Diagnosis and Treatment

All patients with suspected or diagnosed ATTR amyloidosis should be assessed in a dedicated specialist unit. In the UK, the referral centre is the NHS National Amyloidosis Centre (NAC) at the Royal Free Hospital, London. Information for referring physicians in the UK is available here.

The Centre for Amyloidosis and Acute Phase Proteins comprises the NHS National Amyloidosis Centre, funded since 1999 by the Department of Health to provide diagnostic and management advisory services for the national caseload of patients with amyloidosis, and the Wolfson Drug Discovery Unit.

Doctors may suspect ATTR amyloidosis on the basis of patients’ symptoms, findings on physical examination and sometimes family history. The diagnosis can be confirmed (or eliminated) by tests including:

  1. Tissue biopsy
  2. Genetic testing
  3. Imaging studies

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Treatment

Treatment of all types of amyloidosis is currently based on the following principles:

  1. Reducing the supply of amyloid forming precursor proteins.
  2. Supporting the function of organs containing amyloid.

When amyloid precursor protein supply is controlled:

  1. existing amyloid deposits often regress (become smaller)
  2. new amyloid deposits stop appearing
  3. organ function is often preserved and may also recover

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