Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue European Journal of Neurology Année : 2023

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

Résumé

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.
Fichier principal
Vignette du fichier
Euro J of Neurology - 2023 - Rouyer - Long‐term prognosis of fatty‐acid oxidation disorders in adults Optimism despite the.pdf (3.43 Mo) Télécharger le fichier
Origine Publication financée par une institution
Licence

Dates et versions

hal-04334549 , version 1 (29-05-2024)

Licence

Identifiants

Citer

Alice Rouyer, Céline Tard, Anne Frédérique Dessein, Marco Spinazzi, Anne Laure Bédat-Millet, et al.. Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available. European Journal of Neurology, 2023, 31 (2), pp.e16138. ⟨10.1111/ene.16138⟩. ⟨hal-04334549⟩
24 Consultations
5 Téléchargements

Altmetric

Partager

Gmail Mastodon Facebook X LinkedIn More