Endocrine Abstracts

Introduction: Lipodystrophic syndromes are rare and heterogeneous disorders characterized by the complete or partial deficiency of adipose tissue. They can be classified according to the extent of fat loss in generalized or partial subtypes and genetic or acquired based on the pathogenic mechanisms.

Case report: A 37-year-old man was referred to our department with a history of nonalcoholic steatohepatitis associated with high levels of triglycerides (720 mg/dl) and structural alterations of anterior cervical region on computed tomography scan: right thyroid lobe irregular hypoechoic nodules with micro-calcifications and increased vascularity and multiple superior mediastinal and right sided cervical lymph nodes with necrosis and calcifications. On physical examination, the patient had a body mass index of 31.71 kg/m2 with a clear pattern of fat loss in the extremities (especially lower limbs), with truncal obesity and a slightly increased fat in the face and neck and acanthosis nigricans in the posterior cervical region. When questioned, the patient reported these physical changes for about 6 months with an unremarkable family history. Laboratory tests showed the following results: fasting serum glucose 80 mg/dl with HbA1c 4.9%, total cholesterol 151 mg/dl, high-density lipoprotein cholesterol 59 mg/dl, low-density lipoprotein cholesterol 81 mg/dl, triglycerides 70 mg/dl, normal alanine aminotransferase and aspartate aminotransferase, but with high gamma-glutamyl transferase 216 U/l and normal hormonal profile. HOMA-IR was 3 suggestive for insulin resistance. Thyroid ultrasound showed similar features like CT scan. Truncal subcutaneous adipose tissue with minimal edema was observed on ultrasound imaging alongside with pericardial and perivascular fat on echocardiography. A whole-body dual energy x-ray absorptiometry scan showed a fat mass index of 10.02 kg/m2 (class one obesity), with slightly elevated Trunk %fat-to-Legs %fat ratio of 1.2 and an increased Arms %fat-to-legs %fat ratio of 1.52, indicating an increased truncal and arms fat mass redistribution. The patient will be directed to the surgical department for total thyroidectomy.

Discussions: A clinical diagnosis of FPLD type 1 was made by the described findings. Although it appears that this syndrome is familial, it may also occur spontaneously and only a few affected women have been reported until now. The genetic defect associated with Köbberling-type lipodystrophy is currently unknown, but latest research suggest that this form of lipodystrophy may have a polygenic etiology. Further management includes close monitoring and multidisciplinary approach regarding metabolic complications associated with this disorder.