Table 3.

Clinical Features That Increase the Suspicion of Lipodystrophy

Essential feature

Generalized or regional absence of body fat

Physical features

Failure to thrive (infants and children)

Prominent muscles

Prominent veins (phlebomegaly)

Severe acanthosis nigricans

Eruptive xanthomata

Cushingoid appearance

Acromegaloid appearance

Progeroid (premature aging) appearance

Comorbid conditions

Diabetes mellitus with high insulin requirements

≥200 U/d

≥2 U/kg/d

Requiring U-500 insulin

Severe hypertriglyceridemia

≥500 mg/dL with or without therapy

≥250 mg/dL despite diet and medical therapy

History of acute pancreatitis secondary to hypertriglyceridemia

Non-alcoholic steatohepatitis in a non-obese individual

Early-onset cardiomyopathy

PCOS

Other historical clues

Autosomal dominant or recessive pattern of similar physical features or metabolic complications

Significant hyperphagia (may manifest as irritability/aggression in infants/children)

Adapted from Ref. 18.