Hereditary transthyretin amyloidosis from a Scandinavian perspective.
J Intern Med
; 254(3): 225-35, 2003 Sep.
Article
en En
| MEDLINE
| ID: mdl-12930231
ABSTRACT
Hereditary transthyretin (TTR) amyloidosis is a rare often fatal form of systemic amyloidosis, that until recently was considered intractable, with the patients dying from the disease 5-15 years after onset. The phenotype of the disease varies according to the type of mutation, but generally the heart and/or the nervous system is affected. Liver and in some cases heart transplantation has now been shown to stop the progress of the disease, but the outcome depends on the patients' status at the time of operation, as no substantial improvement of the patients' symptoms has been noted after the procedure. Thus an early diagnosis is of importance for the outcome. In the following, we summarize our knowledge of the amyloidogenic TTR mutations found in the Scandinavian countries, their symptoms, how to settle the diagnosis and the outcome of transplantation. Besides, the problems arising from our capability to genetically test asymptomatic members of affected families for the trait will be discussed.
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Colección:
01-internacional
Asunto principal:
Prealbúmina
/
Amiloidosis Familiar
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Screening_studies
Límite:
Humans
País/Región como asunto:
Europa
Idioma:
En
Revista:
J Intern Med
Asunto de la revista:
MEDICINA INTERNA
Año:
2003
Tipo del documento:
Article
País de afiliación:
Suecia