[Familial partial lipodystrophy type 1. A rare or underdiagnosed syndrome?]

Area of Science:

• Endocrinology and Metabolic Disorders
• Genetics and Rare Diseases

Background:

• Familial partial lipodystrophy (FPL) type 1 is a rare genetic disorder characterized by fat redistribution, leading to metabolic complications.
• Early diagnosis is often delayed until severe cardiovascular or pancreatic issues arise.
• Distinguishing FPL type 1 from other lipodystrophies and endocrine disorders like Cushing syndrome is crucial for appropriate management.

Observation:

• A 45-year-old female presented with poor glycemic control (HbA1c 11.7%), severe hypertriglyceridemia (3000 mg/dl), hypertension, and characteristic fat distribution (thin limbs, central obesity, facial fullness).
• Clinical signs included acanthosis nigricans, prominent veins, and subcutaneous fat loss in the gluteal area.
• Low leptin levels (16.8 mg/ml) and a negative LMNA mutation analysis complicated the diagnosis, initially suggesting Kobberling syndrome.

Findings:

• Despite the absence of a known FPL type 1 mutation, the patient's presentation and low leptin levels strongly indicated a lipodystrophy syndrome.
• Treatment initiated with lifestyle modifications, fenofibrate, biphasic insulin, and enalapril resulted in substantial metabolic improvements.
• Key improvements included reduced HbA1c to 7.8% and triglycerides to 243 mg/dl, indicating effective disease management.

Implications:

• This case underscores the importance of considering FPL type 1 even in the absence of a family history or identified mutations.
• Aggressive management of metabolic abnormalities through pharmacotherapy and lifestyle changes can significantly improve patient outcomes.
• Further research into the genetic and molecular basis of FPL type 1 is needed to refine diagnostic criteria and therapeutic strategies.