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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]