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Familial Mediterranean Fever (FMF) is the most common inherited autoinflammatory disease affecting 150,000 patients worldwide. Periodic febrile exacerbations, peritonitis, and pleuritis are characteristic disease features. Dysregulation of IL-1β secretion has an important role in the pathophysiology of the disease, and IL-1β also serves as a therapeutic target. Chronic inflammation has been associated with early atherosclerotic and cardiovascular disease in various rheumatic diseases. An increased risk for cardiovascular events associated with disease activity has been described in rheumatoid arthritis, psoriatic arthritis, and systemic lupus erythematosus. In addition, autonomic nervous system dysfunction may contribute to increased cardiovascular risk in patients with inflammatory disease. For example, decreased heart rate variability is an important feature of cardiac autonomic dysfunction and is an isolated risk factor for cardiovascular events. Autonomic dysfunction studies related to FMF have conflicting results.
The aim of this study was to determine autonomic dysfunction symptoms and objective findings in patients with FMF; Demographic characteristics, disease characteristics, inflammatory burden, fatigue level, sleep quality, presence of fibromyalgia and their relationship with quality of life were evaluated and compared with healthy controls.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients diagnosed with Familial Mediterranean Fever |
| ||
| Healthy Controls |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Composite Autonomic Symptom Score-31 | Diagnostic Test | Standardized questionnaire to determine the level of autonomic dysfunction |
|
| Measure | Description | Time Frame |
|---|---|---|
| Composite Autonomic Symptom Score-31 | It is a widely applicable, up-to-date, easy-to-apply and scientifically-based test that evaluates autonomic symptoms and functions by the person himself. It consists of 31 multiple-choice questions in 6 autonomic areas: orthostatic intolerance, vasomotor, secretomotor, gastrointestinal, bladder function and pupillomotor areas. A score in the range of 0-100 is obtained as a result of multiplying each area by the weight factor determined by the study. High score indicates presence and severity of autonomic dysfunction. | 6 months |
| r-r interval variability with normal breathing | The active and reference superficial recording electrodes are on the dorsal side of both hands, and the ground electrode is placed on the wrist. The R-R interval variability is calculated automatically by the electromyography device over a 1-minute recording. | 6 months |
| r-r interval variability with deep breathing | The active and reference superficial recording electrodes are on the dorsal side of both hands, and the ground electrode is placed on the wrist. In order to determine the R-R interval variability with deep breathing, the patient is given 6 to 8 deep breaths, consisting of 5 seconds of inspiration followed by 5 seconds of expiration, and the result is automatically calculated by the electromyography device. | 6 months |
| Valsalva ratio | The active and reference superficial recording electrodes are on the dorsal side of both hands, and the ground electrode is placed on the wrist. The test was performed by asking the subject to sit quietly and then blow into a mouthpiece attached to an aneroid pressure gauge at a pressure of 40 mmHg for 15 seconds. The ratio of the longest R-R interval shortly after the manoeuver (within about 20 beats) and the shortest R-R interval during the manoeuver is then measured. The result was expressed as the Valsalva ratio that is taken as the mean ratio from three successive Valsalva manoeuvers. |
| Measure | Description | Time Frame |
|---|---|---|
| Familial Mediterranean Fever Quality of Life Scale (FMF-QoL) | FMF-QoL was developed to evaluate the quality of life in FMF patients. This scale consists of 20 questions in the form of a Likert scale and the total scoring is between 0-80. High scores indicate a decrease in quality of life. | 6 months |
| Hospital Anxiety and Depression Scale (HADS) |
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Inclusion Criteria:
Familial Mediterranean Fever group;
Healthy control group;
Exclusion Criteria:
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Patients with FMF Healthy control group
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| İmran Kalkan | Contact | +90 530 340 5594 | imrankalkann55@gmail.com |
| Name | Affiliation | Role |
|---|---|---|
| Mehmet Tuncay Duruöz, Prof | Marmara University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Marmara University School of Medicine, Pendik Education and Research Hospital, Department of Physical Medicine and Rehabilitation | Recruiting | Istanbul | Turkey (Türkiye) |
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|
| r-r interval variability with normal breathing | Diagnostic Test | electrophysiological test to detect parasympathetic dysfunction |
