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Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.
J Inherit Metab Dis. 2012 Jan; 35(1):115-23.JI

Abstract

INTRODUCTION

There is little robust empirical evidence on which to base treatment recommendations for fatty acid oxidation disorders. While consensus guidelines are important, understanding areas where there is a lack of consensus is also critical to inform priorities for future evaluative research.

METHODS

We surveyed Canadian metabolic physicians on the treatment of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, and mitochondrial trifunctional protein (MTP) deficiency. We ascertained physicians' opinions on the use of different interventions for the long-term management of patients as well as for the management of acute illness, focusing on identifying interventions characterized by high variability in opinions. We also investigated factors influencing treatment decisions.

RESULTS

We received 18 responses (response rate 45%). Participants focused on avoidance of fasting and increased meal frequency as interventions for the management of MCAD deficiency. For the long-chain disorders, avoidance of fasting remained the most consistently endorsed intervention, with additional highly endorsed treatments differing for VLCAD versus LCHAD/MTP deficiency. L-carnitine supplementation and restriction of dietary fat were characterized by high variability in physicians' opinions, as were several interventions specific to long-chain disorders. Social factors and patient characteristics were important influences on treatment decisions.

CONCLUSIONS

Based on our findings we suggest that high priority treatments for rigorous effectiveness studies could include L-carnitine supplementation (MCAD and LCHAD/MTP deficiencies), restriction of dietary fat, and, for the long-chain disorders, feeding practices for breastfed infants and the use of various supplements (essential fatty acids, carbohydrates, cornstarch, multivitamins).

Authors+Show Affiliations

Department of Epidemiology & Community Medicine, University of Ottawa, 451 Smyth Rd, Ottawa, Ontario, Canada. bpotter@uottawa.caNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21630065

Citation

Potter, Beth K., et al. "Variability in the Clinical Management of Fatty Acid Oxidation Disorders: Results of a Survey of Canadian Metabolic Physicians." Journal of Inherited Metabolic Disease, vol. 35, no. 1, 2012, pp. 115-23.
Potter BK, Little J, Chakraborty P, et al. Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. J Inherit Metab Dis. 2012;35(1):115-23.
Potter, B. K., Little, J., Chakraborty, P., Kronick, J. B., Evans, J., Frei, J., Sutherland, S. C., Wilson, K., & Wilson, B. J. (2012). Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. Journal of Inherited Metabolic Disease, 35(1), 115-23. https://doi.org/10.1007/s10545-011-9352-2
Potter BK, et al. Variability in the Clinical Management of Fatty Acid Oxidation Disorders: Results of a Survey of Canadian Metabolic Physicians. J Inherit Metab Dis. 2012;35(1):115-23. PubMed PMID: 21630065.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. AU - Potter,Beth K, AU - Little,Julian, AU - Chakraborty,Pranesh, AU - Kronick,Jonathan B, AU - Evans,Jessica, AU - Frei,Julia, AU - Sutherland,Sarah C, AU - Wilson,Kumanan, AU - Wilson,Brenda J, Y1 - 2011/06/01/ PY - 2011/03/23/received PY - 2011/05/11/accepted PY - 2011/04/27/revised PY - 2011/6/2/entrez PY - 2011/6/2/pubmed PY - 2012/5/26/medline SP - 115 EP - 23 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 35 IS - 1 N2 - INTRODUCTION: There is little robust empirical evidence on which to base treatment recommendations for fatty acid oxidation disorders. While consensus guidelines are important, understanding areas where there is a lack of consensus is also critical to inform priorities for future evaluative research. METHODS: We surveyed Canadian metabolic physicians on the treatment of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, and mitochondrial trifunctional protein (MTP) deficiency. We ascertained physicians' opinions on the use of different interventions for the long-term management of patients as well as for the management of acute illness, focusing on identifying interventions characterized by high variability in opinions. We also investigated factors influencing treatment decisions. RESULTS: We received 18 responses (response rate 45%). Participants focused on avoidance of fasting and increased meal frequency as interventions for the management of MCAD deficiency. For the long-chain disorders, avoidance of fasting remained the most consistently endorsed intervention, with additional highly endorsed treatments differing for VLCAD versus LCHAD/MTP deficiency. L-carnitine supplementation and restriction of dietary fat were characterized by high variability in physicians' opinions, as were several interventions specific to long-chain disorders. Social factors and patient characteristics were important influences on treatment decisions. CONCLUSIONS: Based on our findings we suggest that high priority treatments for rigorous effectiveness studies could include L-carnitine supplementation (MCAD and LCHAD/MTP deficiencies), restriction of dietary fat, and, for the long-chain disorders, feeding practices for breastfed infants and the use of various supplements (essential fatty acids, carbohydrates, cornstarch, multivitamins). SN - 1573-2665 UR - https://www.unboundmedicine.com/medline/citation/21630065/Variability_in_the_clinical_management_of_fatty_acid_oxidation_disorders:_results_of_a_survey_of_Canadian_metabolic_physicians_ L2 - https://doi.org/10.1007/s10545-011-9352-2 DB - PRIME DP - Unbound Medicine ER -