No ocular involvement in familial amyloidotic polyneuropathy ATTR V30M domino liver recipients

Abstract

Summary In many transplantation centers domino liver transplantation is an established procedure, increasing the number of available liver grafts. Increasingly, grafts from familial amyloidotic polyneuropathy (FAP) patients are used. Ocular involvement is a well known manifestation of FAP, and can be vision‐threatening. The aim of this study was to evaluate the risk of development of familial amyloidotic polyneuropathy ocular manifestations in domino liver recipients. Forty‐four cirrhotic patients submitted to liver transplantation were studied, with an average of 6 years of follow up after the procedure. Twenty two patients had received a liver from a FAP donor (Group 1) and 22 had received a liver from a non‐FAP cadaveric donor (Group 2). Both groups were similar for mean age and gender. Routine ophthalmological examinations with particular attention to amyloid deposition in the anterior segment and vitreous, peripheral retina state, lacrimal functions tests (Schirmer and tear break‐up time) and pupillometry (dynamic and static) were performed. No statistically significant differences were observed in all studied ophthalmic parameters between the two groups. No FAP related ophthalmic manifestations were detected after 6 years of domino liver transplantation, but further prospective regular ophthalmological examinations are necessary to detect the eventual development of late ocular manifestations.

Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review

“…TTR is also present in the cerebrospinal fluid and aqueous humour [ 5 ]. About 90% [ 11 , 14 ] is synthesised and secreted by the liver and a small portion (<2%) may be synthesised by the brain's choroid plexus, the retinal pigment epithelium (RPE) [ 6 , 11 ], and the small intestine [ 15 ].…”

“…It has been suggested that plasma TTR does not cross the blood-retinal barrier [ 14 ], despite evidence of progression of ocular manifestations, after liver transplantation. This reaffirms the belief that intraocular amyloid fibrils are not synthesised by the liver but locally at the RPE [ 11 ].…”

“…This type of transplantation has been known since then as sequential or “domino” transplantation [ 20 ]. Nowadays, livers from patients with FAP are even transplanted to patients with cirrhosis or carcinoma [ 14 ].…”

Corino de Andrade disease: mechanisms and impact on reproduction

“…Orthostatic hypotension (Benson & Kincaid, 2007; Planté-Bordeneuve & Said, 2011; Ando et al , 2013), Nephropathy (Lobato et al , 2003; Benson & Kincaid, 2007; Lobato & Rocha, 2012; Planté-Bordeneuve & Said, 2011; Ando et al. , 2013), Ocular diseases (Benson & Kincaid, 2007; Cunha-Vaz, 2009; Beirão et al , 2012, 2013; Planté-Bordeneuve & Said, 2011; Ando et al. , 2013), Heart diseases (Benson & Kincaid, 2007; Planté-Bordeneuve & Said, 2011; Ando et al , 2013), and reproductive problems.…”

“…These include organ transplantation (Furtado, 2000; Sousa et al. , 2004; Benson & Kincaid, 2007; Hou et al , 2007; Lobato & Rocha, 2012; Beirão et al , 2012, 2013; Ando et al , 2013; Castaño et al , 2015), stabilizer agents (Tafamidis: prevent TTR from dissociating into monomers) (Coelho et al , 2012, 2013), gene therapy using antisense oligonucleotides (ASO: cause nuclear degradation of the mutated mRNA (Castaño et al. , 2015; Niemietz et al , 2015), gene therapy using small interference RNA (siRNA: block translation of the mutated mRNA) (Coelho et al , 2013; Castaño et al , 2015; Niemietz et al.…”