Barraquer-Simons syndrome: Almost 250 ptns have been reported to have this syndrome, partial lipodystrophy kidney lipodystrophy and kidney disease

ACQUIRED PARTIAL LIPODYSTROPHY

 

Barraquer-Simons syndrome: Almost 250 ptns have been reported to have this syndrome (also known as partial acquired cephalothoracic lipodystrophy or acquired partial lipodystrophy) characterizing by👉 lost adipose tissue from the face & upper trunk, with spared or augmented adiposity in the rest of the body.

 

Pathogenesis: Most ptns of this syndrome have accelerated complement activation and s. IgG, called 👉C3 nephritic factor that is responsible of inducing adipose tissue lysis expressing adipsin. Heterogenic adipsin expression in various sites of adipose tissues may declare selectivity in adipose tissue loss.

 

Clinical features: This disorder starts in childhood or adolescence, often in girls post- febrile illness. Fat loss usually appears over months or years. Autoimmune diseases can be associated with this disease e.g., dermatomyositis, hypothyroidism, pernicious anemia, rheumatoid arthritis, temporal arteritis, or👉 mesangiocapillary GN have been observed in these ptns. Some ptns, however, show acanthosis nigricans or clinical criteria of ovarian hyperandrogenism. Despite the lost SC fat in many areas of the body, intramuscular, intraperitoneal, & perirenal fat in addition to bone marrow, orbital, & mediastinal fat deposition are normal.😊

 

Metabolic alteration: Ptns may have hyperinsulinemia but not so severe insulin resistance. DM prevalence (about 7 %) is much less than other types of lipodystrophy (> 50 %). Many ptns show the presence s. antinuclear & anti-double stranded DNA ABs.

 

Renal disease: Almost 20 % of ptns may develop MPGN (membranoproliferative GN), reported on about 8-10 ys after initial Dgx. Presence of kidney dysfunction related to MPGN is considered crucial factor in ptn survival.

 

Lipodystrophy associated with HIV therapy: Ptns with HIV infection who’re ttt with anti-retroviral therapy & particularly HIV-1 protease inhibitors, can develop lipodystrophy owing to these medications.