Background: Lipodystrophies are a group of rare disorders characterized by varying degrees of body fat loss. The metabolic abnormalities associated with lipodystrophy include insulin resistance, often leading to diabetes mellitus, hypertriglyceridemia that may be severe enough to cause acute pancreatitis and hepatic steatosis that may lead to cirrhosis.
They can be either genetic or acquired, generalized or partial. Acquired generalized lipodystrophy (AGL) is more common in females, usually appears before adolescence, is characterized by progressive loss of fat affecting the whole body but some fat accumulation can appear in the face, neck, axilla. Metabolic complications are frequent. AGL is often associated with autoimmune diseases.
Objectives: We report a case of a 14-year old female presenting with very low body-fat tissue, with increased muscle tissue at the trunk, upper and lower extremities. The adipose tissue is present in the face and the neck, causing a buffalo-hump" appearance. She also presented acanthosis nigricans at bilateral axillary level and posterior region of the neck. The patient had normal fat distribution during childhood, followed by onset of pregressive fat loss around late childhood.
Method: Laboratory findings showed a very low level of leptin (Leptin=2.8ng/ml, N:>12ng/ml), hyperinsulinism (Insulin=65.3uUI/ml, N: 6-27uUI/ml). Blood glucose levels, triglycerides and liver enzymes were within normal levels at presentation. The patient also presented with thyrotoxicosis with elevated TRab
Results: Given the clinical appearance of the patient, the very low level of leptin and the association with Graves Disease, the diagnosis of acquired generalized lipodystrophy is the most likely. For the hyperthyroidism the patient was started on antithyroid agent (30 mg Thyamasole) and Metformin was started for her progressing hyperinsulinism. Consequently to normalization of her thyroid function, cholesterol and triglycerides values started to increase. One year after starting antithyroid medication and 3 months after starting metformin she presented increased liver enzimes and was evaluated for autoimmune/infectios hepatitis and non-alcoholic fatty liver disease, but none was confirmed.
Also, given the very low level of leptin, the patient can be a good candidate for treatment with metreleptin.
Conclusion: We present the case of a young female with AGL with late childhood onset of disease, typical clinical presentation of fat loss, very low leptin levels and insulin resistance from a young age, while also associating Graves' disease.
The association of Graves' hyperthyroidism and its therapy with AGL influences the evolution of AGL metabolic consequences and comorbidities.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology