Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency
Makaleler > Tam Makale · 2024
Yazarlar: Merve YOLDAŞ ÇELİK, Ebru Canda, Havva YAZICI, Fehime Erdem, Ayse Yuksel Yanbolu, Yasemin Hande ATİK ALTINOK, Erhan PARILTAY, Haluk AKIN, Sema KALKAN UÇAR, Mahmut ÇOKER
NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2024, cilt 34, ss 1798-1806
DOI: 10.1016/j.numecd.2024.02.006
Özet
Background and aim: APO CII, one of several cofactors which regulate lipoprotein lipase enzyme activity, plays an essential role in lipid metabolism. Deficiency of APO CII is an ultra-rare autosomal recessive cause of familial chylomicronemia syndrome. We present the long-term clinical outcomes of 12 children with APO CII deficiency. Methods and results: The data of children with genetically confirmed APO CII deficiency were evaluated retrospectively. Twelve children (8 females) with a mean follow-up of 10.1 years (±3.9) were included. At diagnosis, the median age was 60 days (13 days-10 years). Initial clinical findings included lipemic serum (41.6%), abdominal pain (41.6%), and vomiting (16.6%). At presentation, the median triglyceride (TG) value was 4341 mg/dL (range 1277–14,110). All patients were treated with a restricted fat diet, medium-chain triglyceride (MCT), and omega-3-fatty acids. In addition, seven patients (58.3%) received fibrate. Fibrate was discontinued in two patients due to rhabdomyolysis and in one patient because of cholelithiasis. Seven (58.3%) patients experienced pancreatitis during the follow-up period. One female experienced recurrent pancreatitis and was treated with fresh frozen plasma (FFP). Conclusions: Apo CII deficiency is an ultra-rare autosomal recessive condition of hypertriglyceridemia associated with significant morbidity and mortality. Low-fat diet and MCT supplementation are the mainstays of therapy, while the benefit of TG-lowering agents are less well-defined.