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Hepatic steatosis in Dunnigan-type familial partial lipodystrophy.
Am J Gastroenterol. 2005 Oct; 100(10):2218-24.AJ

Abstract

OBJECTIVES

Characterization of familial clusters of subjects with metabolic derangements predisposing to hepatic steatosis and nonalcoholic steatohepatitis could facilitate genomic studies to identify risk factors for their development. Dunnigan-type familial partial lipodystrophy (FPLD) is an autosomal dominantly inherited disorder caused by mutations in the LMNA gene. Affected subjects have loss of subcutaneous fat from the extremities and symptoms similar to those characterizing the metabolic syndrome, including insulin resistance and dyslipidemia. The goal of this study was to determine the prevalence of steatosis in subjects with FPLD.

METHODS

We examined 18 subjects from six families with FPLD for mutations in LMNA and analyzed plasma lipid and serum glucose concentrations. Liver ultrasound and serum aminotransferase activities were used as indicators of steatosis or steatohepatitis. In two subjects, histological examination of hepatic tissue was performed.

RESULTS

All subjects had FPLD-causing mutations in LMNA. Plasma lipids were measured in 17 subjects, 16 of whom had hyperlipidemia and 14 presented with either documented insulin resistance or diabetes mellitus. Hepatic steatosis was present in 15 subjects who had ultrasound examinations and 9 of these had elevated serum aminotransferase activities. Liver biopsy confirmed steatosis in 2 subjects.

CONCLUSIONS

Hepatic steatosis is part of the clinical phenotype of FPLD. This familial disorder may provide a human metabolic model system to facilitate genomic and environmental studies to determine risk factors for hepatic steatosis and nonalcoholic steatohepatitis.

Authors+Show Affiliations

Department of Gastroenterology, Hepatology & Endocrinology, Charité, Campus Mitte, Humboldt University, Berlin, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

16181372

Citation

Lüdtke, Angelika, et al. "Hepatic Steatosis in Dunnigan-type Familial Partial Lipodystrophy." The American Journal of Gastroenterology, vol. 100, no. 10, 2005, pp. 2218-24.
Lüdtke A, Genschel J, Brabant G, et al. Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. Am J Gastroenterol. 2005;100(10):2218-24.
Lüdtke, A., Genschel, J., Brabant, G., Bauditz, J., Taupitz, M., Koch, M., Wermke, W., Worman, H. J., & Schmidt, H. H. (2005). Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. The American Journal of Gastroenterology, 100(10), 2218-24.
Lüdtke A, et al. Hepatic Steatosis in Dunnigan-type Familial Partial Lipodystrophy. Am J Gastroenterol. 2005;100(10):2218-24. PubMed PMID: 16181372.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. AU - Lüdtke,Angelika, AU - Genschel,Janine, AU - Brabant,Georg, AU - Bauditz,Jürgen, AU - Taupitz,Matthias, AU - Koch,Martin, AU - Wermke,Wolfram, AU - Worman,Howard J, AU - Schmidt,Hartmut H-J, PY - 2005/9/27/pubmed PY - 2005/11/11/medline PY - 2005/9/27/entrez SP - 2218 EP - 24 JF - The American journal of gastroenterology JO - Am J Gastroenterol VL - 100 IS - 10 N2 - OBJECTIVES: Characterization of familial clusters of subjects with metabolic derangements predisposing to hepatic steatosis and nonalcoholic steatohepatitis could facilitate genomic studies to identify risk factors for their development. Dunnigan-type familial partial lipodystrophy (FPLD) is an autosomal dominantly inherited disorder caused by mutations in the LMNA gene. Affected subjects have loss of subcutaneous fat from the extremities and symptoms similar to those characterizing the metabolic syndrome, including insulin resistance and dyslipidemia. The goal of this study was to determine the prevalence of steatosis in subjects with FPLD. METHODS: We examined 18 subjects from six families with FPLD for mutations in LMNA and analyzed plasma lipid and serum glucose concentrations. Liver ultrasound and serum aminotransferase activities were used as indicators of steatosis or steatohepatitis. In two subjects, histological examination of hepatic tissue was performed. RESULTS: All subjects had FPLD-causing mutations in LMNA. Plasma lipids were measured in 17 subjects, 16 of whom had hyperlipidemia and 14 presented with either documented insulin resistance or diabetes mellitus. Hepatic steatosis was present in 15 subjects who had ultrasound examinations and 9 of these had elevated serum aminotransferase activities. Liver biopsy confirmed steatosis in 2 subjects. CONCLUSIONS: Hepatic steatosis is part of the clinical phenotype of FPLD. This familial disorder may provide a human metabolic model system to facilitate genomic and environmental studies to determine risk factors for hepatic steatosis and nonalcoholic steatohepatitis. SN - 0002-9270 UR - https://www.unboundmedicine.com/medline/citation/16181372/Hepatic_steatosis_in_Dunnigan_type_familial_partial_lipodystrophy_ L2 - https://doi.org/10.1111/j.1572-0241.2005.00234.x DB - PRIME DP - Unbound Medicine ER -