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Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G > A (Arg482Gln) in a Polish family
Affiliations- Clinical Department of Neurology, Voivodeship Hospital in Olsztyn
- Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw
open access
Abstract
Familial partial lipodystrophy (FPLD) belongs to the family of laminopathies – disorders associated with mutation in the lamin A/C gene (LMNA). FPLD is characterized by loss of subcutaneous adipose tissue from the limbs, trunk and buttocks, with its concomitant accumulation on the face, neck and intra-abdominal region, and by metabolic disorders.
We present the first Polish family with FPLD confirmed genetically. A 34-year-old woman admitted with myalgia and cushingoid appearance was found to have a round face with double chin, neck bump, and loss of fat on extremities. Diagnostic tests revealed impaired glucose tolerance and increased levels of liver enzymes, and ultrasonography revealed hepatic steatosis. Her 9-year-old daughter presented a similar phenotype, but no fat loss. A genetic test revealed the presence of a heterozygous LMNA gene mutation: c.1445G>A, consistent with the “hot spot” for FPLD. Treatment with metformin to improve insulin resistance and address the diabetes proved successful.
Abstract
Familial partial lipodystrophy (FPLD) belongs to the family of laminopathies – disorders associated with mutation in the lamin A/C gene (LMNA). FPLD is characterized by loss of subcutaneous adipose tissue from the limbs, trunk and buttocks, with its concomitant accumulation on the face, neck and intra-abdominal region, and by metabolic disorders.
We present the first Polish family with FPLD confirmed genetically. A 34-year-old woman admitted with myalgia and cushingoid appearance was found to have a round face with double chin, neck bump, and loss of fat on extremities. Diagnostic tests revealed impaired glucose tolerance and increased levels of liver enzymes, and ultrasonography revealed hepatic steatosis. Her 9-year-old daughter presented a similar phenotype, but no fat loss. A genetic test revealed the presence of a heterozygous LMNA gene mutation: c.1445G>A, consistent with the “hot spot” for FPLD. Treatment with metformin to improve insulin resistance and address the diabetes proved successful.
Keywords
familial partial lipodystrophy (FPLD), LMNA, lamin A/C, laminopathies
About this articleTitle
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
291-296
Page views
235
Article views/downloads
751
DOI
10.1016/S0028-3843(14)60044-X
Bibliographic record
Neurol Neurochir Pol 2010;44(3):291-296.
Keywords
familial partial lipodystrophy (FPLD)
LMNA
lamin A/C
laminopathies
Authors
Hanna Drac
Agnieszka Madej-Pilarczyk
Krystyna Gospodarczyk-Szot
Małgorzata Gaweł
Hubert Kwieciński
Irena Hausmanowa-Petrusewicz
