Vol 9, No 4 (2018)
Case report
Published online: 2019-03-06
Amyloidosis of the urinary bladder — case report and literature review
Hematologia 2018;9(4):330-335.
Abstract
Amyloidosis is a heterogeneous group of protein misfolding diseases caused by extracellular deposition
of abnormal beta-fibrils resistant to proteolysis. The most common type is light-chain amyloidosis
(AL amyloidosis) which can be systemic or localized. Localized amyloidosis mostly affects the
respiratory airways, genitourinary tract, gastrointestinal system or skin. We present diagnostic and
therapeutic approach in a 25-year-old female patient diagnosed with urinary bladder amyloidosis.
The main complaint was macroscopic hematuria occurring periodically for 2 years. Abdominal
and pelvic computed tomography revealed single 25-mm-thick soft-tissue lesion of the left bladder
wall. Histopathological examination of the lesion biopsied during transurethral resection of bladder
tumor showed amyloid deposits with strong positive immunostaining for transthyretin, weaker for
light chain (AL) and weak for serum amyloid A (AA). Serum protein electrophoresis and immunofixation
did not reveal monoclonal protein. X-rays of flat bones presented without lytic lesions. There
were no amyloid deposits both in trephine biopsy and subcutaneous fat biopsy. Primary systemic
AL amyloidosis was excluded. According to the results of (99m)Tc-DPD scintigraphy and genetic
analysis of transthyretin gene (TTR), the ATTRm amyloidosis was also excluded. Consultative histopathological
analysis of the bladder biopsy made in the National Amyloidosis Center in London
revealed amyloid deposits stained to lambda light chains, confirming the diagnosis of localized AL
lambda bladder amyloidosis. The patient was qualified for surgical treatment. Partial resection of
the bladder wall with no need for left ureter transplantation was performed. Primary localized bladder
amyloidosis is a very rare entity. In the diagnostic approach the most important is the exclusion
of primary systemic amyloidosis due to a completely different treatment method.
Keywords: AL amyloidosisurinary bladderlocalized amyloidosis
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