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From SNPedia
TTR-related amyloidosis
Is agenotype
Geno Mag Summary
(A;A) 4 TTR-related familial amyloid polyneuropathy
(A;G) 5.5 TTR-related amyloidosis
(C;G) 5.5 TTR-related amyloidosis
(G;G) 0 common in clinvar

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Hereditary transthyretin-related amyloidosis is characterized by extracellular deposition of amyloid fibrils composed of TTR that accumulate in various organs and tissues.
  • Due to widely varying penetrance, carrying a disease-causing TTR gene mutation is not considered diagnostic; only clinical observation and tissue biopsy should be used for diagnosis.
  • The clinical symptoms appear to depend on both genotype and geographic origin; certain mutations do have characteristic clinical symptoms (if they present at all).
  • Management includes regular invasive and non-invasive surveillance. Individuals should undergo assessments every 6 months to monitor disease progression, including neurologic and autonomic assessments, echocardiography, Holter monitoring, opthalmologic, mBMI, electrophysiologic evaluation, an cardiac and renal lab measurements.
  • Individuals should not use local heating appliances, such as hot-water bottles, which can cause low-temperature burn injury in those with decreased temperature and pain perception.

The full ClinGen Actionability report about Hereditary transthyretin-related amyloidosis (TTR) can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.