Reporte de un caso de amiloidosis sistémica al en un varón de 65 años con diarrea crónica y hemolacria: Report of case of systemic al amyloidosis in a 65-year-old man with chronic diarrhea and hemolacria

Eloy Manerinc Peña - Monge; Katherin Estefania  Ponte Fernandez; Sonia  Indacochea-Cáceda; José  Somocurcio Peralta

doi:10.25176/RFMH.v24i2.6534

Authors

Eloy Manerinc Peña - Monge Departamento de Medicina Interna, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Perú.
Katherin Estefania Ponte Fernandez Departamento de Medicina Interna, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Perú.
Sonia Indacochea-Cáceda Departamento de Medicina Interna, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Perú. Facultad de Medicina, Universidad Ricardo Palma, Lima, Perú.
José Somocurcio Peralta Departamento de Anatomía Patológica, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Perú. Facultad de Medicina, Universidad Nacional Mayor de San Marcos, Lima, Perú.

DOI:

https://doi.org/10.25176/RFMH.v24i2.6534

Keywords:

Immunoglobulin Light-chain Amyloidosis, Diarrhea, Eye Hemorrhage

Abstract

The case of a 65-year-old male with chronic diarrhea, periorbital ecchymosis, and hemolacria is described. Laboratory studies, biopsy, and immunohistochemical analysis were performed to confirm the diagnosis. The dependent variable was the confirmed diagnosis of AL amyloidosis, while the independent variables included clinical symptoms and diagnostic test results. Descriptive techniques were used to analyze the clinical and laboratory data. The patient presented with chronic diarrhea unresponsive to conventional treatment, periorbital ecchymosis, and hemolacria. Diagnostic studies revealed amyloid deposits in the tissues. Immunohistochemical analysis confirmed systemic light chain AL amyloidosis. Specific treatment was initiated, partially improving the symptoms and stabilizing the patient's condition. Systemic AL amyloidosis requires a high index of clinical suspicion for timely diagnosis. The combination of diagnostic studies and early treatment can improve the prognosis of these patients.

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References

Kumar N, Zhang NJ, Cherepanov D, Romanus D, Hughes M, Faller DV. Global epidemiology of amyloid light-chain amyloidosis. Orphanet J Rare Dis. 2022;17(1):278. doi:10.1186/s13023-022-02414-6

Baker KR. Light Chain Amyloidosis: Epidemiology, Staging, and Prognostication. Methodist Debakey Cardiovasc J. 18(2):27–35. doi:10.14797/mdcvj.1070

Elsayed M, Usher S, Habib MH, Ahmed N, Ali J, Begemann M, et al. Current Updates on the Management of AL Amyloidosis. J Hematol. 2021;10(4):147–61. doi:10.14740/jh866

Picken MM. The Pathology of Amyloidosis in Classification: A Review. Acta Haematol. 2020;143(4):322–34. doi:10.1159/000506696

Bal S, Landau H. AL amyloidosis: untangling new therapies. Hematology Am Soc Hematol Educ Program. 2021;2021(1):682–8. doi:10.1182/hematology.2021000305

Zanwar S, Gertz MA, Muchtar E. Immunoglobulin Light Chain Amyloidosis: Diagnosis and Risk Assessment. J Natl Compr Canc Netw. 2023;21(1):83-90. doi:10.6004/jnccn.2022.7077

Gertz MA, Dispenzieri A. Reconocimiento, pronóstico y tratamiento de la amiloidosis sistémica: una revisión sistemática. JAMA. 2020;324(1):79–89. doi:10.1001/jama.2020.5493

McCausland KL, White MK, Guthrie SD, et al. Light Chain (AL) Amyloidosis: The Journey to Diagnosis. Patient. 2018;11(3):207–216. doi:10.1007/s40271-017-0273-5

Stelmach-Gołdyś A, Zaborek-Łyczba M, Łyczba J, Garus B, Pasiarski M, Mertowska P, et al. Physiology, Diagnosis and Treatment of Cardiac Light Chain Amyloidosis. J Clin Med. 2022;11(4):911. doi:10.3390/jcm11040911

Dahiya DS, Kichloo A, Singh J, Albosta M, Wani F. Gastrointestinal amyloidosis: A focused review. World J Gastrointest Endosc. 2021;13(1):1-12. doi:10.4253/wjge.v13.i1.1

Nicol M, Siguret V, Vergaro G, Aimo A, Emdin M, Dillinger JG, et al. Thromboembolism and bleeding in systemic amyloidosis: a review. ESC Heart Failure. 2022;9(1):11–20. doi:10.1002/ehf2.13701

Thompson CA, Kyle R, Gertz M, Heit J, Pruthi R, Pardanani A. Systemic AL amyloidosis with acquired factor X deficiency: a study of perioperative bleeding risk and treatment outcomes in 60 patients. Am J Hematol. 2010;85(3):171–173. doi:10.1002/ajh.21603

Di Nunzio D, Recupero A, de Gregorio C, Zito C, Carerj S, Di Bella G. Echocardiographic findings in cardiac amyloidosis: inside two-dimensional, Doppler, and strain imaging. Curr Cardiol Rep. 2019;21(2):7. doi:10.1007/s11886-019-1094-z

Li T, Huang X, Cheng S, et al. Utility of abdominal skin plus subcutaneous fat and rectal mucosal biopsy in the diagnosis of AL amyloidosis with renal involvement. PLoS ONE. 2017;12(9). doi:10.1371/journal.pone.0185078

Ikura H, Endo J, Kitakata H, Moriyama H, Sano M, Fukuda K. Molecular mechanism of pathogenesis and treatment strategies for AL amyloidosis. Int J Mol Sci. 2022;23(11):6336. doi:10.3390/ijms23116336