Martins A C, Rosa A M, Costa E, Tavares C, Quadrado M J, Murta J N
Centro Hospitalar e Universitário de Coimbra, Avenida Bissaya Barreto-Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal.
Centro Hospitalar e Universitário de Coimbra, Avenida Bissaya Barreto-Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal ; Faculty of Medicine, University of Coimbra, Rua Larga, 3004-504 Coimbra, Portugal.
Biomed Res Int. 2015;2015:282405. doi: 10.1155/2015/282405. Epub 2015 Oct 19.
This paper aims to review the morphological and functional characteristics of patients affected by familial amyloid polyneuropathy (FAP), with greater focus on type I and its progression after liver transplantation. We also analyse therapeutic options for the ophthalmic manifestations.
The literature from 2002 through 2015 was reviewed, with a total of 45 articles studied, using the key terms related to amyloidosis and its therapeutic approaches. Information was collated, evaluated, critically assessed, and then summarised in its present form. PATHOPHYSIOLOGY AND TREATMENT: FAP results from mutation of the transthyretin gene, with Val30Met being the most frequent substitution. The symptoms are those typical of a sensorimotor autonomic neuropathy and can be halted with liver transplantation. Nowadays there are new medical therapies that delay the progression of the systemic neuropathy. However, there are still no options to avoid ocular disease.
The main ocular manifestations in patients with FAP type I are amyloid deposition in the vitreous, dry eye, and secondary glaucoma. Despite liver transplantation, eye synthesis of amyloid persists and is associated with progressive ocular manifestations, which require continued ophthalmologic follow-up. New therapeutic strategies are therefore needed, particularly to target the ocular synthesis of the abnormal protein.
本文旨在综述家族性淀粉样多神经病（FAP）患者的形态学和功能特征，重点关注I型及其肝移植后的病情进展。我们还分析了眼部表现的治疗选择。
回顾了2002年至2015年的文献，共研究了45篇文章，使用了与淀粉样变性及其治疗方法相关的关键词。对信息进行了整理、评估、严格分析，然后以当前形式进行总结。病理生理学与治疗：FAP由转甲状腺素蛋白基因突变引起，Val30Met是最常见的替代突变。症状为感觉运动自主神经病变的典型症状，肝移植可使其停止发展。如今有新的药物疗法可延缓全身性神经病变的进展。然而，仍没有办法避免眼部疾病。
I型FAP患者的主要眼部表现为玻璃体淀粉样沉积、干眼和继发性青光眼。尽管进行了肝移植，但眼部淀粉样蛋白的合成仍持续存在，并与眼部病变的进展相关，这需要持续的眼科随访。因此需要新的治疗策略，特别是针对异常蛋白的眼部合成。
