الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Systemic autoinflammatory syndromes (SAIS) are a heterogeneous group of disorders that result from a genetic defect of the innate immune system and are characterized by seemingly unprovoked antigen independent pathologic inflammation. SAIS usually lack the tissue specific autoantibodies and the autoreactive T lymphocytes, this is a major differentiating point between autoinflammatory and autoimmune diseases.
Familial Mediterranean fever (FMF) is the prototype of systemic autoinflammatory syndromes. It is the most common of the hereditary periodic fever syndromes affecting mainly the ethnic groups originating from Mediterranean basin. It is characterized by recurrent attacks of fever, serositis, arthritis, and erysipelas-like skin lesions and its most significant complication is renal amyloidosis that progresses to nephrotic syndrome and end-stage renal disease.
This study was conducted on a total of 147 cases diagnosed as FMF at the Autoinfammatory Clinic of Alexandria University Children’s Hospital from January 2015 to December 2020. All the included cases were later reassigned to their specific category that matches their clinical, laboratory and molecular characteristics and all their data were registered. The study aimed at studying the hematological manifestations in FMF patients and the effect of colchicine treatment on these hematological changes.
The most common presenting symptoms were fever and abdominal pain and the least common symptom was cellulitis like rash. MEFV gene mutation analysis by polymerase chain reaction (PCR) detected mutations in 118 cases while no mutation could be detected in 27 cases. The most commonly detected mutations p.M694I, E148Q, V762A, and p.M680I (G/A) with an allele frequency of 30.5%, 22.0%, 18.8%, and 9.7%, respectively. Only one case of the studied FMF group developed renal amyloidosis.
The current study revealed significantly higher mean erythrocyte sedimentation rate (ESR) values, higher mean C reactive protein (CRP) values, and higher mean serum amyloid A (sAA) values in newly diagnosed patients compared to those who received colchicine treatment.
In the studied patients, hepatosplenomegaly was present in 13 cases (8.8%) followed by pallor in 5 cases, while purpura was not detected in any of the cases.
In the present study, the results of CBC showed significant higher mean hemoglobin (Hb) concentration, higher mean hematocrit (HCT), higher mean corpuscular volume (MCV), and higher mean corpuscular hemoglobin (MCH) in patients receiving colchicine therapy than in newly diagnosed patients, while there was significant higher number of total anemic cases present in newly diagnosed FMF patients before starting treatment.
On the other hand, there were significant higher mean white blood cells (WBCs) count, higher mean absolute neutrophil count (ANC), and higher mean neutrophil-lymphocyte ratio (NLR) in newly diagnosed FMF patients in comparison to those who received colchicine treatment.
The present study revealed no significant difference regarding platelets count or mean platelet volume between newly diagnosed patients or those on colchicine therapy