AA Amyloidosis in a Patient with Common Variable Immunodeficiency Disease; Report of a Case
Rola M Saleeb, Jason Karamchandani, Serge Jothy, Hasan Ghaffar. University of Toronto, Toronto, ON, Canada; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON, Canada
Background: Common variable immunodeficiency disease (CVID) is a primary immunodeficiency disease caused by failure of B cells to differentiate into immunoglobulin secreting plasma cells resulting in hypogammaglobulinemia and recurrent sinopulmonary pyogenic infections. AA amyloid fibrils are derived from serum amyloid-associated proteins synthesized in response to systemic inflammatory conditions and deposited in various tissues including the kidney. There are only three cases reported in literature with CVID associated with severe systemic AA amyloidosis.
Design: A 40 year old male patient with a history of recurrent pneumonia was found to have hypogammaglobulinemia in 2005 during a severe urticaria workup. He was lost to follow up and 7 years later developed nephrotic range proteinuria, gastrointestinal symptoms and lymph node enlargement. That led to further investigations and multiple system biopsis.
Results: A renal biopsy revealed AA amyloidosis confirmed by immuno fluorescence. Biopsies of the gastrointestinal tract revealed amyloidosis and absent plasma cells on CD 138 immunohistochemical stain. A lymph node biopsy showed follicular hyperplasia, absent plasma cells on CD138 and kappa, lambda stains and focal vascular amyloid deposition.
Conclusions: Secondary AA amyloidosis is extremely rare in CVID and may be related to chronic and recurrent infections in this group of patients. In our case the pathological findings prompted further investigations leading to a conclusive diagnosis of CVID, highlighting the importance of further analyzing CVID at the pathological level.
Category: Kidney (does not include tumors)
Monday, March 4, 2013 1:00 PM
Poster Session II # 232, Monday Afternoon