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Clinical Clues for ATTR-CM/PN

Recognize some of the common clinical clues of ATTR-CM
  • ATTR-CM is underdiagnosed and often misdiagnosed; therefore, a high index of clinical suspicion is important in diagnosing this fatal, progressive disease3
  • Transthyretin amyloidosis is a heterogeneous disorder with multiorgan involvement. Therefore, patients with ATTR-CM present with varied signs and symptoms which may include cardiac as well as noncardiac manifestations that may not typically be present in other cardiovascular diseases3
  • Please note, VyndamaxTM is not indicated to treat all of the below symptoms of ATTR-CM.

Identify “red flag” symptom clusters that may raise suspicion of ATTR-PN
  • ATTR-PN does not present uniformly, even among carriers of the same transthyretin mutation.30
  • The clinical presentation can change based on the mutation, geographic location, and age of onset; most mutations result in a sensorimotor neuropathy beginning in the lower limbs as the cardinal feature.30-36
  • Autonomic symptoms may be evident at disease onset or they may develop within 1 to 2 years of initial sensorimotor involvement.35
  • In many cases, cardiac involvement may also be observed.32
  • Patients with a family history of ATTR should always be considered at potential risk for ATTR-PN and are candidates for genetic testing.30
  • Please note, Vyndaqel® is not indicated to treat all the below symptoms of ATTR-PN.

 

ATTR-PN: Signs that may raise suspicion30,32
Length-dependent, peripheral neuropathy with distal-to-proximal procession:
  • Early autonomic dysfunction (e.g., erectile dysfunction, postural hypotension)
  • GI complaints (e.g. chronic diarrhea, constipation, diarrhea/constipation)
  • Unexplained weight loss
  • Cardiac hypertrophy, arrhythmias, ventricular blocks, or cardiomyopathy
  • Bilateral carpal tunnel syndrome (especially if also present in family members)
  • Renal abnormalities (e.g., albuminuria, mild azotemia)
  • Eye disorders (e.g., vitreous opacities, dry eye)

 

Additional alert signs:
  • Rapid disease progression
  • Failure of response to prior therapies