Hepatopathy as the first manifestation of systemic AL amyloidosis

Czech version

Authors: Fusková J.; Miča T.
Authors‘ workplace: Gastroenterologická ambulance, Nemocnice ATLAS, a. s., Zlín
Published in: Gastroent Hepatol 2018; 72(6): 508-511
Category: Hepatology: Case Report
doi: https://doi.org/10.14735/amgh2018508

Overview

Amyloidosis is considered a rare disease characterized by the deposition of insoluble protein – amyloid, into the extracellular space of tissues, which damages their functions. There are about 30 types of amyloidosis, of which the most common is systemic AL amyloidosis, which we include among monoclonal gammopathies. At first, symptoms may be nonspecific, such as fatigue, loss of appetite, and weight loss, or there may be symptoms of damage to specific organs, such as the heart and kidneys and nervous system, but also liver, soft tissue, or GIT. In our case, we document a patient who first presented at our gastroenterology clinic. It is important to consider the possibility of amyloidosis after all other common hepatopathies have been excluded. The diagnosis of this patient was prolonged for several months mainly because the patient hesitated to undergo a liver biopsy, which afterwards clearly confirmed the diagnosis. The patient’s status temporarily improved when symptomatic therapy was implemented. After a targeted examination, damage to other organs was also detected, but the treatment no longer had any influence on the infaust prognosis of the patient. Early diagnosis and treatment is important for amyloidosis, because it can have a significant impact on patient outcome. The problem is that, even with clear indications, this disease is often neglected in diagnostic reports.

Key words:

amyloidosis – hepatomegaly – biopsy

Submitted: 2. 5. 2018

Accepted: 17. 9. 2018

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE „uniform requirements“ for biomedical papers.

Sources

1. Adam Z, Krejčí M, Vorlíček J et al. Hematologie, přehled maligních hematologický nemocí. 2. vyd. Praha: Grada Publishing 2008: 250– 255.

2. Ščudla V, Pika T, Látalová P et al. Diagnostika a stratifikace systémové AL amyloidózy ve světle „Doporučení České myelomové skupiny 2013“. Klin Biochem Metab 2014; 22(43): No. 2, 49– 60.

3. Kroupa R, Dastych M, Šenkyřík M et al. Systémová AL-amyloidóza s dominující klinickou manifestací v trávicím traktu. Vnitř Lék 2005; 51(5): 588– 592.

4. Zahradová L. Systémová amyloidóza, Onkológia (Bratislava) 2016; 11(6): 361– 364.

5. Petre S, Shah IA, Gilani N. Review article: gastrointestinal amyloidosis – clinical features, diagnosis and therapy. Aliment Pharmacol Ther 2008; 27(11): 1006– 1016. doi: 10.1111/ j.1365-2036.2008.03682.x.

6. Wang YD, Zhao CY, Yin HZ. Primary hepatic amyloidosis: a mini literature review and five cases report. Ann Hepatol 2012; 11(5): 721– 727.

7. Kyle RA, Linos A, Beard CM et al. Incidence and natural history of primary systemic amyloidosis in Olmsted county, Minnesota, 1950 through 1989. Blood 1992; 79(7): 1817– 1822.

8. Comenzo RL, Reece D, Palladini G et al. Consensus guidelines for the conduct and reporting of clinical trials in systemic light-chain amyloidosis. Leukemia 2012; 26(11): 2317– 2325. doi: 10.1038/ leu.2012.100.

9. Husová L, Hušek K, Čáslava T et al. Primární amyloidoza jako neobvyklá příčina krvácení z trávicího ústrojí. Čes a Slov gastroent 2000; 54(3): 112– 116.

10. Ryšavá R. Systémové amyloidózy a jejich léčba. Praha: Maxdorf Jessenius 2013: 48– 95.

11. Kováčik F, Táborský M, Hutyra M. Srdeční amyloidóza – kazuistika. Interv Akut Kardiol 2016; 15(2): 145– 147.

12. Hassan W, Al-Segrani H, Mourad W et al. Amyloid heart disease. New frontiers and insights in pathophysiology, diagnosis, and management. Tex Heart Inst J 2005; 32(2): 178– 184.

13. Merlini G, Seldin DC, Gertz MA. Amyloidosis: pathogenetis and new therapeutic options. J Clin Oncol 2011; 29(14): 1924– 1933. doi: 10.1200/ JCO.2010.32.2271.

14. Kohoutová D, Tichý M, Maisnar V et al. Systémová AL-amyloidóza – kazuistika. Klin Biochem Metab 2007; 15(36): No. 2, 91– 94.