Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency.
Nutr Metab Cardiovasc Dis
; 34(7): 1798-1806, 2024 Jul.
Article
in En
| MEDLINE
| ID: mdl-38503616
ABSTRACT
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 ANDRESULTS:
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hyperlipoproteinemia Type I
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Nutr Metab Cardiovasc Dis
/
Nutr. metab. cardiovasc. dis
/
Nutrition, metabolism and cardiovascular diseases
Journal subject:
ANGIOLOGIA
/
CARDIOLOGIA
/
CIENCIAS DA NUTRICAO
/
METABOLISMO
Year:
2024
Document type:
Article
Country of publication:
Países Bajos