Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by lipoatrophy affecting the face, limbs and trunk, acromegaloid features, hepatomegaly, hypertriglyceridemia, and insulin resistance. The aim of this study is to evaluate the long-term follow-up findings including gastrointestinal and cardiac manifestations of the patients with CGL1 and CGL4, caused by mutations in the AGPAT2 and CAVIN1 genes, respectively. Two patients aged 2 and 9 years with the same biallelic CAVIN1 mutation and five patients aged between 6 months and 11 years 4 months with AGPAT2 mutations have been followed up for 3–9 years. The patients were between 7 and 20 years of age at their last examination. One of the two patients with CGL4 had congenital pyloric stenosis. The other patient with CGL4 have developed recurrent duodenal perforations which have not been reported in CGL patients previously. The pathological examination of duodenal specimens revealed increased subserosal fibrous tissue and absent submucosal adipose tissue. None of the five CGL1 patients had gastrointestinal problems. Two patients with CGL4 developed hypertrophic cardiomyopathy (HCMP) and severe cardiac arrhythmia, only one patient with CGL1 had HCMP. Hyperinsulinemia was detected in one patient with CGL4 and three patients with CGL1, these three CGL1 patients also had acanthosis nigricans. Hepatic steatosis was detected in one patient with CGL4 and two patients with CGL1 by ultrasonography. In conclusion, these findings suggest that CGL4 patients should also be carefully followed up for gastrointestinal and cardiac manifestations.

先天性全身性脂肪营养不良（CGL）是一种罕见的疾病，其特征是脂肪营养不良影响面部，四肢和躯干，肢端肥大症，肝肿大，高甘油三酯血症和胰岛素抵抗。这项研究的目的是评估长期随访结果，包括分别由AGPAT2和CAVIN1基因突变引起的CGL1和CGL4患者的胃肠道和心脏表现。2名2岁和9岁的患者具有相同的双等位基因CAVIN1突变，5名年龄在6个月至11岁4个月之间的患者使用AGPAT2突变已随访3–9年。患者在最后一次检查时年龄在7至20岁之间。CGL4的两名患者之一患有先天性幽门狭窄。另一位CGL4患者出现了十二指肠复发穿孔，以前在CGL患者中未见报道。十二指肠标本的病理检查显示，浆膜下纤维组织增加而粘膜下脂肪组织缺失。5名CGL1患者均未出现胃肠道问题。2名CGL4患者发展为肥厚型心肌病（HCMP）和严重心律不齐，只有1名CGL1患者患有HCMP。在一名CGL4患者和三名CGL1患者中检测到高胰岛素血症，这三名CGL1患者也患有黑棘皮病。超声检查发现1例CGL4患者和2例CGL1患者有肝脂肪变性。总之，这些发现表明，对于胃肠道和心脏表现，也应仔细随访CGL4患者。