Edemigency syndrome as initial presentation of AL form renal amyloidosis: case report
Síndrome edemigência como apresentação inicial de amiloidose renal forma AL: relato de caso
Palavras-chave:
Amyloid, Kidney Diseases, Immunoglobulin Light ChainsResumo
Introduction: Immunoglobulin light chain (AL) amyloidosis is the most common type of amyloidosis, mainly affecting the heart, kidneys and central nervous system. Objective: To report a case of AL-form renal amyloidosis in a patient with initial clinical presentation of edemigenic syndrome. Case report: A 46-year-old man presented with generalized edema and dyspnea. An investigation began into the possible etiologies of edemigenic syndrome, in which renal etiology was the main hypothesis. Protein electrophoresis showed a peak in alpha 2 globulin and serum immunofixation with the presence of a monoclonal lambda band (light chain), then abdominal fat pad biopsy revealed amyloid deposits in the dermis and subcutaneous cellular tissue, confirming the hypothesis of primary amyloidosis with renal involvement. A renal biopsy was performed, which showed amyloid deposits in the glomerular compartment. Bortezomib was started, but there was a progressive worsening of renal function, leading to renal replacement therapy before starting the medication. Conclusion: AL amyloidosis is a progressive disease in which early diagnosis is essential to avoid irreversible losses of organ function.
Downloads
Referências
BELLOTTI, Vittorio et al. The workings of the amyloid diseases. Annals of medicine, v. 39, n. 3, p. 200-207, 2007.
BENSON, Merrill D. et al. Amyloid nomenclature 2020: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid, v. 27, n. 4, p. 217-222, 2020.
DITTRICH, Tobias et al. Prognosis and staging of AL amyloidosis. Acta haematologica, v. 143, n. 4, p. 388-400, 2020.
FERNÁNDEZ DE LARREA, Carlos et al. A practical approach to the diagnosis of systemic amyloidoses. Blood, The Journal of the American Society of Hematology, v. 125, n. 14, p. 2239-2244, 2015.
GERTZ, Morie A. Immunoglobulin light chain amyloidosis: 2020 update on diagnosis, prognosis, and treatment. American journal of hematology, v. 95, n. 7, p. 848-860, 2020.
GILLMORE, Julian D. et al. Guidelines on the diagnosis and investigation of AL amyloidosis. British journal of haematology, v. 168, n. 2, p. 207-218, 2015.
GURUNG, Reena; LI, Tingting. Renal Amyloidosis: Presentation, Diagnosis, and Management. The American Journal of Medicine, v. 135, p. S38-S43, 2022.
KE, Pu Chun et al. Half a century of amyloids: Past, present and future. Chemical Society Reviews, v. 49, n. 15, p. 5473-5509, 2020.
KYLE, Robert A. Amyloidosis: a convoluted story. British journal of haematology, v. 114, n. 3, p. 529-538, 2001.
MAHMOOD, Shameem et al. Update on treatment of light chain amyloidosis. haematologica, v. 99, n. 2, p. 209, 2014.
MERLINI, Giampaolo et al. Systemic immunoglobulin light chain amyloidosis. Nature reviews Disease primers, v. 4, n. 1, p. 1-19, 2018.
MILANI, Paolo; MERLINI, Giampaolo; PALLADINI, Giovanni. Light chain amyloidosis. Mediterranean journal of hematology and infectious diseases, v. 10, n. 1, 2018.
PAPA, Riccardo et al. Two types of systemic amyloidosis in a single patient. Amyloid, v. 27, n. 4, p. 275-276, 2020.
PAPA, Riccardo; LACHMANN, Helen J. Secondary, AA, amyloidosis. Rheumatic Disease Clinics, v. 44, n. 4, p. 585-603, 2018.
QUOCK, Tiffany P. et al. Epidemiology of AL amyloidosis: a real-world study using US claims data. Blood advances, v. 2, n. 10, p. 1046-1053, 2018.
RYŠAVÁ, Romana. AL amyloidosis: advances in diagnostics and treatment. Nephrology Dialysis Transplantation, v. 34, n. 9, p. 1460-1466, 2019.
SELDIN, David C.; SANCHORAWALA, Vaishali. Adapting to AL amyloidosis. Haematologica, v. 91, n. 12, p. 1591-1595, 2006.
VAXMAN, Iuliana; GERTZ, Morie. When to suspect a diagnosis of amyloidosis. Acta Haematologica, v. 143, n. 4, p. 304-311, 2020.
WECHALEKAR, Ashutosh D.; HAWKINS, Philip N.; GILLMORE, Julian D. Perspectives in treatment of AL amyloidosis. British journal of haematology, v. 140, n. 4, p. 365-377, 2008.
