Familial chylomicronemia syndrome in children and adolescents: diagnosis and treatment

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Abstract

Familial chylomicronemia syndrome is a rare inherited disease. Recessive mutations in genes encoding lipoprotein lipase or modulator proteins result in loss of enzyme function. As a result, the removal of triglyceride-rich lipoproteins from plasma is impaired, severe hypertriglyceridemia develops, and the risk of acute pancreatitis sharply increases. The mainstay of treatment for patients with familial chylomicronemia syndrome is a specialized, very low-fat diet.

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About the authors

Irina I. Pshenichnikova

Russian Medical Academy of Continuous Professional Education

Email: PshenichnikovaII@rmapo.ru
ORCID iD: 0000-0002-0058-3803

Cand. Sci. (Med.), Russian Medical Academy of Continuous Professional Education

Russian Federation, Moscow

Irina N. Zakharova

Russian Medical Academy of Continuous Professional Education

Author for correspondence.
Email: zakharova-rmapo@yandex.ru
ORCID iD: 0000-0003-4200-4598

D. Sci. (Med.), Prof., Russian Medical Academy of Continuous Professional Education

Russian Federation, Moscow

Ismail M. Osmanov

Bashlyaeva Children's City Clinical Hospital

Email: dgkb-bashlyaevoy@zdrav.mos.ru
ORCID iD: 0000-0003-3181-9601

D. Sci. (Med.), Prof., Bashlyaeva Children's City Clinical Hospital

Russian Federation, Moscow

Inna I. Trunina

Bashlyaeva Children's City Clinical Hospital

Email: zakharova-rmapo@yandex.ru

D. Sci. (Med.), Prof., Bashlyaeva Children's City Clinical Hospital

Russian Federation, Moscow

Viktoria V. Pupykina

Russian Medical Academy of Continuous Professional Education

Email: zakharova-rmapo@yandex.ru
ORCID iD: 0000-0003-2181-8138

Resident, Russian Medical Academy of Continuous Professional Education

Russian Federation, Moscow

Indira Kh.-B. Arsel'gova

Russian Medical Academy of Continuous Professional Education

Email: zakharova-rmapo@yandex.ru

Clinical Resident, Russian Medical Academy of Continuous Professional Education

Russian Federation, Moscow

Yulia V. Koba

Russian Medical Academy of Continuous Professional Education

Email: yuliakoba777@gmail.com
ORCID iD: 0000-0001-7902-8281

Resident, Russian Medical Academy of Continuous Professional Education

Russian Federation, Moscow

Tatiana I. Bocharova

Bashlyaeva Children's City Clinical Hospital

Email: zakharova-rmapo@yandex.ru

Gastroenterologist, Bashlyaeva Children's City Clinical Hospital

Russian Federation, Moscow

Aia R. Abazova

Russian Medical Academy of Continuous Professional Education

Email: zakharova-rmapo@yandex.ru

Clinical Resident, Russian Medical Academy of Continuous Professional Education

Russian Federation, Moscow

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