Familial partial lipodystrophy type 3 complicated with recurrent pancreatitis: clinical analysis and literature review

Abstract

Objective To analyze the clinical features of familial partial lipodystrophy type 3 (FPLD3) with recurrent pancreatitis and its relationship with peroxisome proliferator-activated receptor gamma (PPARG) gene mutation. Methods A retrospective analysis of the clinical features of a 7 years and 5 months old child with FPLD3 (first admission) complicated with recurrent pancreatitis was conducted. Peripheral blood samples from the child and parents were collected and high-energy sequencing technology was used to screen genes related to lipid metabolism and glucose metabolism diseases. PPARG gene mutation detection was performed. Literatures were searched to analyze the clinical features and PPARG gene mutation sites of FPLD3 with recurrent pancreatitis. Results In this case, the patient was admitted to the hospital because of bilateral elbow, knee joint extension and hip miliary lipoma in recent month. The laboratory indicators indicated that the triacylglycerol was increased to 26 mmol/L, and pancreatitis appeared repeatedly three times. Genetic sequencing showed that there was a heterozygous mutation c. 70G>A (p.24, amino acid V>I) in the third exon of PPARG gene, and the child was diagnosed as FPLD3. There were no reports of FPLD3 children in China. There were 2 cases of FPLD3 reported abroad. All cases were girls, and the main clinical manifestations include fat atrophy of the extremities and glutes and increased fat storage in the face, neck and trunk. One had a PPARG nonsense mutation (p.355, Y>X), and the other had a PPARG missense mutation, c.1 270G>A(E5) (p.424, D>N). Conclusions FPLD3 associated gene PPARG missense mutation c. 70G>A(E3)(p.24, V>I) was harmful. This case with FPLD3 combined with recurrent pancreatitis was the first reported in China so far. Key words: Familial partial lipodystrophy type 3; Hyperlipidemias; Pancreatitis; Chromosome aberrations; Child, preschool