hATTR amyloidosis is a multisystemic disease with a heterogeneous clinical presentation that includes sensory and motor, autonomic (e.g., diarrhea, sexual dysfunction, hypotension), and cardiac symptoms.
Signs and symptoms of hATTR amyloidosis can include:
- Sensory and/or motor neuropathy (e.g., neuropathic pain, alternation sensation [sensitivity to pain and temperature], numbness and tingling, muscle weakness, impaired balance, difficulty walking)
- Autonomic dysfunction (e.g., nausea and vomiting, changes in GI motility [diarrhea, constipation, gastroparesis, early satiety], orthostatic hypotension [fainting and dizziness upon standing], sexual dysfunction, bladder dysfunction)
- Heart disease (e.g., shortness of breath, edema, palpitations, arrhythmias, conduction abnormalities, heart failure, abnormal cardiac imaging [echo, MRI, or technetium])
- Bilateral carpal tunnel syndrome
- Spinal stenosis or spinal radiculopathy
- Ocular changes (e.g., blurred vision, blindness, dry eyes, glaucoma, visual field abnormalities, retinal detachment)
- Biopsy positive for amyloid
