Maternally inherited diabetes and deafness coexists with lipoprotein lipase gene mutation‐associated severe hyperlipidemia that was resistant to fenofibrate and atorvastatin, but sensitive to bezafibrate: A case report

• Published in: Journal of diabetes investigation Vol. 13; no. 2; pp. 397 - 401
• Main Authors: Zhang, Xiaojuan, Chen, Yongyong, Tong, Nanwei, Shao, Qing, Zhou, Yueyang, Mu, Tong, Yang, Xiaoling, Zhang, Yuwei
• Format: Journal Article
• Language: English
• Published: Japan John Wiley & Sons, Inc 01.02.2022; John Wiley and Sons Inc; Wiley
• Subjects: Antibodies; Atorvastatin; Atorvastatin - therapeutic use; Bezafibrate; Bezafibrate - therapeutic use; Body mass index; Case Report; Case Reports; Consent; Deafness; Diabetes; Diabetes mellitus; Diabetes Mellitus, Type 2 - complications; Diabetes Mellitus, Type 2 - drug therapy; Diabetes Mellitus, Type 2 - genetics; Disease; Female; Fenofibrate; Fenofibrate - therapeutic use; Gene expression; Genetic disorders; Genetic screening; Glucose; Humans; Hyperlipidemia; Hyperlipidemias - complications; Hyperlipidemias - drug therapy; Hyperlipidemias - genetics; Hypertriglyceridemia; Insulin; Lipase; Lipids; Lipoprotein lipase; Lipoprotein Lipase - genetics; Lipoproteins; Maternally inherited diabetes and deafness; Metabolism; Mitochondria; Mitochondrial Diseases; Mutation; Peptides; Point mutation; Hypertriglyceridemia; Maternally inherited diabetes and deafness; Lipoprotein lipase
• ISSN: 2040-1116; 2040-1124; 2040-1124
• DOI: 10.1111/jdi.13651

Maternally inherited diabetes and deafness is a rare genetic disease mainly caused by a point mutation in mitochondrial deoxyribonucleic acid. Lipoprotein lipase gene mutations are associated with familial dyslipidemias, which are difficult to manage. We reported for the first time a case that had both maternally inherited diabetes and severe hyperlipidemia caused by lipoprotein lipase gene mutation (C.347(exon3)G>C) that was resistant to fenofibrate and atorvastatin. We were able to manage the patient’s hyperlipidemia with bezafibrate, and her diabetes was well controlled with insulin. In conclusion, genetic testing is helpful in identifying rare and interesting cases when clinicians suspect inheritable diseases. Additionally, when one fibrate drug is ineffective in treating hyperlipidemia, it might be worthwhile trying another fibrate. The pedigree chart of the patient’s family. The arrow denotes proband (the patient) who has a point mutation in the lipoprotein lipase gene (heterozygous, C.347(exon3)G>C) and a point mutation in mitochondrial deoxyribonucleic acid (tRNA3243A>G).