Relationship between prognosis and frequency of familial mediterranean fever gene mutations in children with henoch-schonlein purpura

Henoch-Schönlein purpura (HSP) is the most common acute, systemic and small vessel vasculitic syndrome and it is characterized by nontrombocytopenic purpura, artritis, abdominal pain, glomerulonephritis. The relationship between HSP and FMF is reported in various studies. To prevent amiloidosis which is the most common complication of FMF, early diagnosis is important. MEFV gene is an important sign in diagnosis of FMF. We studied the frequency of MEFV gene mutation in children with HSP and relationship with prognosis.80 children with HSP with a follow up of at least 6 months in pediatric nephrology and rheumatoloy clinic between January 2007 and November 2011 are included in our study and 22 common MEFV gene mutation is checked.42(52,5%) of our patients are male, 38(47,5%) are female and the ratio of male to female is 1,1. Age of our patients varies from 2 to 16 and have a mean age of 8,84 ± 3,33 years. All of the patients have a purpuric rash, 64 patients (80%) have a artritis or arthralgia, 59 patients (73%) have a gastrointestinal system problem and 28 patients (35%) have a renal disease.Mediterranean Fever gene was seen more common in patients with HSP regarding normal population. At least one MEFV mutation was seen in 22 patients (27,5%). In 3 patients (3,75%) one homozygot mutation, in 14 patients (17,5%) one heterozygot mutation, in 5 patients (6,3%) double heterozygot mutation was found. No significant relationship was found between a special mutation in MEFV mutations and systemic involvement in HSP. MEFV mutation was found with higher rate in patients bigger then 10 years of age and in patients with several abdominal pain. In our study GIS and renal involvement was found with a higher rate in patients with MEFV mutation but it is not statistically significant. In opposition to other studies, in our study joint involvement was found lower in patients with MEFV mutation.As a result concomitancy of HSP and FMF, at first evaluation of every children with HSP, FMF should be considered and should be questioned. Detailed history and clinical evaluation of patients with HSP, MEFV gene analysis can be done for the early diagnosis of FMF. This approach will provide us an early diagnosis and treatment of FMF and so will help us to prevent the most important complication FMF, amiloidosis.Key words: Henoch-Schonlein Purpura (HSP), Familial Mediterranean Fever (FMF), MEFV