Extensive Thrombosis in a Patient with Familial Mediterranean Fever, Despite Hyperimmunoglobulin D State in Serum - First Adult Case in Korea
A 22-yr old man was referred to our hospital on February 17, 2012 due to fever and arthalgia which started 2 days prior to admission. He had a history of recurrent episodes of fever associated with arthalgia lasting 5 days with 5-6 month intervals which started at the age of 2. Fever would subside spontaneously or with the use of antipyretics.\nOn admission he showed a fever of 40℃ with abdominal pain and arthalgia in both knees. Laboratory findings on admission showed mild leukopenia and thrombocytopenia (white blood cell count of 2,650/µL and platelet count of 102,000/µL). Erythrocyte sedimentation rate was normal but C-reactive protein was highly elevated at 27.88 mg/dL.\nChest and abdomen computed tomography (CT) was performed as part of the diagnostic work up for fever of unknown origin. Chest CT showed no specific findings while abdomen CT showed thrombosis in portal vein (PV) and superior mesenteric vein (SMV) with splenomegaly. On the 10th hospital day, the patient complained of left upper quadrant pain and 3D angio CT showed total thrombosis of splenic vein with partial thrombosis of proximal SMV, main PV and intrahepatic both PV with small amount of ascites (). Bone marrow biopsy and lumbar puncture results were normal.\nConsidering the patient's history of periodic fever with no familial history, autosomal recessive periodic fever syndromes such as FMF and Hyperimmunoglobulin-D syndrome (HIDS) were suspected. IgG, IgA, and IgM were all in the normal range while IgD was elevated at 39.2 mg/dL. The patient also satisfied the three major criteria (fever, abdominal pain, joint pain) of the Tel-Hashomer criteria. To verify the diagnosis, DNA analysis of the MVK and MEFV gene was performed. MVK for HIDS was negative while 3 mutations (p.Glu148Gln, p.Pro369Ser, p.Arg408Gln) were identified in the MEFV gene for FMF. After diagnosis of FMF, colchine was prescribed and the patient is currently without recurrent fever.