Skip to main content

Table 2 Common Misdiagnoses of Disturbances Caused by ATTR Amyloidosis

From: Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner

Common Misdiagnosis ATTR Symptoms Contradicting Given Diagnosis
Cardiac
 Hypertrophic cardiomyopathy Discordant voltage to mass ratio
 Hypertensive heart disease Discordant voltage to mass ratio; intolerance to beta blockers; waning need for antihypertensives
 Undifferentiated heart failure with preserved ejection fraction Nondilated hypertrophic LV
 Uncomplicated degenerative aortic stenosis Reduced longitudinal strain
Frequent low-flow, low-gradient paradoxical pattern
Thickened atrioventricular valves
Neurologic
 Chronic inflammatory demyelinating polyneuropathy Pain in the limbs, dysautonomia (erectile dysfunction, OH), symmetric polyneuropathy in upper limbs
 Monoclonal gammopathy–associated neuropathy Autonomic dysfunction (erectile dysfunction, OH)
 Idiopathic axonal polyneuropathy Dysautonomia (erectile dysfunction, OH), walking difficulties
 CTS Worsening of upper limb symptoms despite CTS surgery
 Lumbar spinal stenosis Failure to relieve symptoms in spite of spine surgery
 Diabetic neuropathy Walking difficulties
 Amyotrophic lateral sclerosis No upper motor neuron syndrome
Reduction of amplitude of SNAP
 Motor neuropathy Reduction of amplitude of SNAP
Gastrointestinal
 Inflammatory bowel syndrome Absence of inflammation
 Irritable bowel syndrome Absence of or only minor abdominal pain; weight loss
 Idiopathic diarrhea
 Idiopathic bile acid malabsorption
Weight loss
 Pseudo-obstruction Absence of or only minor abdominal pain or radiologic findings of intestinal obstruction
  1. ATTR Transthyretin amyloidosis, CTS Carpal tunnel syndrome, GI Gastrointestinal, LV Left ventricle, OH Orthostatic hypotension, SNAP Sensory nerve action potential