Table 2.

Clinical Characteristics That Increase the Suspicion of Lipodystrophy

Core clinical characteristic for lipodystrophy Loss or absence of subcutaneous body fat in a partial or generalized fashion

Core clinical characteristic for familial partial lipodystrophy: Loss of subcutaneous body fat, typically occurring around or shortly after puberty, occurring in the extremities and/or gluteal region with sparing of fat loss or accumulation of excess fat in the face and neck or intraabdominal area

Supportive clinical characteristics for lipodystrophy: Presence of diabetes with evidence of severe insulin resistance ○ Diabetes mellitus with requirement for high doses of insulin, eg, requiring ≥200 U/day, ≥2 U/kg/day, or currently taking U-500 insulin ○ Ketosis-resistant diabetes

Other evidence of severe insulin resistance ○ Acanthosis nigricans ○ PCOS or PCOS-like symptoms (hyperandrogenism, oligomenorrhea, and/or polycystic ovaries)

Presence of hypertriglyceridemia ○ Severe hypertriglyceridemia (≥500 mg/dL) ○ Triglyceride levels that are non-responsive to therapy and/or modifications to diet (≥250 mg/dL) ○ History of pancreatitis associated with hypertriglyceridemia

Evidence of hepatic steatosis or steatohepatitis ○ Hepatomegaly and/or elevated transaminases in the absence of a known cause of liver disease (eg, viral hepatitis) may be consistent with non-alcoholic fatty liver disease. ○ Radiographic evidence of hepatic steatosis (e.g., on ultrasound or CT)

Family history of similar physical appearance and/or history of fat loss

Prominent muscularity and phlebomegaly (enlarged veins) in the extremities

Disproportionate hyperphagia (cannot stop eating, waking up to eat, fighting for food)

Secondary hypogonadism in a male or primary/secondary amenorrhea in a female patient

Abbreviations: CT = computed tomography; PCOS = polycystic ovarian syndrome.