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Table 1 Concepts identified in targeted literature review

From: Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease

Signs/symptoms

Impacts

Neuropathic pain (acroparesthesia, Fabry crisis pain, and chronic continuous pain in hands and feet)

Physical activities, including exercise and sports

Gastrointestinal symptoms (abdominal pain, diarrhea, constipation, nausea, and vomiting)

Work and school productivity

Impaired relationships (social, intimate, and family)

Impaired sweating (hypohidrosis and anhidrosis)

Impaired emotional functioning, particularly depression and anxiety

Angiokeratoma

Hearing impairment (hearing loss, tinnitus)

General quality of life

Heat intolerance

Lymphedema

Headache

Renal complications (proteinuria, need for dialysis and/or transplant)

Cardiac complications (chest pain, palpitations, CHF, and MI)

Cerebrovascular complications (stroke and TIA)

Ophthalmological issues (corneal verticillate and tortuous vessels)

Fatigue, tiredness, or excessive sleepiness