Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.

Abstract

INTRODUCTION:

Fatty-acid oxidation disorders (FAODs) are recessive genetic diseases.

MATERIALS AND METHODS:

We report here clinical and paraclinical data from a retrospective study of 44 adults with muscular FAODs from six French reference centers for neuromuscular or metabolic diseases.

RESULTS:

The study cohort consisted of 44 adult patients: 14 with carnitine palmitoyl transferase 2 deficiency (32%), nine with multiple acyl-CoA deficiency (20%), 13 with very long-chain acyl-CoA dehydrogenase deficiency (30%), three with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (7%), and five with short-chain acyl-CoA dehydrogenase deficiency (11%). Disease onset occurred during childhood in the majority of patients (59%), with a mean age at onset of 15 years (range = 0.5-35) and a mean of 12.6 years (range = 0-58) from disease onset to diagnosis. The principal symptoms were acute muscle manifestations (rhabdomyolysis, exercise intolerance, myalgia), sometimes associated with permanent muscle weakness. Episodes of rhabdomyolysis were frequent (84%), with a mean creatinine kinase level of 68,958 U/L (range = 660-300,000). General metabolic complications were observed in 58% of patients, respiratory manifestations in 18% of cases, and cardiological manifestations in 9% of cases. Fasting acylcarnitine profile was used to orient genetic explorations in 65% of cases. After a mean follow-up of 10 years, 33% of patients were asymptomatic and 56% continued to display symptoms after exercise. The frequency of rhabdomyolysis decreased after diagnosis in 64% of cases.

CONCLUSION:

A standardized register would complete this cohort description of muscular forms of FAODs with exhaustive data, making it possible to assess the efficacy of therapeutic protocols in real-life conditions and during the long-term follow-up of patients.

• Authors: Alice Rouyer, Céline Tard, Anne-Frédérique Dessein, Marco Spinazzi, Anne-Laure Bédat-Millet, Dalia Dimitri-Boulos, Aleksandra Nadaj-Pakleza, Jean-Baptiste Chanson, Guillaume Nicolas, Claire Douillard, Pascal Laforêt
• Journal: European journal of neurology (Eur J Neurol) (Nov 28 2023) ISSN: 1468-1331 [Electronic] England
• PMID: 38015438 (Publication Type: Journal Article)
• Copyright: © 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.