Barraquer–Simons syndrome: A case report

A 23-year-old Bangladeshi female, the second offspring of healthy, non-related parents, was referred to the endocrinology department for facial fat loss. She had oligomenorrhea since the onset of her menarche. At puberty, she noticed a gradual decline in her facial adipose tissue. Apart from viral illness in her teen years, she had no significant family or drug history. On physical examination, she had large zygomatic arches and disappearance of buccal fat pads (Figure 1). She had mild hirsutism, mild acanthosis nigricans, and umbilical hernia. Her waist and hip circumference were 69 and 90 cm, respectively. There were no features of autoimmune disorders, clitoromegaly or hepato-splenomegaly. Her routine blood, urine tests, and hormonal profiles were within normal limits. Her antinuclear antibody was also negative. She had dyslipidemia in the form of low high-density lipoprotein cholesterol (40 mg/dL), high low-density lipoprotein cholesterol (230 mg/dL), and a marginally elevated triglyceride level (351 mg/dL). Her complement C3 level was low at 0.767 g/L (reference ranges 0.9-1.8 g/L). Although her glycemic profiles were within normal limits, she had elevated fasting insulin level of 35.36 micro U/mL (reference values: 3.21-16.32 micro U/mL) and an elevated homeostatic model assessment for insulin resistance of 6.37 (reference ranges: <1.9). Fat mass was measured using a dual-energy X-ray absorptiometry scan. She was treated with pioglitazone to improve the distribution of fat in her body. Rosuvastatin was started to treat her dyslipidemia. She was also counseled about diet, exercise, and lifestyle changes.

BSS has a female preponderance, with a median age of presentation at 25 years [4]. This disease is believed to have originated from unknown causes, but it exhibits implications of viral illnesses, such as chickenpox and measles, as well as autoimmune associations with systemic lupus erythematosus (SLE), vasculitis, and other conditions. Although 80% of cases are associated with autoimmune diseases, most cases can develop them many years after the initial diagnosis of lipodystrophy (systemic lupus erythematosus, 4–37 years; vasculitis, 17–28 years) [4]. BSS is atypical from other lipodystrophies. Although the predominant abnormality is hypertriglyceridemia, hypercholesterolemia can be present in a minority of cases [4].

The diagnosis of BSS was made using the recognised standards of Mishra et al., in which the hallmark feature is the loss of fat from the face and chest, accompanied by the deposition of excess fat in the hips, thighs, and legs. These physical findings can be confirmed by the imaging results of a dual-energy X-ray absorptiometry scan, which is considered the gold standard for measuring body fat [4]. Evidence of insulin resistance and hypocomplementemia enhances further confirmation. Most authors suggested a finding of low complement in the cases of BSS [4, 5].  

In cases of BSS, patients mainly raise concern about their facial appearance. This finding is absent in cases of facial puffiness due to chronic kidney disease as there is an association with membranoproliferative glomerulonephritis [4]. However, only 22% of cases developed it after a median of 8 years following the onset of lipodystrophy [4].