Hereditary periodic fever syndromes (incl. familial Mediterranean fever)

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Hereditary periodic fever syndromes (PFS) are a group of diseases characterised by the occurrence of recurrent fever attacks between mostly asymptomatic episodes. In addition to the fever attacks, the occurrence of systemic inflammatory reactions, particularly of the skin, mucous membranes and joints, is characteristic. They belong to the autoinflammatory diseases and are due to a disorder of the innate immune response.
Familial Mediterranean fever (FMF), which is particularly common in the eastern Mediterranean region, is one of the most frequent fever syndromes and is caused by mutations in the MEFV gene. Hereditary fever syndromes also include tumour necrosis factor receptor 1-associated periodic syndrome (TRAPS, mutations in TNFRSF1A), hyper-IgD syndrome (HIDS, mutations in the MVK gene) and cryopyrin-associated periodic syndromes (CAPS, mutations in the NLRP3 gene). Next-generation sequencing (NGS) is used to analyse the above-mentioned genes and, in the case of MEFV, is supplemented with a multiplex ligation-dependent product amplification (MLPA) analysis in order to be able to detect larger deletions/duplications in addition to point mutations.

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