. 2025 Jun 2;17:186. doi: 10.1186/s13098-025-01733-5

Table 2.

Diagnostic criteria for familial partial lipodystrophy [3, 5, 8, 11]

Criteria and description
Mandatory	Major	Minor
Documented fat scarcity by: A. Skinfold measurement on the thigh (≤ 10 mm for men and ≤ 20 mm for women) [11, 20] OR B. Dual-energy X-ray absorptiometry (DXA) with a fat mass ratio (FMR) > 1.2 [34] OR C. Lower limbs fat mass < 25% of total body fat (also via DXA), after exclusion of other causes [12]	A. First-degree relative with a documented diagnosis of familial partial lipodystrophy (via genetic or clinical diagnosis) B. Severe hypertriglyceridemia (≥ 500 mg/dL) or acute pancreatitis due to hypertriglyceridemia C. Diabetes, impaired fasting glucose, or glucose intolerance D. Metabolic dysfunction-associated steatotic liver disease	Clinical history A. Family history of acute pancreatitis secondary to hypertriglyceridemia B. Polycystic ovary syndrome C. First-degree family history of diabetes mellitus or hypertriglyceridemia (diagnosed before age 40) D. Personal or family history of early coronary artery disease (in the patient or first-degree relative) E. Systemic hypertension diagnosed before age 40 Laboratory tests A. Triglycerides between 150 and 499 mg/dL and/or high-density lipoprotein < 50 mg/dL (women) or < 40 mg/dL (men), B. Hypoleptinemia (< 8 ng/mL in men and < 12 ng/mL in women) [83, 90] Physical examination A. Normal body mass index or overweight (BMI < 30 kg/m²) B. Waist-to-hip ratio > 0.85 (women) and > 0.95 (men) C. Acanthosis nigricans D. Prominent muscularity of the limbs E. Fat deposition in the suprapubic, cervical, and/or submandibular regions (double chin sign) and filling of the supraclavicular área

Criteria and description

Mandatory

Major

Minor

Documented fat scarcity by:

A. Skinfold measurement on the thigh (≤ 10 mm for men and ≤ 20 mm for women) [11, 20] OR

B. Dual-energy X-ray absorptiometry (DXA) with a fat mass ratio (FMR) > 1.2 [34] OR

C. Lower limbs fat mass < 25% of total body fat (also via DXA), after exclusion of other causes [12]

A. First-degree relative with a documented diagnosis of familial partial lipodystrophy (via genetic or clinical diagnosis)

B. Severe hypertriglyceridemia (≥ 500 mg/dL) or acute pancreatitis due to hypertriglyceridemia

C. Diabetes, impaired fasting glucose, or glucose intolerance

D. Metabolic dysfunction-associated steatotic liver disease

Clinical history

A. Family history of acute pancreatitis secondary to hypertriglyceridemia

B. Polycystic ovary syndrome

C. First-degree family history of diabetes mellitus or hypertriglyceridemia (diagnosed before age 40)

D. Personal or family history of early coronary artery disease (in the patient or first-degree relative)

E. Systemic hypertension diagnosed before age 40

Laboratory tests

A. Triglycerides between 150 and 499 mg/dL and/or high-density lipoprotein < 50 mg/dL (women) or < 40 mg/dL (men),

B. Hypoleptinemia (< 8 ng/mL in men and < 12 ng/mL in women) [83, 90]

Physical examination

A. Normal body mass index or overweight (BMI < 30 kg/m²)

B. Waist-to-hip ratio > 0.85 (women) and > 0.95 (men)

C. Acanthosis nigricans

D. Prominent muscularity of the limbs

E. Fat deposition in the suprapubic, cervical, and/or submandibular regions (double chin sign) and filling of the supraclavicular área