The burden of familial chylomicronemia syndrome in Canadian patients.

ABSTRACT:

Background

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by persistent extreme hypertriglyceridemia as a result of lipoprotein lipase deficiency. Canada is an important region for FCS research due to the high prevalence rates. The burden of illness and quality of life of Canadian patients, however, have been inadequately addressed in the literature.

Objective

To understand the burden of illness of FCS on Canadian patients' lives.

Methods

IN-FOCUS is a global web-based survey open to patients with FCS, including patients in Canada. This survey captured information on diagnostic experience, symptoms, comorbidities, disease management, and impact on multiple life dimensions.

Results

A total of 37 Canadian patients com

SUBMITTER: Gaudet D 

PROVIDER: S-EPMC7268343 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature