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Familial Amyloidosis

Definition

Familial Amyloidosis is an autosomal dominant disorder caused by abnormal build up of amyloid in different tissues/organs. Many different proteins can lead to amyloid deposits. The most commonly inherited mutations occur in transthyretin (TTR), although mutations in a number of other serum proteins such as apolipoprotein A-1, fibrinogen, and gelsolin are also recognised. Symptoms onset is often a due to peripheral neuropathy, autonomic dysfunction, or cardiomyopathy, carachterized by concentric left ventricular hypertrophy with preserved ejection fraction and conduction disorders.

Why to perform genetic testing in cases suspected Familial Amyloidosis?

  • To confirm diagnosis
  • To provide personalized care and treatment since different therapeutic options are available based on the type of Amyloidosis
  • To detect family members at risk

 

Our Familial Amyloidosis Genetic Test

TTR

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

 

Recommended Literature

  • Transthyretin Cardiac Amyloidosis. Mankad AK1Shah KB2. Curr Cardiol Rep. 2017 Aug 24;19(10):97. doi:10.1007/s11886-017-0911-5.
  • Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis. Brown EE, et al. Amyloid. 2017 Jun;24(2):92-95. doi:10.1080/13506129.2017.1324418.
  • Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathy. Vermeer AMC, et al. Amyloid. 2017 Jun;24(2):87-91. doi: 10.1080/13506129.2017.1322573.

 

Download here interesting open access manuscripts on Familial Amyloidosis