Giant cell arteritis (GCA) is a common systemic vasculitis with an unknown etiology. It mainly affects people older than 50 years of age and often presents with symptoms such as headache, jaw claudication, visual loss, polymyalgia rheumatica and increased erythrocyte sedimentation rate (ESR). Established blindness is irreversible if the steroid treatment is not administered within a few days. Here, we report a case of GCA in a patient with a normal ESR whose left eye perceived just light at the initiation of treatment. Immediately prior to the combined treatment with high dose oral steroids and cyclophosphamide, the ESR level had increased to 80 mm/h and the vision improved after the combined treatment four months later.
Administration, Oral ; Cyclophosphamide/administration & dosage/*therapeutic use ; Dose-Response Relationship, Drug ; Drug Therapy, Combination ; Female ; Human ; Immunosuppressive Agents/therapeutic use ; Middle Aged ; Recovery of Function ; Steroids/administration & dosage/*therapeutic use ; Temporal Arteritis/*complications/*drug therapy ; Vision Disorders/*etiology/*physiopathology

BACKGROUND/AIMS: Chronic arthritis of familial Mediterranean fever (FMF) involves weight-bearing joints and can occur in patients without a history of acute attack. Our aim was to investigate a possible causal relationship between FMF and osteoarthritis in a population in which FMF is quite common. METHODS: Patients with late stage primary osteoarthritis were enrolled, and five MEFV gene mutations were investigated. The frequency of MEFV gene mutations was compared among patients with osteoarthritis and a previous healthy group from our center. RESULTS: One hundred patients with primary osteoarthritis and 100 healthy controls were studied. The frequency of MEFV gene mutations was significantly lower in the osteoarthritis group (9% vs. 19%). M694V was the most frequent mutation (5%) in the osteoarthritis group, whereas in the control group, E148Q was the most common (16%). In subgroup analyses, the mutation frequency of patients with hip osteoarthritis was not different from that of patients with knee osteoarthritis and controls (7.1%, 9.7%, and 19%, respectively). There were no differences among the three groups with respect to MEFV gene mutations other than E148Q (8.1% vs. 3.6%). E148Q was significantly lower in the osteoarthritis group than in the controls (16% vs. 1%), although the mutations did not differ between patients with knee osteoarthritis and controls. CONCLUSIONS: In a population with a high prevalence of MEFV gene mutations, we did not find an increased mutation rate in patients with primary osteoarthritis. Furthermore, we found that some mutations were significantly less frequent in patients with osteoarthritis. Although the number of patients studied was insufficient to claim that E148Q gene mutation protects against osteoarthritis, the potential of this gene merits further investigation.
Adolescent ; Adult ; Case-Control Studies ; Chi-Square Distribution ; *Cytoskeletal Proteins ; DNA Mutational Analysis ; Familial Mediterranean Fever/diagnosis/epidemiology/*genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; *Mutation ; Osteoarthritis, Hip/diagnosis/epidemiology/*genetics/surgery ; Osteoarthritis, Knee/diagnosis/epidemiology/*genetics/surgery ; Phenotype ; Risk Factors ; Turkey/epidemiology ; Young Adult