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

Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain

“…Thus, in our cohort, ischemic cardiopathy was present in 15.4% of cases with partial lipodystrophy and in none with generalised lipodystrophy. In this sense, although it is necessary to take into account the influence of the younger age of the generalised lipodystrophy group, a recent study conducted in 19 subjects with CGL types 1 and 2 quantifying coronary arterial calcification found that despite also evaluating a young CGL population, a quarter of them already presented an altered coronary calcium score, suggesting a potential increase in cardiovascular risk ( 33 ). On the other hand, while there are only a few anecdotal reports of ASCVD among CGL, AGL and APL patients, there is more substantial literature on ASCVD among patients with FPLD ( 26 , 34 , 35 ).…”