Porfiria cutânea tardia

Porfiria cutânea tardia
Especialidade endocrinologia
Classificação e recursos externos
CID-10 E80.1
CID-9 277.1
CID-11 370983230
OMIM 176100, 176090
DiseasesDB 10376, 29123
eMedicine 1103643
MeSH D017119
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Porfiria cutânea tardia é o subtipo mais comum de porfiria.[1] Este distúrbio resulta dos baixos níveis da enzima responsável pelo quinto passo na produção de heme. Heme é uma molécula vital para todos os órgãos do corpo humano. Ela é um componente da hemoglobina, a molécula que carrega oxigênio no sangue.

Quando os sinais e sintomas ocorrem, eles usualmente iniciam na vida adulta[1] e resultam da pele se tornando mais sensível à luz solar. As áreas da pele expostas ao sol desenvolvem bolhas, cicatrizes, mudanças na pigmentação e hipertricose (aumento da quantidade de pelos).[1] A pele exposta se torna frágil e facilmente é lesada.[2] As pessoas com porfiria cutânea tarda também possuem níveis aumentados de ferro no fígado. Elas possuem riscos aumentados de desenvolver funções anormais do fígado e câncer hepático. Os sinais e sintomas deste distúrbio podem ser desencadeados por fatores não-genéticos como o abuso de álcool,[1] excesso de ferro, alguns hormônios e infecções virais.[2]

Epidemiologia

Este tipo de porfiria ocorre numa taxa estimada de 1 em cada 25.000 pessoas, incluindo os casos herdados e esporádicos (não-herdados). Estima-se que 80% dos casos de porfiria cutânea tarda são esporádicos. Não se sabe com exatidão esta freqüência pois muitas pessoas com este distúrbio nunca apresentam sintomas.

Referências

  1. ↑ a b c d «Porfíria cutânea». Tua Saúde. Consultado em 21 de fevereiro de 2020 
  2. ↑ a b «Porfiria cutânea tardia - Distúrbios endócrinos e metabólicos». Manuais MSD edição para profissionais. Consultado em 21 de fevereiro de 2020 
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