Juvenile psoriatic arthritis carrying familial Mediterranean fever gene mutations in a 14-year-old Turkish girl.
Juvenile psoriatic arthritis (JPsA) is characterized by asymmetric arthritis of big and small joints, enthesitis, dactylitis, psoriatic skin lesions and nail pitting. Investigators agree that JPsA is a relatively common chronic arthropathy of childhood that differs clinically, serologically, and genetically from both juvenile idiopathic arthritis and juvenile ankylosing spondylitis. Familial Mediterranean fever (FMF) is a multisystemic autosomal recessive disease occasionally accompanied by sacroiliitis. This is characterized by recurrent self-limited attacks of fever and accompanying abdominal, chest and arthricular pain. We present a 14-year-old Turkish girl with JPsA and carrying FMF gene mutations. In this patient, JPsA was diagnosed according to her physical, laboratory and skin biopsy findings and a treatment with methotrexate and sulfasalazine was started. As an inadequate clinical and laboratory response was obtained after the first month of therapy, the patient was investigated for FMF, and was diagnosed by molecular analyses of related gene (E148Q heterozygous/V726A homozygous mutation) besides clinical findings. After 2 weeks of the colchicine treatment, symptoms of the patient regressed and acute phase reactants decreased. To our knowledge, this is the first case presenting with psoriatic arthritis and FMF gene mutations together and responds to colchicine, methotrexate and sulfasalazine dramatically in clinical and laboratory findings. This case has been presented to remind that cases with psoriatic arthritis may also carry mutations in the MEFV gene.
Yeniay
Betul Sozeri
BS
Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
Karaca
Neslihan Edeer
NE
Yuksel
Seciye Eda
SE
Midyat
Levent
L
Kutukculer
Necil
N
D000293:Adolescent; D015535:Arthritis, Psoriatic / Q000150:complications / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D000071198:Pyrin
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin