Familial Mediterranean Fever
Conditions
Brief summary
Familial Mediterranean fever (FMF ,recurrent polyserositis ,periodic disease) is an autosomal recessive auto inflammatory disease which primarily affect population surrounding the Mediterranean basin (Arabs , Turks ,Armenians, Jews ).Despite its striking symptoms pattern FMF was first described as distinct entity only in 1945. It is characterized by recurrent attacks of fever , peritonitis ,pleurisy , arthritis , or erysipelas like skin disease. The most dangerous complication of this disease is secondary amyloidosis . FMF diagnosis is mainly clinical, and the genetic testing is indicated to support it . Uncommonly, amyloidosis may develop in individuals carrying two Familial Mediterranean fever gene (MEFV ) mutations without overt clinical symptoms of FMF, a condition designated as phenotype II. Furthermore, two MEFV mutations may be harbored without signs or symptoms of FMF nor of reactive amyloidosis. This 'silent' homozygous or compound heterozygote state is termed phenotype III.
Interventions
DIAGNOSTIC_TESTCBC with differential ,ESR ,CRP, Amyloid level , FMF gene
leucocytosis , high ESR and CRP ,amyloid level indicates inflammation positive FMF gene indicates having the disease .
Sponsors
Sohag University
Study design
Allocation
RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
1 Days to 18 Years
Healthy volunteers
No
Inclusion criteria
A- all children diagnosed as FMF according to Tel hashomer criteria aged below 18 years: The presence of at least 2 of the following 5 criteria after exclusion of other causes can diagnose FMF with high sensitivity: 1. Fever axillary temperature of \>38ᵒC, 6-72 h of duration, ≥3 attacks 2. Abdominal pain 6-72 h of duration ≥3 attacks 3. Chest pain 6-72 h duration≥ 3 attacks 4. Arthritis 6-72 h duration ≥3 attacks, oligoarthritis 5. Family history of FMF\*(11) B-sisters and brothers of a child with FMF with clinical or subclinical manifestation of FMF.
Exclusion criteria
1. Children with other auto inflammatory diseases, or with other diseases. 2. Persons above 18 years old.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| CBC | 12 month | leucocytosis |
| amyloid level | 12 month | high in untreated patients |
| FMF gene | 12 month | positive or negative |
Countries
Egypt
Contacts
Primary Contactnahla a fawy, resident
Backup Contactashraf m redwan, assisstant professor
Outcome results
None listed