Post-mortem findings in familial partial lipodystrophy, Dunnigan variety
Post-mortem findings in familial partial lipodystrophy, Dunnigan variety
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DOI：
10.1046/j.1464-5491.2002.00796.x
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发表时间：
2002-12-01
影响因子：
3.5
通讯作者：
Garg, A
中科院分区：
文献类型：
--
作者：
Haque, WA;Vuitch, F;Garg, A
家族性部分脂肪营养不良症（Familial partial lipodystrophy, Dunnigan variety， FPLD）是一种常染色体显性遗传病，由纤层蛋白A/C基因错义突变引起，其特征是四肢和躯干皮下脂肪逐渐减少，头部、颈部和腹腔内脂肪堆积，胰岛素抵抗及其代谢并发症。我们研究了两例FPLD患者的尸检结果，以确定脂肪分布和器官受累情况。结果患者1,66岁女性，R482Q基因突变，合并糖尿病、血脂异常、冠心病，猝死。尸检证实了典型的体脂分布，并进一步发现胸下区域、腋窝淋巴结和腹膜后过量脂肪沉积。动脉粥样硬化性血管疾病包括心肌、颞叶和肾脏的陈旧性梗死。胰岛出现严重的淀粉样变，股四头肌和膈肌成组萎缩。患者2，一名29岁女性，属于R62G突变谱系，死于高脂血症引起的急性胰腺炎。患者2尸检发现广泛的胰腺炎，肝脂肪变性和多囊卵巢。结论我们的研究证实了典型的身体脂肪分布，并描述了多余脂肪沉积的新部位。我们的数据显示了动脉粥样硬化和多囊卵巢的易感性，并提示胰腺淀粉样变可能是FPLD患者高血糖发展的基础。
Aims Familial partial lipodystrophy, Dunnigan variety (FPLD), is an autosomal dominant disorder due to missense mutations in the lamin A/C gene and is characterized by gradual loss of subcutaneous fat from the extremities and trunk, fat accumulation in the head, neck and intra-abdominal areas, insulin resistance and its metabolic complications. We studied autopsy findings in two patients with FPLD to determine fat distribution and organ involvement.Results Patient 1, a 66-year-old woman with the R482Q mutation, had diabetes mellitus, dyslipidaemia, and coronary artery disease and died suddenly. Autopsy confirmed the typical body fat distribution and further revealed excess fat deposition in the subpectoral regions extending to the axillae, in the axillary lymph nodes and in the retroperitoneum. Atherosclerotic vascular disease including old infarcts of the myocardium, temporal lobe and kidneys were noted. Severe amyloidosis of the pancreatic islets and grouped muscle atrophy of the quadriceps and diaphragmatic muscles were present. Patient 2, a 29-year-old woman belonging to a pedigree with the R62G mutation, died of hyperlipidaemia-induced acute pancreatitis. Autopsy of patient 2 revealed extensive pancreatitis, hepatic steatosis and polycystic ovaries.Conclusions Our study confirms typical body fat distribution and describes new sites of excess fat deposition. Our data show predisposition to atherosclerosis and polycystic ovaries and suggest that pancreatic amyloidosis may underlie development of hyperglycaemia in FPLD patients.