The importance of platelet-related variables in familial mediterranean disease in children

Aim: We aimed to evaluate the relationship between the platelet-related variables and patients clinic features, genetics and inflamatory indicators in patients following up with FMF diagnosis. Material and Method: Patients who were followed up with the diagnosis of Familial Mediterranean Fever in Adnan Menderes University Paediatric Nephrology department between April 1 2000 and April 1 2020 were included in the study. The patients were invited and a 40-question questionnaire was filled to evaluate the clinical findings, the frequency and duration of the attacks, comorbidity, family history of the disease, the patient's operation history, the severity of the attack, the APR values in the attack, the presence of proteinuria, pre- and post-treatment attack frequency and severity. The files of the patients were scanned retrospectively and the clinical findings during the attack, APR values (Serum Amiloid A, Fibrinogen, ESR, CRP, CBC) genetic mutation results, and the drug information they used were recorded. Patients were re-evaluated according to Livneh, Tel Hashomer and Yalçınkaya diagnostic criterias. Platelet count, plateletcrit (PCT), platelet distribution width (PDW), mean platelet volume (MPV) values were found and recorded from the CBCs of the patients during the attack. Datas were evaluated using SPSS 21.0 statistics program. Findings: 54.2% of the 264 participants were girls and 45.8% were boys, and the mean age was 11.44 ± 4.31, the mean age at diagnosis was 7.31 ± 3.64. %33.3 of the patients were followed up in every three months, %18.5 were in every six months and %11.7 were followed up once in a year. Recurrent inflammatory attacks in 60.6% of the patients were positive while 39.4% had positive AAA genetic mutations, but no clinical findings. While the frequency of attacks was once a month in 77.8% of the participants before the treatment, it decreased to less than once in a year in 67.2% after the treatment. While 10.9% had additional diseases, 17.2% of them were HSP, 6.8% were PFAPA and 75.8% were other diseases. 17.3% of the patients had an operation and 39.1% of the operated patients were appendectomy, 6.5% tonsillectomy and 54.3% was other operations. 17.3% of the patients had an operation and 39.1% of the operated patients were appendectomy, 6.5% tonsillectomy and 54.3% other operations. While 49.2% of the patients had no disease in their family history, 45.5% had a diagnosis of AAA and 4.9% had other collagen tissue disease. In the clinics of the patients, 89% had abdominal pain (alone and / or with other accompanying clinical findings), 8% had arthritis (alone and / or with other accompanying clinical findings) and 3% had chest pain ( alone and / or with other accompanying clinical findings). The distribution of AAA gene mutations of the participants was 83.7% heterozygous, 9.9% homozygous, 1.5% had two mutations, and 4.9% had no mutations. 36.8% of FMF pathogenicity has at least one pathogen mutation, 22.4% pathogen and normal, 19.2% unknown significance, 15.2% normal and 4.8% unknown significance and it was found to be normal. 96.6% of the patients were clinically and laboratory suitable for FMF 50 score. 93.3% of the patients gave a complete response to colchicine treatment. Side effect developed in 1.5% of the patients and this side effect was diarrhea. 2.9% of the patients used IL-1 and 80% of them responded to the treatment. Those with predominant abdominal pain attacks, those with predominant arthritis attacks, and those with predominant chest pain were divided into three groups and when the three clinical groups were compared with the attack, fibrinogen, sedimentation, leukocyte, LAA and CRP; a significant correlation was found between clinical signs of attack and CRP values during exacerbation. No statistical relationship was found between those who had frequent attacks before treatment and those who responded to treatment and those who had high and normal fibrinogen, sedimentation, leukocyte, CRP levels during the attacks, and those with and without anemia. The patients' episode PDW, Leukocyte, Neutrophil, NLR, PCT / LYMPHOCIDE, PCT / NEUTROPHIL, PCT / LEUKOCIDE, PCT / NLR, PCT / MPV, PCT / PDW, MPV / Leukocyte, MPV / PLT values were found to be significantly higher. High PCT, Lymphocyte, PLT, PCT / NEUTROPHIL, PCT / LEUKOCIDE, PCT / NLO, PCT / MPV, PCT / PDW, MPV / LYMPHOCIDE, MPV / PLT values were found to be significantly higher during attack compared to the attack CRP values. Remission leukocyte, neutrophil, NLR, PCT / NEUTROPHIL, PCT / LEUKOCID, PCT / NLO, MPV / LEUKOCYT values were found to be statistically significantly higher when compared with remission leukocyte. In correlation analysis, MPV, PLT, PCT / NLO, PCT / MPV, MPV / PLT, MPV / Leukocyte and lymphocyte count were weak to moderate with attack sedimentation and leukocyte, PCT / Lymphocyte, PCT / PDW and PCT counts were moderately weak with fibrinogen and PCT/PLT has a weak moderate relationship with leukocyte ratio. Result: As a result; Examining our series of patients with FMF, including the last twenty years, the most frequent symptom is attacks of abdominal pain, 60.8% of which are known as pathogens, the most common M694V and E148Q mutations were detected, and the diagnosis of the patients was seen to be in accordance with Özen Yalçınkaya diagnostic criteria and FMF50 score. The fact that the platelet-related variables did not significantly increase the number of PCT and MPV, which we predicted before the research in FMF attack, and the PDW was significantly low, suggesting that large active platelets were used during the FMF attack. When looking at our study, the statistically weak-moderate correlation between the number of exacerbation PCT and relapse CRP made us think that it would help to understand whether the patient is in an attack by just looking at the CBC. Considering that epigenetic mechanisms among phenotype, genotype, acute phase and platelet-related markers cannot be denied with all these results, prospective controlled studies are required. Key Words: Familial Mediterranean fever, Platelet, Plateletcrit, Acute phase markers, Genetics Contact info:drbesimhacioglu@gmail.com