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

Autor: Xiaojuan Zhang, Yongyong Chen, Nanwei Tong, Qing Shao, Yueyang Zhou, Tong Mu, Xiaoling Yang, Yuwei Zhang
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Journal of Diabetes Investigation, Vol 13, Iss 2, Pp 397-401 (2022)
Druh dokumentu: article
ISSN: 2040-1124
2040-1116
DOI: 10.1111/jdi.13651
Popis: Abstract 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.
Databáze: Directory of Open Access Journals
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