Figure 2.

TTR V142I variant positive individuals with hereditary transthyretin amyloidosis (hATTR)-related systemic features and/or related symptoms at result disclosure. The majority of V142I variant positive individuals (56%) had at least one hATTR-related systemic feature at the time of result disclosure. Cardiac features (present in 13%) include congestive heart failure and cardiomyopathy; related symptoms include shortness of breath, dizziness, syncope, palpitations, and edema. Autonomic neuropathy features (present in 22%) include cardiac autonomic dysfunction, incontinence, and sexual dysfunction/impotence; related symptoms include nausea/vomiting, diarrhea, constipation, and loss of appetite/early satiety. Peripheral neuropathy features (present in 47%) include carpal tunnel syndrome and spinal stenosis; related symptoms include carpal tunnel related symptoms, gait/balance problems, muscle weakness, numbness/tingling, pain in extremities, back pain, and joint pain.