J Korean Med Sci.  2013 Feb;28(2):328-330. 10.3346/jkms.2013.28.2.328.

Extensive Thrombosis in a Patient with Familial Mediterranean Fever, Despite Hyperimmunoglobulin D State in Serum: First Adult Case in Korea

• Joo K
• Park W
• Chung MH
• Lim MJ
• Jung KH
• Heo Y
• Kwon SR

• KMID: 1429215
• DOI: http://doi.org/10.3346/jkms.2013.28.2.328

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.

Keyword

Familial Mediterranean Fever; Thrombosis; Immunoglobulin D; Hereditary Autoinflammatory Diseases

MeSH Terms

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
Cytoskeletal Proteins
Immunoglobulin D

Figure

• 

  Fig. 1 Serial 3D angio CT scans. Arrows in the CT indicate thrombosis in (A) left portal vein (B) main portal vein (C) splenic vein and (D) superior mesenteric vein.

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