Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report.
Umidakhon MahkmudovaP Christian SchulzeStefan LorkowskiWinfried MärzJ-A GeilingOliver WeingärtnerPublished in: Journal of medical case reports (2024)
Our case reports a rare yet potentially life-threatening condition-monogenic hypertriglyceridemia-induced acute pancreatitis. The implementation of the antisense drug volanesorsen resulted in improved triglyceride levels, alleviated symptoms, and enhanced the quality of life.