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A variable clinical presentation5

The type of mutation and geography can determine the clinical presentation and age
of onset.

Most mutations that cause TTR-FAP result in a sensorimotor neuropathy beginning in the lower limbs as the cardinal feature.5

Autonomic symptoms may be evident at disease onset, or develop within 1 to 2 years of initial sensorimotor involvement.11 In some cases, cardiac involvement may also
be observed.2



Classic clinical presentation (V30M*)

Age of onset

In patients with the V30M mutation, TTR-FAP typically occurs during active adult years, with onset as early as in the 30s.12

Patients may present with:

Peripheral nerve involvement

  • Sensorimotor impairment in the lower extremities manifesting as impaired sensation to temperature and pain, hyperalgesia, as well as muscle weakness and atrophy as sensory impairment advances2,11

Autonomic involvement

  • Autonomic dysfunction often manifests as one or more of the following: alternating constipation and diarrhea, orthostatic hypotension, erectile dysfunction, edema and unintentional weight loss.

Cardiac involvement

  • Cardiac involvement manifests as arrhythmias2

Other clinical presentations (Non-V30M)

Age of onset

In patients with non-V30M mutations the age of onset is typically in the 50s.12

Patients may present with:

Peripheral nerve involvement

  • Sensorimotor impairment in either the upper or lower extremities. Upper extremity involvement manifests as weakness and paresthesias of one or both hands. Lower extremity involvement follows a pattern similar to that observed in V30M cases9

Autonomic involvement

  • Autonomic dysfunction often manifests as one or more of the following: alternating constipation and diarrhea, orthostatic hypotension, and erectile dysfunction2,11

Other organ involvement

  • Sensorimotor and autonomic neuropathy is often accompanied by visceral organ involvement. Organs affected may include the kidneys and the heart9

*Valine replaced by methionine at position 30 of the transthyretin protein.