Abstract

Other names for familial Mediterranean fever(FMF) include hereditary familial amyloidosis without neuropathy,Armenian disease,Reymann's syndrome,periodic disease, etc. It is a genetic autoinflammatory disease caused by the mefv gene mutation in the short arm of chromosome XVI,which occurs at variable intervals and usually begins in patients under the age of 20 and lasts for a short time,such as abdominal pain,fever, joint pain and joint swelling, chest pain, in severe cases, renal amyloidosis.The diagnosis is made by clinical signs,laboratory analysis and, in particular, molecular genetic testing.Clinical symptoms are caused by autoinflammatory processes caused by a violation of the synthesis of pyrine protein.

Cover Letter

Introduction
Familial Mediterranean fever or, as it is also called, periodic disease is a genetic autoinflammatory disease caused by a mutation in the mefv gene.The disease was first discovered in 1945,and in 1958 it entered the medical literature as a medical term. The mefv gene synthesizes 781 amino acid granulocytes, eosinophils,monocytes ,dendritic cells, and pyrine protein secreted from synovial and peritoneal fibroblasts.Pyrine protein regulates caspase 1(iL1 β-converting enzyme) and thus 1il 1β secretion, which plays a role in inflammatory processes.During the mutation, pyrine protein synthesis is disrupted, and as a result, control over the inflammatory process is lost, so that, this leads to the appearance of inflammatory foci in various serous membranes of the body, as well as in the peritoneum and the manifestation of clinical signs.M694v,v726a,m6801,m6941, and e1480 mutations are more common than mefv gene mutations.The disease occurs mainly in people living in countries located on the Mediterranean coast (Turks,Armenians,non-Ashkenazi Jews, etc.). the) It is also found among those who live in American and European countries, although it is more common. Studies have shown that the prevalence rate in Turkey varies from 150 in 1 to 10,000 in 1, depending on regional differences. The highest prevalence (395 in 1) was recorded from the Central Anatolian region, and the lowest (10,000 in 6) was recorded in the northwestern region of Turkey. Armenia is the second most affected country, with an estimated FMF prevalence of 500 cases per 1 person and a carrier ratio of 7 cases per 1 person. In Israel, the prevalence of FMF varies by ethnic group, with 500 being found from 1 in 1,000 to 1 among non-Ashkenazi Jews, and 73,000 being 1 among Ashkenazi Jews.There have been reports of lower prevalence in people of various ancestry, including patients in many other areas outside the Mediterranean basin (Greece, Italy, Japan and China), and this is mainly associated with the migration and domestication of people living on the Mediterranean coast.The disease begins mainly in individuals younger than 20 years of age. Clinical experience a 7-year-old boy was brought to our hospital by his family with occasional complaints of recurrent fever, nausea, abdominal pain, diarrhea.It is noted in his Anamnesis that he did not suffer from any pathological complaints at birth and later.Any rheumatological disease in the family is denied.According to the family history, the disease has been manifested for 2 years now with occasional recurrent abdominal pains,diarrhea,fever and nausea.During the examination, the patient is faint. Her skin is pale, pale, and her eyes have six shades. Visible mucous membranes are pale.The body temperature is 38 C. It is noted that the patient has pain when palpating the abdomen. The act of defecation is accelerated. The tongue is flabby, the tonsils are hypertrophied, the yawning border is hyperemic.

FULL ABDOMINAL ULTRASOUND
Liver-dimensions: right 108 mm (N-105.0 mm) left 42 mm (n - 50.0-55.0 mm).It is localized normally, the edges are clear, smooth.  Kidneys-right dimensions: length 80 mm (Nmax 85 mm)width: 35 mm (Nmax 45 mm ) parenchyma 11mm the bowl-basin system is not enlarged.Concrement is not mentioned. Left dimensions:length:72 mm(Nmax 85 mm)width: 33 mm (Nmax 45 mm) parenchyma: 11 mm the bowl-basin system has not expanded.Concrement is not mentioned. Spleen-dimensions:length:83 mm (Nmax 80.0 mm)width: 32 mm(Nmax 35.0 mm ) the structure of the tissue is homogeneous .Exogenicity is within the norm

Laboratory analysis
General analysis of blood-RBC 4.74(3,8-4,9) RDW-SD 42,1(N 35,1-41,7) RDW-CV 16,8(N 12,3-14,1) HGB 9,7(N 11,5-14,5) MCV 66,7(N 75-87) MCHC 30,6(N 32-37) MCH 20,4(N 25-31) HCT 31.6(n 33-41)PLT 691(N 160-510) ECS 100(N 0-15) CRP 41,33(N 0-5) creatinine 0,27 (N 0,32-0,6) amyloid a>300 (N <10) genetic molecular test - mefv gene 2.variation r202q in exon and 10.in the exon, the m694v muation was detected as homozygous.The results confirm a familial disease of Mediterranean fever.

