Coronary arterial calcification in patients with congenital generalised lipodystrophy: A case series

Abstract

Congenital generalised lipodystrophy (CGL), or Berardinelli-Seip syndrome, is an autosomal recessive disorder first identified in Brazil in 1954. 1 It is characterised by a loss of subcutaneous adipose tissue and marked insulin resistance, with consequences including diabetes, hypertriglyceridemia, hepatic steatosis, polycystic ovary syndrome, acanthosis nigricans, and arterial hypertension. 2 Early myocardial revascularization and cases of multivessel coronary disease leading to acute myocardial infarction in a young patient (29 years) have been described. 3 We have previously described infections, liver complications, and cardiovascular disease (CVD) as causes of death in CGL patients. 4 Deaths from CVD have been reported in patients between 20 and 62 years of age, and necropsy studies have reported stiffness of intramural coronary arteries with intimal fibrosis and subendocardial collagen deposition. [4][5][6] As CGL is a rare disease, with a prevalence of 1:1,000,000, and considering patients' deaths occur precociously due to infectious, hepatic, or renal causes, 4 it is difficult