Assis-Mendonça Guilherme Rossi, Cunha-Silva Marlone, Fernandes Mariana Franson, Torres Luiza Dias, de Almeida Verissimo Monica Pinheiro, Okano Marcelo Trevisan Neves, Mazo Daniel Ferraz, Lalli Cristina Alba, Sevá-Pereira Tiago, Stelini Rafael Fantelli, da Costa Larissa Bastos Eloy
Department of Pathology, University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas, SP, 13.083-887, Brazil.
Division of Gastroenterology (Gastrocentro), University of Campinas (UNICAMP), Campinas, Brazil.
BMC Gastroenterol. 2020 Oct 12;20(1):332. doi: 10.1186/s12876-020-01468-9.
Genetic anaemias lead us to reflect on the classic 'trolley dilemma', when there are two choices but neither one is satisfactory. Either we do not treat anaemia and the patient suffers from chronic tiredness and fatigue, or we do treat it through blood transfusions, leading to iron overload, which is a quite harmful consequence.
We present the case of a 34-year-old woman with Diamond-Blackfan anaemia (DBA). Bone marrow stem cell transplantation had not been accessible during her childhood, so she had been submitted to monthly blood transfusions throughout her life, leading to a hepatitis C virus infection (which was treated, achieving a sustained virological response when she was 18 years old), and secondary haemochromatosis. Despite chelation therapy, diffuse iron deposition was occurring in multiple organs, markedly in the heart and liver. Her serum ferritin was higher than 21,000 ng/mL and transferrin saturation reached 102%. When she faced heart decompensation, this congestive condition led to an acute liver injury overlapping pre-existing hepatic fibrosis. She progressed to haemodynamic and hepatic failure, with clinical features of acute-on-chronic liver failure (ACLF). Despite therapeutic optimisation, she died of respiratory insufficiency. An autopsy was performed and revealed the macroscopic and microscopic findings of a massive iron deposition in the liver, heart, lungs, spleen, bone marrow, thyroid and adrenal glands. We found marked advance of liver fibrosis (chronic damage), as well as necrosis of hepatocytes in zone 3 of the Rappaport acinus (acute damage), supporting the hypothesis of ACLF. The main feature responsible for acute liver decompensation seemed to be heart insufficiency.
This is the first case reporting the sequence: DBA, multiple blood transfusions, secondary haemochromatosis, advanced liver fibrosis, heart failure, ACLF and death. A multidisciplinary team is essential to care for DBA patients, since there is a significant emotional burden related to the disease, which might impair an effective chelation therapy and lead to severe consequences due to iron deposition.
遗传性贫血使我们思考经典的“电车难题”，即面临两种选择但都不尽人意。要么我们不治疗贫血，患者会遭受慢性疲劳，要么我们通过输血进行治疗，这会导致铁过载，而这是一个相当有害的后果。
我们报告了一名34岁患有先天性纯红细胞再生障碍性贫血（DBA）的女性病例。在她童年时期无法进行骨髓干细胞移植，因此她一生都接受每月一次的输血治疗，这导致了丙型肝炎病毒感染（已接受治疗，18岁时实现了持续病毒学应答）和继发性血色素沉着症。尽管进行了螯合治疗，但多个器官仍出现弥漫性铁沉积，心脏和肝脏尤为明显。她的血清铁蛋白高于21,000 ng/mL，转铁蛋白饱和度达到102%。当她出现心脏失代偿时，这种充血状态导致急性肝损伤，叠加了先前存在的肝纤维化。她进展为血流动力学和肝功能衰竭，具有慢加急性肝衰竭（ACLF）的临床特征。尽管进行了治疗优化，她最终死于呼吸功能不全。进行了尸检，发现肝脏、心脏、肺、脾、骨髓、甲状腺和肾上腺有大量铁沉积的宏观和微观表现。我们发现肝纤维化（慢性损伤）明显进展，以及Rappaport腺泡3区肝细胞坏死（急性损伤），支持ACLF的假设。导致急性肝失代偿的主要特征似乎是心脏功能不全。
这是首例报告如下病程的病例：DBA、多次输血、继发性血色素沉着症、晚期肝纤维化、心力衰竭、ACLF和死亡。对于DBA患者，多学科团队护理至关重要，因为该疾病存在重大情感负担，这可能会损害有效的螯合治疗，并因铁沉积导致严重后果。
