Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw.
Neurol Neurochir Pol. 2010 May-Jun;44(3):291-6. doi: 10.1016/s0028-3843(14)60044-x.
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.
家族性部分脂肪营养不良（FPLD）属于层粘连蛋白病家族 - 与 lamin A/C 基因突变相关的疾病（LMNA）。FPLD 的特征是四肢、躯干和臀部的皮下脂肪组织丧失，同时在面部、颈部和腹腔内区域堆积，并伴有代谢紊乱。我们首次报道了经基因证实的波兰 FPLD 家族。一位 34 岁的女性因肌肉痛和库欣样外观就诊，检查发现她有圆脸、双下巴、颈部肿块和四肢脂肪丧失。诊断测试显示葡萄糖耐量受损和肝酶水平升高，超声检查显示肝脂肪变性。她 9 岁的女儿表现出类似的表型，但没有脂肪丧失。基因检测显示存在杂合性 LMNA 基因突变：c.1445G>A，与 FPLD 的“热点”一致。用二甲双胍治疗以改善胰岛素抵抗和治疗糖尿病取得了成功。
