Fatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in Lipodystrophies

Abstract

<b><i>Introduction:</i></b> Lipodystrophies are a heterogeneous group of rare diseases (genetic or acquired) characterized by a partial or generalized deficit of adipose tissue, resulting in less energy storage capacity. They are associated with severe endocrine-metabolic complications with significant morbidity and mortality. In the pathogenesis of the acquired forms, immunological disorders may be involved. <b><i>Case 1:</i></b> A 13-year-old female was diagnosed with acquired generalized lipodystrophy and observed for suspicion of portal hypertension. She presented with generalized absence of adipose tissue, cervical and axillary acanthosis nigricans, and massive hepatosplenomegaly. Laboratory tests revealed AST 116 IU/L, ALT 238 IU/L, GGT 114 IU/L, HOMA-IR 28.2, triglycerides 491 mg/L, and leptin < 0.05 ng/mL. Upper gastrointestinal endoscopy saw no signs of portal hypertension. Hepatic histology showed macrovesicular fatty infiltration (60% of hepatocytes) and advanced fibrosis/cirrhosis. Her clinical condition worsened progressively to diabetes requiring treatment with subcutaneous insulin and hepatopulmonary syndrome. <b><i>Case 2:</i></b> A 15-year-old female, diagnosed with acquired partial lipodystrophy, Parkinson syndrome, autoimmune thyroiditis, and autoimmune thrombocytopenia was observed for hypertransaminasemia since the age of 8 years. She had absence of subcutaneous adipose tissue in the upper and lower limbs and ataxia. Laboratory tests showed AST 461 IU/L, ALT 921 IU/L, GGT 145 IU/L, HOMA-IR 32.6, triglycerides 298 mg/dL, normal leptin levels, platelets 84,000/μL, IgG 1,894 mg/dL, positive anti-LKM and anti-LC-1. Hepatic histology was suggestive of autoimmune hepatitis, without steatosis. She progressed favorably under metformin and immunosuppressive treatment. <b><i>Conclusion:</i></b> Early recognition and adequate characterization of liver disease in lipodystrophies is essential for a correct treatment approach. In acquired generalized lipodystrophy, the severe endocrine-metabolic disorder, which leads to steatohepatitis with cirrhotic progression, may benefit from recombinant leptin treatment.

Multifocal lipoatrophy secondary to insulin injection in a patient with type 2 diabetes, hepatitis B virus infection, and liver cirrhosis

“…2,6,7 Furthermore, liver diseases, including virus hepatitis, liver cirrhosis, and fatty liver, can also be associated with partial or generalized acquired lipoatrophy. [8][9][10][11] In the patient reported herein, we do not know whether the pathogenesis of the lipoatrophy was related to the HBV infection or liver cirrhosis. To determine this, further clinical characterization and laboratory work will be required.…”

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

“…In case of hepatomegaly, hepatic biological anomaly, diagnosis of steatosis and/or suspicion of cirrhosis, alcohol consumption should be prohibited. The etiological work-up will be completed by HCV and HBV serologies, measurement of ceruloplasmin, ferritin, anti-smooth muscle, anti-nucleus, anti-LKM, anti-mitochondria, and anti-transglutaminase IgA autoantibodies, and TSH, and elastometry [ 29 ].…”