Extensive Thrombosis in a Patient with Familial Mediterranean Fever, Despite Hyperimmunoglobulin D State in Serum: First Adult Case in Korea.
10.3346/jkms.2013.28.2.328
- Author:
Kowoon JOO
1
;
Won PARK
;
Moon Hyun CHUNG
;
Mie Jin LIM
;
Kyong Hee JUNG
;
Yoonseok HEO
;
Seong Ryul KWON
Author Information
1. Division of Rheumatology, Department of Internal Medicine, Inha University Hospital, Incheon, Korea. rhksr@inha.ac.kr
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
Familial Mediterranean Fever;
Thrombosis;
Immunoglobulin D;
Hereditary Autoinflammatory Diseases
- MeSH:
Abdominal Pain/etiology;
Arthralgia/etiology;
Cytoskeletal Proteins/genetics/metabolism;
Familial Mediterranean Fever/complications/*diagnosis;
Humans;
Immunoglobulin D/*blood;
Male;
Mesenteric Veins;
Mevalonate Kinase Deficiency/complications/*diagnosis;
Mutation;
Portal Vein;
Republic of Korea;
Splenic Vein;
Tomography, X-Ray Computed;
Venous Thrombosis/complications/*diagnosis;
Young Adult
- From:Journal of Korean Medical Science
2013;28(2):328-330
- CountryRepublic of Korea
- Language:English
-
Abstract:
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever accompanied by peritonitis, pleuritis, arthritis, or erysipelas-like erythema. It is known to occur mainly among Mediterranean and Middle Eastern populations such as non-Ashkenazi Jews, Arabs, Turks, and Armenians. FMF is not familiar to clinicians beyond this area and diagnosing FMF can be challenging. We report a 22-yr old boy who presented with fever, arthalgia and abdominal pain. He had a history of recurrent episodes of fever associated with arthalgia which would subside spontaneously or by antipyretics. Autosomal recessive periodic fever syndromes were suspected. Immunoglobulin D (IgD) level in the serum was elevated and DNA analysis showed complex mutations (p.Glu148Gln, p.Pro369Ser, p.Arg408Gln) in the MEFV gene. 3D angio computed tomography showed total thrombosis of splenic vein with partial thrombosis of proximal superior mesenteric vein, main portal vein and intrahepatic both portal vein. This is a case of FMF associated with multiple venous thrombosis and elevated IgD level. When thrombosis is associated with elevated IgD, FMF should be suspected. This is the first adult case reported in Korea.
