Abstract C066: AA amyloidosis secondary to common variable immunodeficiency disease: A rare case report
Authors: Khan Aliya M. , Patterson Kiersten , Kopec Ashely , Konwufine Lourdes , Hepgur Mehmet 
Published: September 2024

Abstract: Common Variable Immunodeficiency (CVID) is a primary antibody deficiency disorder characterized by hypogammaglobulinemia, recurrent infections, and impaired B cell differentiation. Secondary amyloidosis, particularly renal amyloidosis, is a rare complication of CVID. We present the case of a 63-year-old male with CVID who developed renal amyloidosis. Despite IVIG treatment, he experienced complications including pneumonia and angioedema. Management involved IVIG replacement therapy and addressing renal amyloidosis. This case emphasizes the importance of considering secondary amyloidosis in CVID patients. Introduction: CVID is characterized by hypogammaglobulinemia and recurrent infections. Late diagnoses are common. Secondary amyloidosis, particularly AA amyloidosis, is a rare complication of CVID. We present a case of a 63-year-old male with CVID who developed renal amyloidosis. Case Presentation: 63 yr old male with a history of CVID, presented with shortness of breath, cough, and lethargy. Laboratory findings revealed leukocytosis, anemia, and elevated BUN and creatinine. Despite IVIG treatment, the patient developed lower extremity edema and angioedema during hospitalization. Imaging and cultures indicated pneumonia with Pseudomonas aeruginosa. The patient, on hemodialysis, underwent a kidney biopsy confirming AA amyloidosis. Hospital Course and Management: Management involved treating pneumonia, angioedema, and addressing renal amyloidosis. The patient received IVIG replacement therapy and medications for angioedema. He underwent hemodialysis for renal failure. Discussion: In patients with Common Variable Immunodeficiency (CVID), secondary amyloidosis, particularly AA amyloidosis, can develop due to chronic inflammation. This condition involves the abnormal deposition of protein fibrils in organs, commonly affecting the kidneys. Prompt diagnosis and treatment, including IVIG therapy, are crucial to prevent its progression. The genesis of secondary amyloidosis is rooted in the continuous accumulation of serum amyloid A (SAA), a high-density apolipoprotein synthesized in hepatocytes in response to pro-inflammatory stimuli like interleukin (IL)-6, IL-1, and tumor necrosis factor-alpha. Assessing its prevalence in patients with inflammatory diseases proves challenging due to diagnosis intricacies related to factors such as biopsy location and clinical manifestations versus asymptomatic amyloid deposition. Renal involvement is common, with proteinuria, nephrotic syndrome, and kidney failure being common presentations. Management involves controlling inflammation and immunosuppression. Timely intervention, such as IVIG therapy, can improve outcomes and prevent complications. Conclusion: This case emphasizes the importance of considering secondary amyloidosis in CVID patients. Vigilant monitoring and early diagnosis are essential. Adjusting IVIG replacement therapy frequency may help manage chronic immunosuppression and prevent complications in CVID.

Citation Format: Aliya M. Khan, Kiersten Patterson, Ashely Kopec, Lourdes Konwufine, Mehmet Hepgur. AA amyloidosis secondary to common variable immunodeficiency disease: A rare case report [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C066.