Clinical features, metabolic and autoimmune derangements in acquired partial lipodystrophy (Barraquer-Simons Syndrome)

Abstract

Introduction: Acquired partial lipodystrophy (APL) is an ultra-rare disorder characterized by unique loss of subcutaneous fat affecting mostly the face, neck, trunk and upper extremities. The precise prevalence of metabolic derangements and other co-morbidities amongst patients with APL is not clear. Therefore, we report clinical features, metabolic and autoimmune derangements in a large cohort.

Methods: Seventy-seven females and 9 males with median age of 40 years (range 8-78 years) with APL from two tertiary referral centers, UT Southwestern and National Institute of Diabetes and Digestive and Kidney Diseases in United States, were recruited into prospective observational studies. The demographic, health history, and laboratory data at the initial evaluation and follow-up were systematically collected and analyzed.

Results: The median age of onset of lipodystrophy was seven years (range, 2-51 years). About 15% had autoimmune diseases, 38% had either diabetes mellitus (DM) or glucose intolerance, 43% had hypertriglyceridemia, and 61% had fatty liver or metabolic dysfunction-associated steatohepatitis (MASH). A total of 71% of patients had low serum complement 3 (C3) levels, 8% had membranoproliferative glomerulonephritis, while drusen occurred in 62% of those with fundus examination (n=21). Patients with C3 hypocomplementemia, compared to those with normal serum C3 level, reported earlier onset of DM or glucose intolerance (median age 36 vs 56.5 years, p=0.007), hypertriglyceridemia (30 vs 48 years, p=0.03); and drusen (33 vs 60 years, p=0.14).

Conclusions: Our data reveal high risk of metabolic comorbidities and drusen in patients with APL, with earlier onset of these complications in those with C3 hypocomplementemia.

Keywords: Barraquer-Simons syndrome; Complement 3; acquired partial lipodystrophy; diabetes mellitus; drusen retinopathy; hypertriglyceridemia; hypocomplementemia.