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doi:10.5578/tt.1445
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Yalnız pulmoner bulguları olan ailesel Akdeniz ateşi; genetik analizle erken tanı

Familial Mediterranean fever with pulmonary manifestations alone;
early diagnosis with genetic analysis

Fidan SEVER1, Mustafa SEVER2, Salahattin SANAL3, Murat YALÇIN3, Afig BERDELİ4


1 Department of Chest Diseases, Faculty of Medicine, Sifa University, Izmir, Turkey,

2 Department of Emergency Medicine, Faculty of Medicine, Ege University, Izmir, Turkey,

3 Department of Internal Medicine, Faculty of Medicine, Sifa University, Izmir, Turkey,

4 Department of Medical Genetic, Faculty of Medicine, Sifa University, Izmir, Turkey.

SUMMARY

Familial Mediterranean fever with pulmonary manifestations alone; early diagnosis with genetic analysis

Painful pleural effusion and fever are the only presenting clinical features in 5-10% of patients with familial Mediterranean fever (FMF). We report the results of genetic analysis that have confirmed the diagnosis of FMF in six patients who presented with fever and pleuritic pain alone. At time of presentation, all six patients received antibiotic treatment for suspected infectious etiology following routine laboratory and microbiologic evaluation. Gene analysis was performed when other diagnostic studies had failed to uncover the etiology and patients did not respond to conventional treatment. Mutation analysis for MEFV gene performed from genomic DNA by the direct DNA sequence method. Half of the patients were male. Five were older than 50, one was 33 years old. All of the patients had fever and pleuritic pain; none had the typical abdominal symptoms. Erythrocyte sedimentation rates and C-reactive protein levels were high. Pericardial effusion was discovered in three patients. Genetic analysis confirmed; R202Q/R202R, E148V/E148E, R314R, E474E, Q476Q, D510D, E148Q/E148E heterozygote polymorphisms with and M694V/M694V mutations were determined on the MEFV gene. In five patients an improvement has been observed with colchicine therapy. In one patient steroid treatment was needed because of no response to colchicine and clinical deterioration. Rapid improvement was observed in this case with steroid therapy. But after cessation of steroid therapy new flare developed that responded to new colchicine therapy. In patients who present with pleuritic chest pain and fever without an identifiable etiology, genetic analysis help making the diagnosis of FMF, especially in certain ethnic populations where FMF is relevant. This should help patients receive specific treatment without unnecessary delay. Thus, by making early diagnosis and timely delivery of treatment, disease progression is delayed and development of secondary amyloidosis avoided.

Key Words: Familial Mediterranean fever, pulmonary manifestations, genetic analysis.

Received: 07/08/2012 - Accepted: 03/10/2012

Address for Correspondence:

Dr. Fidan SEVER,

Şifa Hastanesi Sanayi Caddesi

No: 7 Bornova 35100 İZMİR - TURKEY

e-mail: fidanyildiz@yahoo.com

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