Topical Cyclosporine for Severe Dry Eye Disease in Liver-Transplanted Portuguese Patients with Familial Amyloidotic Polyneuropathy (ATTRV30M)

Beirão, João Melo; Matos, Maria E.; Beirão, Idalina; Costa, Paulo; Torres, Pedro

doi:10.5301/ejo.5000197

Cited by 8 publications

(6 citation statements)

References 41 publications

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“…For patients with severe dry eye disease, patients refractory to treatment with topical artificial tear, or patients with closure of the punctum [ 40 ], topical cyclosporine has been shown to be beneficial in patients with FAP after liver transplant, showing symptomatic improvement and improving the quality life. Cyclosporine reduces inflammation and improves the composition of the tear film through its inhibitory action on T lymphocytes and by increasing goblet cells in the conjunctival epithelium.…”

Section: Treatment Of Ocular Manifestationsmentioning

confidence: 99%

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

Martins

Rosa

Costa

et al. 2015

BioMed Research International

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Purpose. 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. Methods. 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. Conclusion. 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.

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Section: Treatment Of Ocular Manifestationsmentioning

confidence: 99%

“…Cyclosporine reduces inflammation and improves the composition of the tear film through its inhibitory action on T lymphocytes and by increasing goblet cells in the conjunctival epithelium. Its topical use is not associated with adverse effects and it has a low systemic absorption [ 40 ].…”

Section: Treatment Of Ocular Manifestationsmentioning

confidence: 99%

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

Martins

Rosa

Costa

et al. 2015

BioMed Research International

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“…Those conditions are treated with general therapy for dry eyes: artificial tears, eyelid hygiene, and ocular occlusion devices. In one study, 5 patients with severe dry eye disease (refractory to treatment with artificial tears and lacrimal plugs) were successfully treated with cyclosporine eyedrops (0.05%) after liver transplant, with no side effects (43) . However, the authors highlighted the risk of dysautonomia of the lacrimal gland and accessory lacrimal glands (meibomian gland dysfunction).…”

Section: Decreased Tear Production (Keratoconjunctivitis Sicca) and N...mentioning

confidence: 99%

Ophthalmological manifestations of hereditary transthyretin amyloidosis

Gondim¹,

Filha²,

Filho³

2022

ABO

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Transthyretin familial amyloidosis is the most common form of inherited systemic amyloidosis worldwide. The condition develops secondary to more than 100 different point mutations in the transthyretin gene (18q12.1). The mutations lead to abnormal amyloid deposits, mainly in the heart and peripheral nerves. Leptomeningeal and mainly ocular involvement is common. Although there are several different types of treatment available, ocular involvement, which occurs also in liver transplant recipients, remains a major challenge, progressing even in liver transplant recipients. Patients with ocular involvement require efficient ophthalmological follow-up to prevent vision loss. In this review, different forms of ocular involvement characterizing the subtypes of transthyretin mutations were described, and the effects of different treatments were summarized. Further research is necessary to fully elucidate these issues.

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“…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.…”

Section: Introductionmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 99%

Corino de Andrade disease: mechanisms and impact on reproduction

Lopes

Coelho²,

Barros

et al. 2017

JBRA Assisted Reproduction

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Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive life. The Transthyretin gene mutation originates a mutated protein that precipitates in the connective tissue as amyloid deposits. This disease is presently named Transthyretin-related hereditary amyloidosis. We performed an extensive review on this disease based on searches in Medical databases and in paper references. In this review, we briefly summarize the epidemiology and the mechanisms involved on amyloid deposition; we detailed how to evaluate the mechanisms implicated on the development of the major signs and symptoms associated with reproductive dysfunction; and we discuss the mechanisms involved in secondary sexual dysfunction after psychological treatments. Treatment of the disease is directed towards relieving specific symptoms in association with liver transplant, and molecular and genetic therapeutics. Although the current clinical trials indicate symptoms relief, no data on the reproductive function was reported. Thus, preimplantation genetic diagnosis is presently the only available technique that eradicates the disease as it avoids the birth of new patients.

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Topical Cyclosporine for Severe Dry Eye Disease in Liver-Transplanted Portuguese Patients with Familial Amyloidotic Polyneuropathy (ATTRV30M)

Abstract: Topical cyclosporine was beneficial in the treatment of severe dry eye disease in liver transplanted patients with FAP.

Cited by 8 publications

References 41 publications

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

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

Ophthalmological manifestations of hereditary transthyretin amyloidosis

Corino de Andrade disease: mechanisms and impact on reproduction

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