Health-related Quality of Life in Patients with long-chain Fatty Acid Oxidation Disorders

Authors: Suzan JG Knottnerus 1,2, MD, Jeannette C Bleeker 1,2, MD, Peter M. van Hasselt MD PhD 2, Frits A. Wijburg, MD 1, Gepke Visser, MD PhD 1,2


1 Department of Metabolic Diseases, Emma Children’s Hospital, Academic Medical Center, Amsterdam, The Netherlands

2 Department of Metabolic Diseases, Wilhelmina Children’s Hospital, University

Medical Center Utrecht, Utrecht, The Netherlands

Corresponding author’s information:

Corresponding author: Suzan JG Knottnerus

Corresponding author’s e-mail address:


Patients with long-chain fatty acid oxidation disorder (FAO) are at risk to develop clinical symptoms as hypoketotic hypoglycemia, rhabdomyolysis and cardiomyopathy. There is still limited knowledge about the impact of these symptoms on the quality of life (QoL) in FAO patients and families compared to healthy peers. Parents of a chronically ill child are at risk of a lower health-related QoL, experience more posttraumatic stress symptoms, and report higher levels of distress than parents of healthy children. In addition, studies show that parental psychosocial problems influence the well-being of the child.

Over the past decade, patient reported outcome measures (PRO) targeted at the QoL, have become crucial for the assessment of new treatment options. Systematically monitoring QoL in FAO patients will therefore be of great value in the evaluation of upcoming treatment options and furthermore will provide more insight in the burden of the disorders.

 Objective to investigate whether

  • It is feasible to systematically monitor Health Related QoL and psychosocial
  • functioning of patients with FAO in daily practice
  • How QoL is compared to healthy peers


Implementation of a web-based program KLIK (Quality of Life in Clinical Practice) in the national Dutch FAO centre. All patients were invited to join the KLIK program before they visited the outpatient clinic for their regular check-up. After registration digital questionnaires (Basic, LTO, PedsQL, PedsQL fatique) are available for both patients and parents, which have to be filled in before each visit to the clinic. Data are collected on physical, emotional and social wellbeing. Individual outcome on each domain is compared with a healthy norm score.


Currently 15 patients have participated. Preliminary results show that only a very limited amount of patients and parents continue to fill in the questionnaires. In collaboration with the designers of the program we have adapted the method and now allow patients to fill in the questionnaires when they are in the clinic for their evaluation.

The most evident finding thus far in LTO is, as expected, the increased anxiety which parents experience. Additional effort is needed to validate the test for patients above the age of 30.


Systematically monitoring Health Related QoL in patients with FAO is feasible but not yet routine and additional support is needed to collect the baseline information before the data can be used as PRO.

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