Transthyretin-Related Amyloidosis Follow-up

Updated: Jan 26, 2017
  • Author: Jefferson R Roberts, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Follow-up

Complications

Complications of transthyretin-related amyloidosis (ATTR) include the following:

  • Familial amyloid polyneuropathy (FAP): Sensory, motor and autonomic neuropathy; cachexia; leptomeningeal involvement
  • Cardiac: Restrictive cardiomyopathy, arrhythmias
  • Renal: End-stage renal disease, nephrotic syndrome
  • Ophthalmologic: Keratoconjunctivitis sicca, glaucoma, vitreous opacities, pupillary abnormalities
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Prognosis

The natural course of TTR-FAP can be classified into the following three stages:

  • Stage I – Sensory polyneuropathy
  • Stage II – Progressive walking disability
  • Stage III – Wheelchair bound or bedridden

Life expectancy ranges from 7.3 to 11 years from onset. [17] The prognosis depends on the presence and identity of a TTR variant and organ(s) involved. Patients with early-onset of variant-sequence TTR may die within a few years of diagnosis. Older patients with slowly progressive disease can live for decades after the onset of symptoms and may never develop life-threatening disease. [14]

Penetrance of the individual ATTR mutations vary. The penetrance of the same mutation in different geographic areas can also vary, for example, the Portuguese population showing much higher penetrance of the Val30Met mutation during middle age (80% at 50 years) compared with the French population (18% at 50 years). [17]

In contrast to light chain amyloidosis (AL), symptomatic cardiac involvement in ATTR does not necessarily portend a poor prognosis. Median survival in cardiac AL is about 6 months, but is several years in older patients with cardiac ATTR, even in those with a TTR variant.

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