Síndrome de quilomicronemia: aspectos genéticos y revisión de la literatura / Chylomicronemia syndrome: genetic aspects and literature review
Rev. Hosp. Clin. Univ. Chile
; 33(2): 97-107, 2022. tab, ilus
Article
em Es
| LILACS
| ID: biblio-1401167
Biblioteca responsável:
CL36.1
ABSTRACT
Chylomicronemia syndrome is a metabolic condition characterized by severe hypertriglyceridemia and fasting chylomicronemia, secondary to an alteration in the ability to metabolize triglycerides. It can respond to different etiologies, the most frequent being multifactorial. Familial chylomicronemia syndrome, on the other hand, represents an infrequent cause of chylomicronemia syndrome, showing an autosomal recessive inheritance pattern. It's caused by pathogenic variants in genes related to chylomicron's metabolism, mainly LPL1 gene. One of the main associated risks is the occurrence of acute pancreatitis, which can also have a recurrent course. The primary therapy goal in patients with this condition is prevention of pancreatitis and related comorbidities. The treatment basis consists in reduce chylomicron formation by restriction of dietary fat, in association with physical activity and pharmacologic therapy. It is important to distinguish the etiology of chylomicronemia syndrome since it has repercussions in terms of response to treatment, complications, and recurrence risk. (AU)
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Hiperlipoproteinemias
Tipo de estudo:
Diagnostic_studies
Limite:
Aged80
/
Animals
/
Humans
/
Male
Idioma:
Es
Revista:
Rev. Hosp. Clin. Univ. Chile
Assunto da revista:
MEDICINA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Chile
País de publicação:
Chile