open access

Vol 44, No 3 (2010)
OPIS PRZYPADKU
Submitted: 2010-01-18
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Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G > A (Arg482Gln) in a Polish family

Hanna Drac, Agnieszka Madej-Pilarczyk, Krystyna Gospodarczyk-Szot, Małgorzata Gaweł, Hubert Kwieciński, Irena Hausmanowa-Petrusewicz
DOI: 10.1016/S0028-3843(14)60044-X
·
Neurol Neurochir Pol 2010;44(3):291-296.

open access

Vol 44, No 3 (2010)
OPIS PRZYPADKU
Submitted: 2010-01-18

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.

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Keywords

familial partial lipodystrophy (FPLD), LMNA, lamin A/C, laminopathies

About this article
Title

Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 44, No 3 (2010)

Pages

291-296

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

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