocardiogram, carotid intima-media thickness.

Symptoms

Selective adipose tissue loss
Acanthosis nigricans (insulin resistance sign)
Hepatomegaly and abdominal distension
Severe hypertriglyceridemia (>1000 mg/dL)
Type 2 diabetes (severe insulin resistance)
Polycystic ovary syndrome (women)

Risk Factors

Family history of lipodystrophy
Consanguineous marriage (CGL)
LMNA/AGPAT2/BSCL2 mutation
Autoimmune disease (AGL)
Long-term HIV/HAART therapy
Female + post-pubertal (FPLD)

When to See a Doctor?

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

  • Selective adipose tissue loss
  • Severe hypertriglyceridemia (pancreatitis)
  • Difficult-to-treat type 2 diabetes
  • Hepatic steatosis + insulin resistance
  • Acanthosis nigricans
  • Family history of lipodystrophy

Treatment Methods

01
Metreleptin (recombinant leptin) - generalized lipodystrophy
02
Insulin sensitizers (metformin, pioglitazone)
03
Statin + fibrate (severe TG)
04
Low-fat diet (TG control)
05
Insulin therapy (severe diabetes)
06
Cosmetic surgery (autologous fat transfer)

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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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.