Publication
Paramiloidose ocular, um quadro de novo após transplante hepático : importãncia da semiologia na predição do risco de glaucoma
| Summary: | Familial amyloidotic polyneuropathy (FAP) type I is a form of hereditary amyloidosis, firstly described in Portugal, with an autosomic dominant trait, and variable penetrance. It’s characterized by extracellular deposition of amyloid substance in various organs, composed by mutated transthyretin, the protein involved in this type of FAP. Val30Met is its most frequent mutation. It’s a multissistemic disorder, predominantly with sensory-motor and autonomic neuropathy. As transthyretin is produced predominantly by the liver, the most common treatment is liver transplantation, allowing for neuropathy progression to be stopped. The mutated protein is also produced in the eye, and amyloid deposits can be found in various ocular tissues.Manifestations like vitreous opacities, glaucoma and pupillary disorders have been reported. After the liver transplantation, the independent ocular protein synthesis can lead to progression or development de novo of ophthalmological manifestations. A patient with FAP I, who developed glaucoma four years after liver transplantation will be presented, with findings at physical examination of amyloid deposition on the pupillary border and pupillary flower configuration, aspects described as predictive for the development of glaucoma. The importance of regular ophthalmological follow-up is emphasized, with special attention to its semiology. |
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| Main Authors: | Silva, Teresa Patrícia Plancha da |
| Subject: | Polineuropatia amiloidótica familiar (PAF) Amilóide Transplante hepático Glaucoma |
| Year: | 2014 |
| Country: | Portugal |
| Document type: | master thesis |
| Access type: | restricted access |
| Associated institution: | Universidade de Lisboa |
| Language: | Portuguese |
| Origin: | Repositório da Universidade de Lisboa |
| Summary: | Familial amyloidotic polyneuropathy (FAP) type I is a form of hereditary amyloidosis, firstly described in Portugal, with an autosomic dominant trait, and variable penetrance. It’s characterized by extracellular deposition of amyloid substance in various organs, composed by mutated transthyretin, the protein involved in this type of FAP. Val30Met is its most frequent mutation. It’s a multissistemic disorder, predominantly with sensory-motor and autonomic neuropathy. As transthyretin is produced predominantly by the liver, the most common treatment is liver transplantation, allowing for neuropathy progression to be stopped. The mutated protein is also produced in the eye, and amyloid deposits can be found in various ocular tissues.Manifestations like vitreous opacities, glaucoma and pupillary disorders have been reported. After the liver transplantation, the independent ocular protein synthesis can lead to progression or development de novo of ophthalmological manifestations. A patient with FAP I, who developed glaucoma four years after liver transplantation will be presented, with findings at physical examination of amyloid deposition on the pupillary border and pupillary flower configuration, aspects described as predictive for the development of glaucoma. The importance of regular ophthalmological follow-up is emphasized, with special attention to its semiology. |
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