Zhou Yimeng, Zhang Lin, Ding Yang, Zhai Yongzhen
Department of Infectious Diseases, Shengjing Hospital of China Medical University, Shenyang, China.
Front Genet. 2024 Jul 24;15:1417613. doi: 10.3389/fgene.2024.1417613. eCollection 2024.
Family partial lipodystrophy (FPLD) is a rare autosomal dominant disease characterized by disorders of variable body fat loss associated with metabolic complications. FPLD6 has only been reported in a limited number of cases. Here, we reported a Chinese FPLD6 patient with compound heterozygous mutations in the lipase E, hormone-sensitive type () gene.
A 20-year-old female patient presented with hypertriglyceridemia, diabetes mellitus, hepatomegaly, and hepatic steatosis. Subcutaneous fat was significantly diminished in her face, abdomen, and limbs. The patient was assessed by detailed clinical and biochemical examinations. A liver biopsy showed severe lipodystrophy. In addition, there were retinal changes, peripheral nerve damage, and renal tubular injury. Sequencing was performed on extracted DNA. Genetic analysis revealed that the patient had compound heterozygous mutations in the gene: c.2497_250ldel (p.Glu833LysfsTer22) and c.2705del (p.Ser902ThrfsTer27) heterozygous mutations. Verification revealed that this mutation was inherited from her father and mother, respectively, and that they formed newly discovered compound heterozygous mutations occurring in the gene, causing FPLD6.
We reported the first case of FPLD6 in China. Gene analysis demonstrated compound heterozygous mutations in LIPE in this patient. Our case emphasizes the importance of genetic testing in young patients with severe metabolic syndromes.
家族性部分脂肪营养不良（FPLD）是一种罕见的常染色体显性疾病，其特征为身体脂肪丢失情况各异并伴有代谢并发症。FPLD6仅在少数病例中被报道过。在此，我们报告了一名中国FPLD6患者，其脂肪酶E（激素敏感型）基因存在复合杂合突变。
一名20岁女性患者出现高甘油三酯血症、糖尿病、肝肿大和肝脂肪变性。其面部、腹部和四肢的皮下脂肪明显减少。通过详细的临床和生化检查对该患者进行了评估。肝脏活检显示严重脂肪营养不良。此外，还存在视网膜病变、周围神经损伤和肾小管损伤。对提取的DNA进行了测序。基因分析显示该患者在该基因存在复合杂合突变：c.2497_250ldel（p.Glu833LysfsTer22）和c.2705del（p.Ser902ThrfsTer27）杂合突变。验证表明该突变分别遗传自其父亲和母亲，它们构成了该基因中新发现的复合杂合突变，导致了FPLD6。
我们报告了中国首例FPLD6病例。基因分析表明该患者的LIPE基因存在复合杂合突变。我们的病例强调了对患有严重代谢综合征的年轻患者进行基因检测的重要性。
