Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs.
Le résumé fourni par la source
Background Long-chain fatty acid oxidation disorders (LcFAODs) are rare inherited disorders associated with impaired energy metabolism and increased risk of metabolic decompensation during catabolic stress. With improved diagnosis and care, affected women reach reproductive age, making pregnancy management an emerging clinical challenge.Methods We conducted an international, web-based survey among 55 metabolic centers from 21 countries to assess clinical management of pregnancies in women with lcFAODs focusing on management strategies rather than pregnancy outcomes. The 23-item questionnaire addressed preconception counseling, monitoring strategies, dietary management, peripartum care, postpartum follow-up, and neonatal management.Results Among respondents, 65% had managed pregnancies in women with lcFAODs, reporting 131 cases, most commonly in CPT2 (n = 52) and VLCAD (n = 44) deficiencies. Preconception counseling and genetic consultation were widely recommended (>85%). Core management principles included dietary adaptation with restriction of long-chain fatty acids, supplementation with medium-chain triglycerides, and prevention of catabolism. Marked inter-center variability was observed in monitoring frequency, biochemical parameters, and follow-up intensity. Creatine kinase was the most used biochemical marker for monitoring metabolic stability. Multidisciplinary care was endorsed but inconsistently implemented, with approximately half of the centers reporting structured multidisciplinary meetings. Individualized peripartum plans were nearly universal, and delivery in specialized centers was generally recommended.Conclusions Pregnancy in women with lcFAODs is generally considered feasible and safe under specialist metabolic and obstetric care. However, management remains highly heterogeneous, particularly regarding monitoring and multidisciplinary structures. These findings highlight the need for international consensus and standardized care frameworks to optimize maternal and neonatal outcomes.
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