Discussion
As a result of impaired pyrine synthesis in FMF disease, inflammatory foci begin to form in serous tissues.When such foci arise in the peritoneum,they begin to give symptoms similar to peritonitis, and the patient, along with a high temperature, begins to develop severe abdominal pains, nausea and vomiting.As a result of the inflammatory process in the joints, arthritis is also observed in the patient.In typical FMF, seizures last 24-72 hours,while artite seizures tend to last a little longer.In some patients, seizures occur at moderate intervals, but more often observed at variable intervals it is the catches that are seen.In FMF disease, fever is almost always seen,in babies even febrile seizures can sometimes be seen.Sometimes the only sign in young children can be fever.Abdominal pain is also seen in 90% of patients.In this case,abdominal pain,rigidity, discomfort during palpation,loss of intestinal sounds on auscultation,air-fluid level on abdominal X-ray examination, small amount of fluid in the abdominal cavity on abdominal tomography are observed.As a result of involvement of the pleura, one-sided acute sinking pain in the chest is observed.Symptomatic pericardial disease it is rare,sometimes pericardial fluid is detected during a randomized Echo examination. The most specific skin sign of FMF is Erysipelas-like erythema.It is an erythematous rash that is more common on the back surface of the foot,on the ankle.This rash is more common in patients with m694v homozygous.In laboratory tests, ECHS,CRP,elevation in immunoglobulins, leukocytosis and thrombocytosis are noticeable.For diagnosis, the Tel-Hashomer criterion is used: Great criteria: 1.Arthritis / serous membrane inflammation 2.Having AA type amyloidosis without underlying disease 3.Effective treatment with colchicine Minor criteria-1) recurrent high fever attacks 2) presence of erysipelas-like erythema 3) presence of FMF in a first-degree relative. An accurate diagnosis is made by the presence of 2 large or one large 2 small criteria in the patient.A Dubious Diagnosis is made by the presence of one large and one small criterion. The presence of a mutation in the mefv gene plays a very important role in making an accurate diagnosis.

Treatment
The drug of choice for the treatment of FMF is the drug colchicine.The drug is given for two purposes: 1.In order to reduce and even completely eliminate the severity and frequency of seizures. 2.To prevent amyloid deposition on the kidneys and other organs. Therefore, the drug is used as a preservative throughout life, regardless of whether there are seizures or not.Only in times of seizures is the use of medication of no use. Colchicine 0.5 mg is used 2 times a day in children and 3 times a day in adults. In children under the age of five, it is started with1 times a day, and as the child grows, the dose is also increased. In patients whose seizures cannot be fully controlled despite taking 3 times a day, the dose can be increased up to 4 times a day. In rare cases, higher doses can also be checked.The most common side effects of colchicine are diarrhea, mild abdominal pain, and nausea. In patients with such problems, the dose is increased more slowly and after a while they are lost. In some patients, muscle, liver tests may have deviations from normal, decreases in blood cells may be seen. However, they are rare in oldukca, most often occurs in patients with kidney involvement FMFL.Patients using colchicine should be monitored every 4-6 months by performing a general analysis of blood, muscle , liver enzymes, inflammatory agents, and urinalysis. In this way, it is assessed whether there is a drug-dependent side effect as well as whether the inflammation is under control.In those who use colchicine correctly, very severe seizures are rarely seen. There is no fully effective treatment for seizures. The seizures mostly last 1-3 days and go away,whether he uses a pain reliever or not.The important thing is to prevent seizures from occurring. And the main way for this is the use of colchicine in time.Colchicine can also be used in pregnant women and during lactation.In patients without colchicine efficacy, rilonacept,anakinra, canakinumab, which are IL 1 inhibitors, are used in treatment.

Forecast
Patients can continue to live normally if treated properly. Some children may need psychological support to continue their normal life with a chronic illness that is treated for life. Sometimes patients may develop pelvic and abdominal adhesions as complications of long-term disease,which can result in short intestinal obstruction.The most severe complication of the disease is the development of amyloidosis in the kidneys.In addition to these, in rare cases, patients may also develop azoospermia and infertility.

Figures

Keywords

• Mediterranean disease
• periodic disease
• Colchicine
• Amyloidosis
• FMF

References

Article Info:

Publication history

Published: 25.Feb.2025

DOI: https://doi.org/10.28942/ajim.v2i1y2025.27

Copyright

© 2022-2025 Azerbaijan İnternal Medicine Society. Published by "Uptodate In Medicine" health sciences publishing. All rights reserved.

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