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Table 2 Medical history and examinations in young patients with Fabry disease

From: Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

General status Decreased stamina and exercise; psychologic co-morbidities; school, work and sport participation and performance; smoking
  SF-36® Health Survey or PedsQL™
Pain Onset; quality; intensity; distribution; abnormal responses to stimuli; exacerbating factors; pain meds (past, current), McGill Pain Questionnaire, Brief Pain Questionnaire, Pediatric Pain Questionnaire
Gastrointestinal Abdominal cramps; (post-prandial) diarrhea; number of bowel movements/day; bloating; nausea
Family history Renal/cardiac failure; TIA or stroke; early death
Complete physical examination
  Including height; weight; pulse irregularity; supine and standing blood pressure; vascular skin lesions (Figure 1); cornea clouding (requires slit lamp exam, Figure 2)
Neurologic examination
  Thermal perception (cold/warm water tubes, a cold and warm tuning fork or reflex hammer, or thermal discs at dorsal foot, e.g., "Minnesota Thermal Disks" [81])
  Pain perception (pinprick to skin of limbs and trunk)
  Light touch perception (cotton swab or lightly touching skin, e.g., on legs vs. feet, testing distal vs. proximal sensation)
  Vibration perception (vibrating tuning fork (Rydell-Seiffer®) to 1st metatarsal bone)
  Sensorineural hearing loss (Rinne test, three-tone audiometry)
Definitive diagnosis
  α-Galactosidase A enzyme activity in leukocytes or whole blood in males
  GLA mutation analysis in females (known family mutation testing or full gene sequencing)
Genetic risk assessment Diagnosis should be followed by genetic testing of the entire family
Severity scoring
  Neuropathy Staging Scheme [91], Neuropathy Symptoms and Change Questionnaire [78]