Abstract
BackgroundPain is the clinical hallmark of patients in patients with autoinflammatory diseases (AID) caused by variants of the NLRP3-, MEFV- or TNFRSF1A gene. However, no systematical analysis of the clinical and psychological presentation of pain has been performed to date.MethodsTwenty-one symptomatic patients with variants in the NLRP3-, MEFV- and TNFRSF1A gene and clinical signs suggestive of an AID were retrospectively included in this monocentric cross-sectional case-series study. Patients were examined and interviewed using the German pain questionnaire. The hospital anxiety and depression scale (HADS) was applied to screen patients for anxiety and depression.ResultsTwenty out of 21 AID patients (95%) reported pain at the time of examination. Mean current pain intensity in all AID patients comprised 3.6 ± 1.3 and mean maximum pain intensity was 7.0 ± 1.6 on a 11-point numeric ranging scale (NRS). In 15 patients (71%), pain was present for more than 60 months. Ten patients (48%) experienced recurrent attacks with asymptomatic intervals and 7 patients (33%) suffered from constant pain, while 4 patients (19%) experienced both. Nociceptive pain including musculoskeletal and visceral affection was the most prominent type of pain (n = 20; 95%). Pain symptoms were treated continuously with analgesic or co-analgesic drugs in 10 patients (48%). Five patients (24%) have been positively screened for concomitant depression or anxiety.ConclusionsEarly and prompt diagnosis is necessary to provide multimodal pain treatment and to avoid the development of chronic pain in patients with AID.
Highlights
Pain is the clinical hallmark of patients in patients with autoinflammatory diseases (AID) caused by variants of the NLRP3, MEFV- or TNFRSF1A gene
Study population Between January 2016 and March 2018, a retrospective analysis of 21 patients with clinically and genetically determined AID was conducted at the Institute of Clinical Neuroimmunology in cooperation with the interdisciplinary Pain Centre, both located within the University Hospital Munich (LMU)
Genetic testing revealed a heterozygous Q703K substitution encoded by exon 3 of the NLRP3 gene, while no other mutation was detected in NLRP3, MEFV or TNFRSF1A
Summary
Pain is the clinical hallmark of patients in patients with autoinflammatory diseases (AID) caused by variants of the NLRP3-, MEFV- or TNFRSF1A gene. Pain is one of the predominant characteristics in patients with autoinflammatory diseases (AID), including the cryopyrin-associated periodic syndrome (CAPS), familial Mediterranean fever (FMF) or tumor necrosis factor receptor associated periodic syndrome (TRAPS). It is the experience of pain that significantly impacts patient’s daily life activities and drives patients with autoinflammatory. TRAPS is caused by mutations in the TNFR SF1A gene, which encodes the TNF receptor TNFR1. These mutations have been associated with an accumulation of mutated TNF receptors in the endoplasmic reticulum due to inadequate shedding, triggering an inflammatory response [13]
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