HHT-Center Odense University Hospital, Part of VASCERN, Odense, Denmark.
Department of Otorhinolaryngology Head and Neck Surgery, Odense, Denmark.
Orphanet J Rare Dis. 2020 Nov 26;15(1):334. doi: 10.1186/s13023-020-01583-6.
This report addresses how patients with hereditary hemorrhagic telangiectasia (HHT) and high output cardiac failure (HOCF) due to hepatic vascular malformations, should be evaluated and could be treated. HHT is a genetic disorder, leading to vascular abnormalities with potentially serious clinical implications. In the liver, arteriovenous malformations occur in more than 70% of patients, but only about 8% present clinical symptoms such as HOCF with pulmonary hypertension and less commonly portal hypertension, biliary ischemia and hepatic encephalopathy.
Three female patients with HHT type 2 and HOCF caused by severe arteriovenous malformations in the liver are presented in this case series. The patients were seen at the HHT-Centre at Odense University Hospital. Treatment with either orthotopic liver transplantation (one patient) or bevacizumab (two patients) was initiated. All patients experienced marked symptom relief and objective improvement. New York Heart Association-class were improved, ascites, peripheral edema and hence diuretic treatment was markedly reduced or discontinued in all three patients. Bevacizumab also resulted in notable effects on epistaxis and anemia.
Our findings substantiate the importance of identification of symptomatic arteriovenous malformations in the liver in patients with HHT. Bevacizumab may possibly, as suggested in this case series and supported by previous case studies, postpone the time to orthotopic liver transplantation or even make it unnecessary. Bevacizumab represents a promising new treatment option, which should be investigated further in clinical trials.
本报告探讨了因肝脏血管畸形导致遗传性出血性毛细血管扩张症(HHT)和高输出心力衰竭(HOCF)的患者应如何进行评估和治疗。HHT 是一种遗传性疾病,导致血管异常,具有潜在的严重临床影响。在肝脏中,动静脉畸形发生在超过 70%的患者中,但只有约 8%的患者出现临床症状,如伴有肺动脉高压的 HOCF,以及较少见的门静脉高压、胆道缺血和肝性脑病。
本病例系列介绍了 3 名 HHT 2 型女性患者,因严重的肝脏动静脉畸形导致 HOCF。这些患者在奥登塞大学医院的 HHT 中心就诊。治疗方案为肝移植(1 名患者)或贝伐珠单抗(2 名患者)。所有患者的症状均明显缓解,客观指标得到改善。纽约心脏协会(NYHA)心功能分级改善,腹水、外周水肿减少,所有患者利尿剂用量明显减少或停药。贝伐珠单抗还显著改善了鼻出血和贫血。
我们的发现证实了在 HHT 患者中识别有症状的肝脏动静脉畸形的重要性。贝伐珠单抗可能会如本病例系列和以前的病例研究所示,延迟肝移植的时间,甚至使其变得不必要。贝伐珠单抗是一种有前途的新治疗选择,应在临床试验中进一步研究。