Clinical Features, Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy (Barraquer-Simons...

Area of Science:

• Endocrinology
• Genetics
• Ophthalmology

Background:

• Acquired partial lipodystrophy (APL) is a rare condition causing loss of subcutaneous fat, primarily affecting the face, neck, trunk, and upper limbs.
• The prevalence of metabolic derangements and associated comorbidities in APL patients remains unclear.

Purpose of the Study:

• To investigate the clinical features, metabolic derangements, and autoimmune comorbidities in a large cohort of APL patients.
• To determine the association between C3 hypocomplementemia and the onset of metabolic complications and ocular findings in APL.

Main Methods:

• A prospective observational study involving 86 patients (77 females, 9 males) with APL from two major US referral centers.
• Systematic collection and analysis of demographic, health history, and laboratory data at initial evaluation and follow-up.

Main Results:

• The median age of APL onset was seven years. High rates of comorbidities were observed: 15% autoimmune diseases, 38% diabetes mellitus (DM) or glucose intolerance, 43% hypertriglyceridemia, and 61% fatty liver or metabolic dysfunction-associated steatohepatitis (MASH).
• 71% of patients had low serum complement C3 (hypocomplementemia). Drusen were present in 62% of examined patients. C3 hypocomplementemia was associated with earlier onset of DM/glucose intolerance (36 vs. 56.5 years) and hypertriglyceridemia (30 vs. 48 years).

Conclusions:

• APL patients exhibit a significant risk for metabolic comorbidities and ocular manifestations like drusen.
• C3 hypocomplementemia in APL patients is linked to an earlier onset of metabolic complications, highlighting its role in disease progression.