Hepatic amyloidosis: a prevalence study and clinical characterization of a rare and severe disease

Autores da FMUP

• Susana Isabel Oliveira Lopes

  Autor

• Maria De Fátima Machado Henriques Carneiro

  Autor

• Manuel Guilherme Gonçalves Macedo

  Autor

Participantes de fora da FMUP

• Dias, E
• Cardoso, H
• Marques, M
• Liberal, R
• Pereira, P
• Santos-Antunes, J
• Pinheiro, J
• Lopes, J

Unidades de investigação

• Laboratório Associado RISE- Rede de Investigação em Saúde

  

  Investigador

  Fernando Carlos De Landér Schmitt

• Medicina

• Patologia

• RISE-Health

  

  Investigador

  Fernando Carlos De Landér Schmitt

Abstract

Background and aim: amyloidosis is a systemic disease charac-terized 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 hepatomeg-aly 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 his-tological diagnosis of hepatic amyloidosis between Janu-ary 2010 and December 2019 was performed.Results: seven patients were identified from a total of 1,773 liver biopsy procedures (0.4 %), with a female pre-dominance (6/7) and median age of diagnosis of 62 years. The most common clinical manifestations included hepato-megaly (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 hyper-bilirubinemia (2/7). Abnormal imaging findings included hepatomegaly, steatosis or parenchymal heterogeneity. In most patients (5/7), other organs were involved, most com-monly with nephrotic syndrome (3/7) and infiltrative cardio-myopathy (3/7). The most common type was AA amyloidosis (3/7) followed by AL amyloidosis (2/7). The one-year mortal-ity rate was 43 % and the median survival was 24 months.Conclusions: we report a low prevalence (0.4 %) of amyloi-dosis 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.

Keywords

• Amyloidosis; Hepatic amyloidosis; Liver biopsy