SEARCH

SEARCH BY CITATION

Keywords:

  • amyloidosis (hereditary);
  • inborn errors of metabolism;
  • transplantation (liver and heart);
  • transthyretin

Abstract. Suhr OB, Svendsen IH, Andersson R, Danielsson Å, Holmgren G, Ranløv PJ (Umeå University Hospital, Umeå, Sweden; Rigshospitalet, København Ø, Denmark; Örnsköldsviks Hospital, Örnsköldsvik, Sweden; and Hørsholm Hospital, Hørsholm, Denmark). Hereditary transthyretin amyloidosis from a Scandinavian perspective (Review). J Intern Med 2003; 254: 225–235.

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.