- Poster presentation
- Open Access
Screening for inherited metabolic disorders in patients with Familial Mediterranean Fever
Pediatric Rheumatology volume 13, Article number: P97 (2015)
Familial Mediterranean fever (FMF) is an autosomal recessive auto-inflammatory disease, presenting with recurrent episodes of fever and polyserositis. Diagnosis of FMF is may be challenging especially in pediatric population. Mitochondrial fatty acid oxidation disorders and porphyrias can present with periodic abdominal and muscle pain. Incidence of both FMF and inherited metabolic disorders (IMD) are increased in Turkish patients partially due to high consanguinity rates.
The aim of the present study is determine the inherited metabolic disorders in differential diagnosis of Turkish pediatric FMF patients.
174 patients who were diagnosed as FMF enrolled the study. In all patients, a fasting dry spot blood sample was taken for acyl-carnitine analyses by tandem mass spectrometry. Fresh, light-protected spot urine test was performed for porphobilinogen screening. Second-tier test with urine organic acid analysis and urine porphyrin metabolites were performed if pathologic findings were detected in acyl-carnitine profile or in porphobilinogen screening, for confirmation. An age matched healthy 50 children served as control group.
Of the 174 patients diagnosed with FMF, none of our patients was diagnosed with porphyria; two patients with fatty acid oxidation defect, one with multiple acyl-CoA dehydrogenase deficiency and one with possible medium-chain acyl-CoA dehydrogenase deficiency were detected during the study.
Our data revealed that screening for porphobilinogen for pediatric FMF patients is unnecessary, but an investigation of tandem mass based acyl-carnitine analyses can be helpful for the differential or additional diagnosis of FMF in developing countries that does not have nationwide expanded newborn screening programme.
Rights and permissions
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made.
The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.
To view a copy of this licence, visit https://creativecommons.org/licenses/by/4.0/.
The Creative Commons Public Domain Dedication waiver (https://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
About this article
Cite this article
Kiykim, E., Aktuglu-Zeybek, A., Barut, K. et al. Screening for inherited metabolic disorders in patients with Familial Mediterranean Fever. Pediatr Rheumatol 13 (Suppl 1), P97 (2015). https://doi.org/10.1186/1546-0096-13-S1-P97
- Familial Mediterranean Fever
- Mitochondrial Fatty Acid Oxidation
- Fatty Acid Oxidation Disorder