Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.
J Clin Endocrinol Metab. 2010 Sep;95(9):E58-63. doi: 10.1210/jc.2010-0488. Epub 2010 Jun 9.
Genetic lipodystrophies are rare disorders characterized by partial or complete loss of adipose tissue and predisposition to insulin resistance and its complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, acanthosis nigricans, and polycystic ovarian syndrome.
The objective of the study was to report a novel autosomal recessive lipodystrophy syndrome.
We report the detailed phenotype of two males and one female patient, 26-34 yr old, belonging to two pedigrees with an autosomal recessive syndrome presenting with childhood-onset lipodystrophy, muscle atrophy, severe joint contractures, erythematous skin lesions, and microcytic anemia. Other variable clinical features include hypergammaglobulinemia, hepatosplenomegaly, generalized seizures, and basal ganglia calcification. None of the patients had diabetes mellitus or acanthosis nigricans. Two had mild hypertriglyceridemia and all had low levels of high-density lipoprotein cholesterol. Skin biopsy of an erythematous nodular skin lesion from one of the patients revealed evidence of panniculitis. The lipodystrophy initially affected the upper body but later became generalized involving abdomen and lower extremities as well.
We conclude that these patients represent a novel autoinflammatory syndrome resulting in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy. The molecular genetic basis of this disorder remains to be elucidated.
遗传性脂肪营养不良是一种罕见的疾病，其特征为部分或完全的脂肪组织缺失，以及胰岛素抵抗和其并发症（如糖尿病、高甘油三酯血症、肝脂肪变性、黑棘皮病和多囊卵巢综合征）的易感性。
本研究旨在报告一种新的常染色体隐性脂肪营养不良综合征。
我们报告了两例男性和一例女性患者的详细表型，年龄为 26-34 岁，属于两个常染色体隐性遗传家族，表现为儿童期发病的脂肪营养不良、肌肉萎缩、严重的关节挛缩、红斑性皮损和小细胞性贫血。其他可变的临床特征包括高丙种球蛋白血症、肝脾肿大、全身性癫痫发作和基底节钙化。这些患者均无糖尿病或黑棘皮病。其中两人有轻度高甘油三酯血症，所有人的高密度脂蛋白胆固醇水平均较低。一名患者的红斑性结节性皮肤损伤的皮肤活检显示存在脂膜炎的证据。脂肪营养不良最初影响上半身，但后来发展为全身性，累及腹部和下肢。
我们得出结论，这些患者代表一种新的自身炎症综合征，导致关节挛缩、肌肉萎缩、小细胞性贫血和脂膜炎引起的脂肪营养不良。这种疾病的分子遗传学基础仍有待阐明。
