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Advisor(s)
Abstract(s)
A Paramiloidose é uma dura realidade em Portugal, já que é no nosso país que existe o maior foco da doença descrito no mundo. O crescente aumento de casos da doença em algumas zonas do país, incluindo a região da Cova da Beira, mais propriamente no concelho da Covilhã, e o desconhecimento social sobre a doença, as suas causas, a sua propagação e as possibilidades de cura fazem com que se torne urgente aprofundar a investigação, médica e social, sobre esta condição, que é simultaneamente clínica, social e pessoal.
Esta constatação e o impacto que a doença tem sobre quem dela sofre justificam a
pertinência deste trabalho sobre a PAF, também conhecida por Polineuropatia Amiloidótica Familiar ou como é mais conhecida pelo senso comum por “Doença dos Pezinhos”, descrita por primeira vez por Corino de Andrade em 1939.
Desde a descrição inicial, por Corino de Andrade, de 12 famílias portadoras de PAF que o seu número tem vindo a aumentar. Calcula-se que um novo portador nasça a cada semana, uma nova família seja identificada a cada mês e 50 novos doentes surjam a cada ano. A progressão da doença, em Portugal, traduzida nestes números, associada ao seu carácter progressivo, incapacitante e afectando essencialmente indivíduos jovens, “torna-a num problema grave de
Saúde Pública, sobre o qual urge actuar” (Coutinho P., 1989).
Esperamos que a análise efectuada, ajude a compreender mais e melhor esta doença, do
ponto de vista do portador quais os impactos pessoais e sociais que experimenta no seu
quotidiano que influência tem na vida destas pessoas e quais as suas perspectivas de futuro.
The Amyloidosis is a reality, in Portugal exist the largest focus of the disease described in the world, the increasing cases of the disease in some parts of the country, including the region of Cova da Beira, more specifically in the county of Covilhã, social and ignorance about the disease, its causes, its spread and the possibilities of healing make becomes urgent further research, medical and social, on this condition which is both clinical, social and personal. This finding justifies the relevance of this work on PAF, also known as Familial Amyloid Polyneuropathy, or as it is known by the common sense of "The Toes Disease," described for the first time by Corino de Andrade in 1939. Since the initial description by Corino de Andrade, 12 families living with PAF, that their number is increasing. It is estimated that a new bearer is born every week, a new family to be identified each month and 50 new patients each year arise. The progression of the disease in Portugal translated these numbers, associated with its progressive character, disabling and affects mainly young individuals, “makes this a serious public health problem, on which urges to act” (P. Coutinho, 1989). We hope that the analysis carried out more, and help you understand this disease better, from the standpoint of the bearer, and what personal and social impacts that are targeted, and what influence has in these people´s lives and the lives of those who try to help them and what their future prospects are.
The Amyloidosis is a reality, in Portugal exist the largest focus of the disease described in the world, the increasing cases of the disease in some parts of the country, including the region of Cova da Beira, more specifically in the county of Covilhã, social and ignorance about the disease, its causes, its spread and the possibilities of healing make becomes urgent further research, medical and social, on this condition which is both clinical, social and personal. This finding justifies the relevance of this work on PAF, also known as Familial Amyloid Polyneuropathy, or as it is known by the common sense of "The Toes Disease," described for the first time by Corino de Andrade in 1939. Since the initial description by Corino de Andrade, 12 families living with PAF, that their number is increasing. It is estimated that a new bearer is born every week, a new family to be identified each month and 50 new patients each year arise. The progression of the disease in Portugal translated these numbers, associated with its progressive character, disabling and affects mainly young individuals, “makes this a serious public health problem, on which urges to act” (P. Coutinho, 1989). We hope that the analysis carried out more, and help you understand this disease better, from the standpoint of the bearer, and what personal and social impacts that are targeted, and what influence has in these people´s lives and the lives of those who try to help them and what their future prospects are.
Description
Keywords
Paramiloidose - Hereditariedade Paramiloidose - Novas terapêuticas