Liver Unit, Queen Elizabeth Hospital Birmingham, Birmingham, United Kingdom.
Liver Transpl. 2012 Feb;18(2):195-200. doi: 10.1002/lt.22345.
Acute intermittent porphyria (AIP) is an autosomal-dominant condition resulting from a partial deficiency of the ubiquitously expressed enzyme porphobilinogen deaminase. Although its clinical expression is highly variable, a minority of patients suffer recurrent life-threatening neurovisceral attacks despite optimal medical therapy. Because the liver is the major source of excess precursor production, liver transplantation (LT) represents a potentially effective treatment for severely affected patients. Using data from the U.K. Transplant Registry, we analyzed all transplants performed for AIP in the United Kingdom and Ireland. Between 2002 and 2010, 10 patients underwent LT for AIP. In all cases, the indication for transplantation was recurrent, biochemically proven, medically nonresponsive acute attacks of porphyria resulting in significantly impaired quality of life. Five patients had developed significant neurological morbidities such as paraplegia before transplantation. The median follow-up time was 23.4 months, and there were 2 deaths from multiorgan failure at 98 days and 26 months. Eight recipients were alive for 3.2 to 109 months after transplantation. Complete biochemical and symptomatic resolution was observed in all patients after transplantation. However, there was a high rate of hepatic artery thrombosis (HAT; 4/10), with 1 patient requiring regrafting. The effects of previous neuronal damage such as joint contractures were not improved by transplantation. Thus, impaired quality of life in the surviving patients was usually a result of preoperative complications. Refractory AIP is an excellent indication for LT, and long-term outcomes for carefully selected patients are good. There is, however, an increased incidence of HAT in these patients, and we recommend routine antiplatelet therapy after transplantation.
急性间歇性卟啉症(AIP)是一种常染色体显性遗传疾病,由广泛表达的卟胆原脱氨酶部分缺乏引起。尽管其临床表现高度可变,但少数患者尽管接受了最佳的药物治疗,仍会反复发作危及生命的神经内脏发作。由于肝脏是过量前体产生的主要来源,因此肝移植(LT)代表了一种对严重受影响患者潜在有效的治疗方法。我们使用来自英国移植登记处的数据,分析了在英国和爱尔兰进行的所有用于 AIP 的移植。在 2002 年至 2010 年间,有 10 名患者因 AIP 接受了 LT。在所有情况下,移植的指征都是反复发作、生化证实、药物治疗无效的急性卟啉症发作,导致生活质量显著受损。在移植前,有 5 名患者已出现严重的神经病变,如截瘫。中位随访时间为 23.4 个月,有 2 名患者在术后 98 天和 26 个月因多器官衰竭而死亡。8 名受者在移植后 3.2 至 109 个月时仍存活。所有患者在移植后均观察到完全的生化和症状缓解。然而,肝动脉血栓形成(HAT;4/10)的发生率较高,1 名患者需要再次移植。移植不能改善以前的神经元损伤,如关节挛缩等造成的影响。因此,在幸存患者中生活质量受损通常是术前并发症的结果。难治性 AIP 是 LT 的极佳指征,经过仔细选择的患者的长期预后良好。然而,这些患者 HAT 的发生率增加,我们建议在移植后常规进行抗血小板治疗。