|
| r-r interval variability with deep breathing | Diagnostic Test | electrophysiological test to detect parasympathetic dysfunction |
|
| Valsalva ratio | Diagnostic Test | electrophysiological test to detect parasympathetic dysfunction |
|
| 30:15 ratio | Diagnostic Test | electrophysiological test to detect parasympathetic dysfunction |
|
| sympathetic skin response | Diagnostic Test | electrophysiological test to detect sympathetic dysfunction |
|
|
| blood pressure response to standing | Diagnostic Test | clinical test to detect sympathetic dysfunction |
|
| blood pressure response to sustained handgrip test | Diagnostic Test | clinical test to detect sympathetic dysfunction |
|
| Hospital anxiety and depression scale | Other | Standardized questionnaire to investigate the depression and anxiety |
|
|
| Fibromyalgia rapid screening tool | Diagnostic Test | Standardized questionnaire to determine the presence of fibromyalgia |
|
|
| Familial Mediterranean Fever Quality of life scale | Other | Standardized questionnaire to investigate the quality of life in Familial Mediterranean Fever patients |
|
|
| Jenkins Sleep Evaluation Scale | Other | Standardized questionnaire to investigate the sleep quality and disturbance |
|
| The Fatigue Severity Scale | Other | Standardized questionnaire to investigate the fatigue severity |
|
|
| 6 months |
| 30:15 ratio | The active and reference superficial recording electrodes are on the dorsal side of both hands, and the ground electrode is placed on the wrist.The R-R interval on the ECG was recorded and used to determine the instantaneous HR at rest and then on the 15th and 30th beats after standing. The HR should normally rise after about 30 seconds as part of the response to return the blood pressure (BP) to normal. After standing up, the 30:15 ratio obtained by dividing the longest R-R distance around the 30th beat by the shortest R-R distance around the 15th beat was calculated automatically by the EMG device. | 6 months |
| sympathetic skin response | Sweating that occurs in response to many different stimuli, electrolyte in the skin triggers changes in skin conductivity, resulting in instantaneous changes in skin conductivity. Sympathetic skin response evaluates these instantaneous changes in the skin in response to sweating. Sympathetic skin response reflects the function of sympathetic nerve fibers.Active recording electrodes on palm and sole; reference electrodes is placed on the back of the hand and the back of the foot. Responses obtained by applying electrical current over the median nerve trace are evaluated. | 6 months |
| blood pressure response to standing | Participants were asked to stand up for 3 minutes after a 10-minute resting period in a supine position. The systolic and diastolic BP (SBP and DBP) just before standing, and 3 minutes after active standing were determined, in order to define postural change in BP and to evaluate orthostatic intolerance. | 6 months |
| blood pressure response to sustained handgrip | Blood pressure measurement is continued at 1-minute intervals while patients perform sustained handgip at 30% of their maximum volitional strength for 5 minutes.The absolute difference between the highest DBP during handgrip and the basal DBP just before the handgrip was noted. | 6 months |
This scale consists of 14 questions in total, and anxiety symptoms are questioned in half of the questions and depression-related complaints in the other half. A subscore of 8 or higher for depression or anxiety is considered a clinical case. |
| 6 months |
| Fibromyalgia Rapid Screening Tool (FIRST) | This scale consists of 6 questions investigating the most relevant clinical features of fibromyalgia. The questions are answered as yes/no and 5 or more out of 6 points in total are in favor of fibromyalgia. | 6 months |
| The Fatigue Severity Scale (FSS) | It consists of a total of 9 questions in which complaints related to fatigue are scored between 0 and 7, taking into account the fatigue in the last week. The mean score is obtained by dividing the total score by 9, and it is defined as <4.0 points as no fatigue, 4.0-5.0 points at the border, and >5.0 points as fatigue. | 6 months |
| Jenkins Sleep Evaluation Scale (JSS) | It is a scale in which scores between 0 and 5 are made for each symptom by questioning how many days in a month 4 sleep-related symptoms are experienced considering the last 1 month. The total score is between 0-20, and as the score increases, sleep quality deteriorates. | 6 months |
|
| ID | Term |
|---|---|
| D010505 | Familial Mediterranean Fever |
| D054969 | Primary Dysautonomias |
| ID | Term |
|---|---|
| D056660 | Hereditary Autoinflammatory Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D001342 | Autonomic Nervous System Diseases |
| D009422 | Nervous System Diseases |
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| ID | Term |
|---|---|
| C018209 | 4-amino-4'-hydroxylaminodiphenylsulfone |
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