Background Familial mediterranean fever (FMF) is the most prevalent hereditary autoinflammatory disorder. While disease features such as fever, polyserositis and systemic amyloidosis are well recognized, little is known about the involvement of the autonomous nervous system. However, autonomic dysfunction has been identified as a major problem in autoimmune diseases such as systemic lupus erythematosus and diabetes mellitus (1). Resulting morbidities include orthostatic and gastrointestinal dysregulation and reduced heart rate variability.
Objectives To prospectively investigate whether signs and symptoms of autonomic dysfunction are more prevalent in FMF patients than in age and gender matched healthy controls.
Methods Patients fulfilling the classification criteria for FMF were included in the study. Data on genotype, disease activity, disease manifestations, current treatment and presence/absence of amyloidosis was gathered. Patients and healthy controls were evaluated using the COMPASS-31 questionnaire, a well-validated and feasible self-assessment instrument for the evaluation of autonomic functions and symptoms (2). Additional tests included assessment of blood pressure responses to sympathic and parasympathic stimuli, heart rate variability analysis and skin conductance measurement.
Results Sofar, 18 FMF patients and 15 healthy controls were enrolled into this ongoing study. Mean age and gender distribution did not differ significantly in both groups. Compared to healthy controls, FMF patients had a significantly higher mean COMPASS-31 score (20.7±6.8 vs. 7.1±5.3, p<0.05). This difference remained significant after the GI domain of the COMPASS-31 questionnaire was excluded from analysis (15.2±5.5 vs. 6.2±4.3, p<0.05). Concerning the COMPASS-31 subdomains, mean scores in the vasomotor, secretomotor and GI domain were significantly higher in the FMF group than in the control group (p<0.05 each), while there were no differences between patients and controls in the orthostatic, bladder and pupillomotor domain. Preliminary results of the biometric tests confirm the COMPASS-31 findings.
Conclusions The presented data implies autonomic dysfunction in patients with FMF. Thorough assessment of FMF patients for the presence of ANS pathology seems to be warranted. Research involving biometric tests involving the assessment of blood pressure responses to sympathic and parasympathic stimuli, heart rate variability analysis and skin conductance measurement are now in progress to further clarify these results.
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Sletten DM et al.: COMPASS-31: a refined and abbreviated Composite Autonomic Symptom Score. Mayo Clin Proc 2012;87:1196-201.
Disclosure of Interest None declared