LAUSR

Köbberling syndrome is a familiar partial lipodystrophy in which fat is accumulated mostly in the trunk, the neck, and the face, whilst it’s absent in the lower extremities, feigning a muscular hypertrophy, frequently with a palpable ledge between the normal and lipodystrophic areas [1] The lack of adipose tissue leads to a difficult storage of lipids in the adipocytes, causing lipotoxicity, hepatic steatosis, myocardial and muscular fatty infarction [2]. This condition generates severe insulin resistance, that can cause acanthosis nigricans, hypertriglyceridemia, polycystic ovary syndrome (PCOS) and type 2 diabetes (T2D) [3]. The evaluation of the skinfold ratios is highly suggestive. The main target of the treatment is to keep glycemia and lipid levels in the normal range, with lifestyle changes and medical treatment [3]. It is quite interesting that Köbberling syndrome has clinical and biochemical aspects that resembles other insulin resistance conditions that are very common in clinical practice such as obesity and PCOS. This was the case of a 40-year-old woman with PCOS (BMI 30.1 kg/m2, WHR 0.94) referred to our Department for a tendency to store fat in the central part of the body since her childhood, whilst it was poorly represented in the inferior limbs. No dietetic measures were effective. She presented T2D well compensated with metformin 1000 mg (twice a day), hyperuricemia, mixed dyslipidemia, and arterial hypertension in treatment with nifedipine 30 mg/day. She stopped the administration of fibrates because of myalgia, and later, she started taking liraglutide because of obesity, losing 6 kg in 3 months. The patient presented the following clinical features: acanthosis nigricans, Cushingoid-like moon face, “Buffalohump”. Striae rubrae were absent. Skinfold measurements were the following: abdomen 39 mm, iliac spine 25 mm, triceps 12 mm, biceps 11 mm, thigh 14 mm, calf 4 mm, subscapular 23 mm. Köbberling Index (KöB) (Subscapular/Calf Skinfolds) was 5.74 (normal values: < 3.477). Biochemistry routine test, as well as thyroid (including ultrasound evaluation), gonadic and adrenal functions were in the normal range. Antibodies (organ-specific and not), PPARγ and LMNA genes variants were negative. Leptin (19.2 mcg/L) and adiponectin (1.4 mcg/mL) were lower than expected, due to the lack of adipose tissue. DEXA body fat percentages were the following: total 39.2%, left arm 37.3%, right arm 35.5%, trunk 46.9%, left leg 30% and right leg 26.7%. Truncal/legs fat mass ratio in: