Año 2023 / Volumen 115 / Número 1
Original
Hepatic amyloidosis: a prevalence study and clinical characterization of a rare and severe disease

16-21

DOI: 10.17235/reed.2022.8622/2022

Emanuel Dias, Hélder Cardoso, Margarida Marques, Rodrigo Liberal, Susana Lopes, Pedro Pereira, João Santos-Antunes, Jorge Pinheiro, Joanne Lopes, Fátima Carneiro, Guilherme Macedo,

Resumen
Background and aim: Amyloidosis is a systemic disease characterized by extracellular deposition of amyloid protein, most commonly in the heart and kidney. Hepatic amyloidosis is a rare form of presentation that ranges from mild hepatomegaly and altered liver biochemical tests to acute liver failure. The aims of this study were to evaluate the prevalence of amyloidosis in patients undergoing liver biopsy and describe its main clinical characteristics and prognostic impact. Methods: A retrospective analysis of all patients with a histological diagnosis of hepatic amyloidosis between January 2010 and December 2019 was performed. Major results: A total of 7 patients were identified from a total of 1773 liver biopsy procedures (0.4%), with a female predominance (6/7) and median age of diagnosis of 62 years. The most common clinical manifestations included hepatomegaly (4/7), jaundice (2/7) and peripheral edema (2/7), whereas 3/7 patients were asymptomatic. Every patient presented abnormalities in liver biochemical tests, more commonly cholestasis (6/7), but also cytolysis (4/7) or hyperbilirubinemia (2/7). Abnormal imaging findings included hepatomegaly, steatosis or parenchymal heterogeneity. In most patients (5/7), other organs were involved, most commonly with nephrotic syndrome (3/7) and infiltrative cardiomyopathy (3/7). The most common type was AA amyloidosis (3/7) followed by AL amyloidosis (2/7). The 1-year mortality rate was 43% and the median survival was 24 months. Conclusions: We report a low prevalence (0.4%) of amyloidosis among patients undergoing liver biopsy. Although rare, hepatic amyloidosis is associated with a dismal prognosis and a high index of suspicion is crucial to achieve an early diagnosis. 
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Bibliografía
1. Merlini G, Seldin DC, Gertz MA. Amyloidosis: pathogenesis and new therapeutic options. J Clin Oncol. 2011;29(14):1924-33.
2. Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med. 2003;349(6):583-96.
3. Buck FS, Koss MN. Hepatic amyloidosis: morphologic differences between systemic AL and AA types. Hum Pathol. 1991;22(9):904-7.
4. Syed U, Ching Companioni RA, Alkhawam H, Walfish A. Amyloidosis of the gastrointestinal tract and the liver: clinical context, diagnosis and management. Eur J Gastroenterol Hepatol. 2016;28(10):1109-21.
5. Park MA, Mueller PS, Kyle RA, et al. Primary (AL) hepatic amyloidosis: clinical features and natural history in 98 patients. Medicine (Baltimore). 2003;82(5):291-8.
6. Gertz MA, Kyle RA. Hepatic amyloidosis: clinical appraisal in 77 patients. Hepatology. 1997;25(1):118-21.
7. Gertz MA, Kyle RA. Hepatic amyloidosis (primary [AL], immunoglobulin light chain): the natural history in 80 patients. Am J Med. 1988;85(1):73-80.
8. Shin YM. Hepatic amyloidosis. Korean J Hepatol. 2011;17(1):80-3.
9. Sonthalia N, Jain S, Pawar S, et al. Primary hepatic amyloidosis: A case report and review of literature. World J Hepatol. 2016;8(6):340-4.
10. Wang YD, Zhao CY, Yin HZ. Primary hepatic amyloidosis: a mini literature review and five cases report. Ann Hepatol. 2012;11(5):721-7.
11. Coriu D, Dispenzieri A, Stevens FJ, et al. Hepatic amyloidosis resulting from deposition of the apolipoprotein A-I variant Leu75Pro. Amyloid. 2003;10(4):215-23.
12. Sun KD, Zhang YJ, Zhu LP, et al. Abnormal serum carbohydrate antigen 19-9 levels in a patient with splenic retiform haemangioendothelioma concomitant with hepatic amyloidosis: A case report. World J Clin Cases. 2020;8(6):1108-15.
13. Dias T, Ferreira D, Moreira H, et al. A Case of Severe Cholestasis due to Hepatic AL Amyloidosis. GE Port J Gastroenterol. 2019;26(6):425-9.
14. Goenka MK, Bhasin DK, Vasisth RK, Dhawan S. Hepatic amyloidosis presenting with severe intrahepatic cholestasis. J Clin Gastroenterol. 1996;23(2):134-6.
15. Ford M, Disney B, Shinde V, Ishaq S. Hepatic amyloidosis: a cause of rapidly progressive jaundice. BMJ Case Rep. 2018;2018.
16. Ubiña Aznar E, Fernández Moreno N, Rivera Irigoín R, et al. Massive hepatic amyloidosis with fatal hepatic failure. Rev Esp Enferm Dig. 2006;98(7):551-2.
17. Premkumar M, Rangegowda D, Vyas T, et al. Primary Hepatic Amyloidosis Presenting as Acute-on-Chronic Liver Failure. ACG Case Rep J. 2017;4:e22.
18. Chaptini C, Casey G, Harris AG, Murrell DF, Gordon L. Recessive dystrophic epidermolysis bullosa (RDEB) complicated by secondary hepatic amyloidosis. JAAD Case Rep. 2015;1(6):337-9.
19. Buppajarntham S, Kue APP. Extensive loculated ascites in hepatic amyloidosis. N Am J Med Sci. 2014;6(7):346-8.
20. Damlaj M, Amre R, Wong P, How J. Hepatic ALECT-2 amyloidosis causing portal hypertension and recurrent variceal bleeding: a case report and review of the literature. Am J Clin Pathol. 2014;141(2):288-91.
21. Bion E, Brenard R, Pariente EA, et al. Sinusoidal portal hypertension in hepatic amyloidosis. Gut. 1991;32(2):227-30.
22. Li TT, Wu YF, Liu FQ, He FL. Hepatic amyloidosis leading to hepatic venular occlusive disease and Budd-Chiari syndrome: A case report. World J Clin Cases. 2019;7(20):3282-8.
23. Lohana AK, Abid S, Sayani R, Tahir U, Shaikh PA. Hepatobiliary and Pancreatic: Bleeding in amyloid liver: A rare presentation of primary liver amyloidosis. J Gastroenterol Hepatol. 2019;34(6):965.
24. Hasan SM, Ahmed NN, Ahmed Z, Seibert A. Response of Bortezomib Chemotherapy in Hepatic Amyloidosis. J Investig Med High Impact Case Rep. 2018;6:2324709618760079.
25. Son RC, Chang JC, Choi JH. Primary hepatic amyloidosis: report of an unusual case presenting as a mass. Korean J Radiol. 2011;12(3):382-5.
26. Peker E, Erden A. T1 mapping and magnetic resonance elastography: potential new techniques for quantification of parenchymal changes in hepatic amyloidosis. Diagn Interv Radiol. 2017;23(6):478.
27. Tawada A, Kanda T, Oide T, et al. 18F-fluorodeoxyglucose positron emission tomography might be useful for diagnosis of hepatic amyloidosis. Int Med Case Rep J. 2014;7:103-9.
28. Yoshida S, Shimada M, Nishino T, Hiroshima K. EDUCATION AND IMAGING. Hepatobiliary and Pancreatic: Elastography assessment in AL hepatic amyloidosis with no fibrosis. J Gastroenterol Hepatol. 2016;31(4):708.
29. Janssens F, Spahr L, Rubbia-Brandt L, Giostra E, Bihl F. Hepatic amyloidosis increases liver stiffness measured by transient elastography. Acta Gastroenterol Belg. 2010;73(1):52-4.
30. Matsuda S, Motosugi U, Kato R, et al. Hepatic Amyloidosis with an Extremely High Stiffness Value on Magnetic Resonance Elastography. Magn Reson Med Sci. 2016;15(3):251-2.
31. Hirano K, Ikemura M, Mizuno S, et al. Two cases with hepatic amyloidosis suspected of having primary sclerosing cholangitis. Hepatol Res. 2013;43(8):911-6.
32. Yim B, Kertowidjojo E, Zhang Y, Patel P. Poor Outcomes in Hepatic Amyloidosis: A Report of 2 Cases. Case Rep Oncol Med. 2016;2016:7625940.
33. Gertz MA, Comenzo R, Falk RH, et al. Definition of organ involvement and treatment response in immunoglobulin light chain amyloidosis (AL): a consensus opinion from the 10th International Symposium on Amyloid and Amyloidosis, Tours, France, 18-22 April 2004. Am J Hematol. 2005;79(4):319-28.
34. Riveiro-Barciela M, Gironella M, Senín A, et al. Decompensated Liver Disease due to Primary Hepatic Amyloidosis: Is Liver Transplantation Still Mandatory? Hepatology. 2019;69(6):2701-3.
35. Munoz J, Janakiraman N. Relapse of liver amyloidosis 6 years after autologous stem cell transplantation. Am J Hematol. 2012;87(9):926.
36. Cosme A, Horcajada JP, Vidaur F, et al. Systemic AA amyloidosis induced by oral contraceptive-associated hepatocellular adenoma: a 13-year follow up. Liver. 1995;15(3):164-7.
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Dias E, Cardoso H, Marques M, Liberal R, Lopes S, Pereira P, et all. Hepatic amyloidosis: a prevalence study and clinical characterization of a rare and severe disease. 8622/2022


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Recibido: 19/01/2022

Aceptado: 11/03/2022

Prepublicado: 17/03/2022

Publicado: 12/01/2023

Tiempo de revisión del artículo: 50 días

Tiempo de prepublicación: 57 días

Tiempo de edición del artículo: 358 días


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