---

 Background and Objectives: Familial Mediterranean fever which is the prototype of the hereditary periodic fever syndromes is common in the countries around the Mediterranean Sea. Regarding the geographical position of the northwest of Iran, having Turkish originality and its vicinity to the Mediterranean Sea , the incidence of this disease is significant in Ardabil. The goal of this study was to introduce Familial Mediterranean Fever as a disease with significant outbreak in this area.

 Methods: This research is a descriptive study which has been done during one year from October 2004 to October 2005. According to the Tel-Hashomer criteria, the patients suffering from Familial Mediterranean Fever were collected from private clinics and pediatric rheumatology clinics records. Then from 112 patients only 74 ones were studied. All of the patients were interviewed and filled out a questionnaire.

 Results: Familial Mediterranean fever is common among children under 18 (76%) and more common in male than female. Abdominal pain has been the most common complaint (74%) and abdominal pain and fever (95% and 84% respectively) were the main clinical symptoms. The most common period of pain was 12-72 hours and the common recovery (attack free) period was from 1 week to 1 month (63/5%). Majority of the patients had hospital admission for diagnostic work up (85%) and some of them (32%) had been under surgical operation mistakenly. On the whole 92% of the patients had taken medications as a result of wrong diagnosis and 20% had positive familial history. 50% of the patients' parents were first degree relatives and in 59.5% delay in diagnosis was more than 3 years.

 Conclusion: Results of this study and introduction of this group of patients in a one-year research indicate that: Familial Mediterranean Fever is more common in the Northwest of Iran although physicians are not familiar with that. The common age for manifestation of this disease is under 18 and its presentation after the age of 40 is very rare.

---

Background & objectives: FMF is an auto-inflammatory and hereditary periodic disorder. The symptoms can occur in more than 80% during the first decade of life. With regard to high prevalence of FMF in northwest of Iran, this study was conducted to introduce especial features of FMF in this area.

Methods: This is a descriptive study performed on 403 patients with diagnosis of FMF according to the Tel-Hashomer criteria. Information obtained from patients' file and entered in the questionnaire. Data analyzed by SPSS v20 using simple descriptive statistical analysis.

Results: In this study 228 (56.6%) patients were male, and the mean age of patients was 21.03 years. The common symptoms were abdominal pain in 93.3% and fever in 88.1% of patients. Abdominal pain was the main complaint(49.6%), the average duration of pain was 43.3±34.5 hours and the average attack-free period was 36.5±29.6 days. 15.1% of patients had positive family history and 12.7% had history of appendectomy. Delayed diagnosis was more than three years in 52.3% of patients. Genetic analysis has been done in 239 patients in which 21.33% had no mutations, 39.7% were compound heterozygous genotype, 25.52% heterozygote and 13.38% had compound homozygous mutations. The most common mutations were M694V/V726A (10.46%) and the most common alleles were M694V (20.9%) and V726A (12.7%). The M694V-V726A genotype (12.7%) was the most common combined mutations in male and the common mutations in female was M694V/M694V (10.4%). Among the patients with abdominal pain M694V/V726A (12.5%) was more common. The genotypes of M680I/V726A (13.9%), M694/V726A and M694V/R761H (16.7%) and the M694V/M694V (33.3%) had the common mutations in patients with fever, chest pain and joint symptoms respectively.

Conclusion: First decade is usual age to presentation of FMF. M694V is the most common mutation and M694V-V726A is the common compound heterozygous mutation. MEFV mutations in this study are similar to Arabs results. It seems that clinical criteria still are the best way in diagnosis of FMF in spite of the fact that erysipelas like skin rash  is not common as a clinical criteria in this area

---

Background & objectives: MEFV gene has a major role in Familial Mediterranean Fever (FMF) as an auto-inflammatory disorder. FMF is most often seen in the people of the Mediterranean area. Considering the significant role of the MEFV gene in many rheumatologic diseases and even non-rheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and normal population of this area.
Methods: 224 healthy people entered into this study. The blood samples were screened for the 12 most common MEFV gene variants according to manufacturer’s instructions. (FMF Strip Assay, Vienna lab, Vienna, Austria)
They filled a questionnaire containing the required information. All patients were initially evaluated for the FMF symptoms and signs in themselves and their first-degree relatives based on clinical criteria. Chi-squared test and t-test were employed for statistical analysis using SPSS ver.24.  
Results: Among 224 cases, 113 cases (50.4%) were male, and 111 cases (49.6%) were female. MEFV mutations were detected in 57 patients (25%) of them, 28 cases were male (49.1%) and 29 cases were female (50.9%). The most frequent mutations were E148Q (18.3%, 41cases), followed by P369S (3.1%, 7 cases), V726A (2.2%, 5cases), A744S (1.3%, 3cases), F479L, M694V and R761H (0.8%, each 2 cases), and eventually K695R (0.4%) respectively. Some mutations such as M694I, M680I (G/C), M680I (G/A), I692del were not seen in these samples. There were compound heterozygous mutations of E148Q/P369S, E148Q/V726A, E148Q/P369S, and P369S / F479L in normal population without any findings in favor of FMF.
Conclusion: Twenty-five percent of the normal population of the northwest of Iran carrying a heterozygous variant of the MEFV gene, E148Q (18.3%) as a most common mutation, which can be considered as a normal variant in the healthy population. The presence of M694I, M680I (G/C), M680I (G/A) and I692del mutations in the normal population can be interpreted with cautiously, while particular compound heterozygous mutations can be considered as normal variants.