Qualitative evaluation of the symptoms and quality of life impacts of long-chain fatty acid oxidation disorders.

ABSTRACT:

Background

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare autosomal-recessive genetic disorders characterized by metabolic deficiencies in which the body is unable to convert long-chain fatty acids into energy. To date, however, there is limited understanding of the patient experience of LC-FAOD.

Methods

The symptoms, observable signs, and quality of life (QoL) impacts associated with LC-FAOD were explored via a focus group (n = 8) and semi-structured interviews (n = 6) with patients and caregivers of patients with LC-FAOD, and interviews (n = 4) with expert clinicians. Data were analyzed via thematic analysis and summarized in a conceptual model.

Results

Participants reported a wide range of signs and symptoms associated

SUBMITTER: Williams-Hall R 

PROVIDER: S-EPMC8755934 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature