{Reference Type}: Journal Article
{Title}: Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency.
{Author}: Yoldas Celik M;Canda E;Yazici H;Erdem F;Yuksel Yanbolu A;Atik Altinok Y;Pariltay E;Akin H;Kalkan Ucar S;Coker M;
{Journal}: Nutr Metab Cardiovasc Dis
{Volume}: 34
{Issue}: 7
{Year}: 2024 Jul 17
{Factor}: 4.666
{DOI}: 10.1016/j.numecd.2024.02.006
{Abstract}: <B>OBJECTIVE: </B>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.<BR><B>RESULTS: </B>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).<BR><B>CONCLUSIONS: </B>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.