alexa Sonographic assessment of spleen size in Turkish migrants with Familial Mediterranean fever in Germany.
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Genetic Syndromes & Gene Therapy

Author(s): Ornek A, Kurucay M, Henning BF, Pagonas N, Schlottmann R,

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Abstract OBJECTIVES: Familial Mediterranean fever (FMF) can be associated with splenomegaly. Prospective quantitative data are lacking. We performed a sonographic assessment of spleen size in patients with FMF and healthy control participants to assess its diagnostic value. METHODS: Patients with FMF according to the criteria of Livneh et al (Arthritis Rheum 1997; 40:1879-1885) who were in an asymptomatic interval and control participants were prospectively included in this study in Germany and underwent sonographic measurement of the spleen as well as a structured interview and a physical examination. Patients and controls were Turkish migrants. RESULTS: Thirty-six patients and 27 controls were included. Patients and controls did not differ significantly in age (mean ± SD, 34.8 ± 9.7 versus 33.3 ± 10.0 years, respectively; P = .56), sex, height, weight, or body mass index (26.7 ± 4.7 versus 26.1 ± 4.3 kg/m(2); P = .63). Spleen size was greater in patients than controls in width (4.3 ± 1.0 versus 3.7 ± 0.7 cm; P = .008) and also length (12.1 ± 1.9 versus 10.5 ± 1.4 cm; P = .001). Twenty-six of 36 patients (72.2\%) had a history of appendectomy compared to 3 of 27 controls (11.1\%; P < .001). The combination of an enlarged spleen (length >11 cm and/or width >4 cm) gave specificity of 100\% (95\% confidence interval, 87\%-100\%) and a positive predictive value of 100\% (95\% confidence interval, 78\%-100\%) for the diagnosis of FMF in our study. CONCLUSIONS: Spleen size as evaluated by sonography is larger in patients with FMF compared to healthy controls. Most patients with FMF included in this study had undergone appendectomy. Familial Mediterranean fever should be considered as a differential diagnosis in Turkish migrants in Germany if the spleen is enlarged and a history of appendectomy is reported. © 2014 by the American Institute of Ultrasound in Medicine. This article was published in J Ultrasound Med and referenced in Journal of Genetic Syndromes & Gene Therapy

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