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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