Abstract: TH-PO513
AA Amyloidosis Unveiling Familial Mediterranean Fever in a 65-Year-Old Armenian Man with Arthritis and Immunosuppression History
Session Information
- Genetic Kidney Diseases: Genotypes and Phenotypes in Cases
October 24, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Yamada, Sofia, Brigham and Women's Hospital Department of Medicine, Boston, Massachusetts, United States
- Parada, Xavier F., UMass Memorial Medical Center, Worcester, Massachusetts, United States
- Pasala, Sphoorthy, Brigham and Women's Hospital Department of Medicine, Boston, Massachusetts, United States
- Anumolu, Rajesh, Brigham and Women's Hospital Department of Medicine, Boston, Massachusetts, United States
- Alenizi, Saif A., Brigham and Women's Hospital Department of Medicine, Boston, Massachusetts, United States
Introduction
Familial Mediterranean Fever (FMF) affects certain ethnicities with a higher incidence in males. Caused by MEFV gene mutation, leading to recurrent inflammation. Arthritis occurs in 75% of patients with renal amyloidosis as a complication due to elevated protein production. While colchicine is the mainstay treatment, 5 to 10% of patients may be refractory or encounter adverse effects. Biologic agents serve as a secondary therapy but their efficacy can diminish necessitating alternative treatments
Case Description
A 65 year old Armenian man with a 35 year past medical history of psoriatic arthritis treated with extensive immunosuppressive therapies with refractory symptoms, thalassemia minor, hypertension, and coronary artery disease attributed to JAK inhibitors, status post bilateral total knee arthroplasty 25 years ago. Was admitted for pneumonia and prerenal acute kidney injury with nephrotic range proteinuria. An elevated CH50 suggested hyperfunctioning complements and acute inflammation. Differential diagnoses included infection related glomerulonephritis (IRGN), and adalimumab nephrotoxicity. Kidney biopsy revealed secondary amyloidosis and genetic testing identified heterozygosity for FMF (p.Met694Val and p.VAl726Ala) Classic FMF episodes were absent. Family history revealed possible FMF cases (sister's recurrent abdominal and jaw pain, and a daughter with undiagnosed digestive issues) His father had chronic kidney disease requiring hemodialysis. Treatment with colchicine and IL-1β inhibitors normalized CRP levels and reduced proteinuria maintaining stable renal function
Discussion
While there have been rare cases of AA amyloidosis associated with psoriatic arthropathy, AA amyloidosis is a recognized complication of FMF. Our case reveals an autosomal recessive FMF with two pathogenic variants: p.Val726Ala (mild) and p.Met694Val (severe). Vigilance for thrombotic events is essential due to nephrotic syndrome. Early FMF detection prevents organ damage. Secondary amyloidosis prompted an investigation revealing undiagnosed FMF. Management involves colchicine and IL-1β inhibitors like canakinumab. Adalimumab's efficacy in FMF associated arthritis is noted though previous use on this patient’s response was poor. Further research is necessary to refine therapeutic strategies in refractory cases