A Case of Acquired Generalized Lipodystrophy with Cerebellar Degeneration and Type 2 Diabetes Mellitus

Abstract

■ AbstractAcquired generalized lipodystrophy (AGL) is a rare disorder of adipose tissue characterized by loss of fat from large regions of the body, occurring after birth. Its etiology remains unknown. Most AGL patients have had fasting and/or postprandial hyperinsulinemia, diabetes mellitus, hypertriglyceridemia, and fatty liver. We describe the case of a 30-year-old woman with a progressively unsteady gait and a generalized loss of body fat beginning at the age of 7. Cerebellar degeneration was revealed by imaging study, and the patient was eventually bedridden at the age of 15, due to progressive ataxia. She developed diabetes at the age of 25 without the presence of any evidence of ketoacidosis. The glutamic acid decarboxylase antibody was negative, Cpeptide level 3.6 ng/ml, HbA1c 13%, triglyceride 412 mg/dl, total cholesterol 196 mg/dl, high-density lipoproteincholesterol 28 mg/dl, adiponectin 0.76 µg/ml, and resistin was 22.8 ng/ml at the initial state of diabetes. AGL accompanied by type 2 diabetes and cerebellar degeneration was diagnosed on the basis of the clinical features and metabolic derangements.

The Mevalonate Pathway Is Indispensable for Adipocyte Survival

“…In contrast, in the case of patients with familial partial lipodystrophy, thiazolidinedione (TZD) treatment improved not only diabetic symptoms but also liver disorders such as steatosis and fibrosis ( Brown et al., 2016 ). It is possible that the improved liver function with TZD treatment is due to TZD-induced adipocyte differentiation and proliferation, which helps to reverse the excess hepatic lipid storage associated with insufficient adipose tissue mass ( Chao et al., 2004 ). Combined with these results, our findings suggest that without adequate functional adipose tissue, the liver in aKO mice may constitute the primary and major target organ of TZD action, which is related to systemic glucose and lipid metabolism.…”

Acquired Generalized Lipodystrophy Associated with Autoimmune Hepatitis and Low Serum C4 Level

“…Severe hemolytic anemia, autoimmune thyroid disease, and polyneuropathy may be present. Although rare, neurological problems have been reported ( 16 ). Although nonalcoholic fatty liver is seen in all patients with generalized lipodystrophy, in some patients, fatty liver has been reported to occur before lipodystrophy is evident ( 17 ).…”