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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Persistent fever and destructive arthritis caused by dialysis-related amyloidosis: A case report
Kotaro Matsumoto1, Jun Kikuchi, Yuko Kaneko
1Division of Rheumatology Division of Nephrology, Department of Internal Medicine Department of Diagnostic Pathology, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.
Rationale:
Dialysis-related amyloidosis (DRA) can present rheumatic manifestations in patients on long-term hemodialysis. Typical articular symptoms with DRA involve carpal-tunnel syndrome, effusion in large joints, spondyloarthropathy, or cystic bone lesions, which are usually with non-inflammatory processes.
Patient Concerns:
A 64-year-old man on hemodialysis for >30 years was admitted because of intermittent fever, polyarthritis, and elevated serum C-reactive protein (CRP) level, which was continuous for 2 years. Several antibiotics were ineffective for 3 months before his admission. On physical examination, joint swelling was observed at bilateral wrists, knees, ankles, and hip joints. Laboratory tests revealed elevation of serum inflammatory markers and β2-microglobulin (β2-MG). Synovial fluid showed predominant infiltration of polymorphonuclear leukocytes and the increase of β2-MG level.
Diagnosis:
Significant deposition of β2-MG with inflammatory cell infiltration was found in biopsied samples from synovium, skin, and ileum.
Interventions:
We decided to switch to the hemodialysis column with membrane that can effectively absorb β2-MG in circulation.
Outcomes:
The relief of symptoms and a decrease of CRP level by changing the membrane lead to the final diagnosis of DRA.
Lessons:
Our case demonstrates that DRA arthropathy can be inflammatory and destructive, and also develop systemic inflammatory signs and symptoms. In such cases, aggressive absorption of β2-MG in circulation might help the amelioration of symptoms.
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