Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Symptomatic Untreated Wilson Disease

System/ConcernEvaluationComment
Primary manifestations
Liver disease Liver biopsy or biochemical testing & imaging of liver
  • Establish baseline copper studies (serum ceruloplasmin & serum copper & 24-hr urinary copper excretion).
  • Consider additional upper GI endoscopy to exclude or confirm esophageal varices.
Neurologic Neurologist assess for:
  • Movement disorders
  • Gait & balance disturbance
Using validated neurologic rating scale (neurologic subscale of Unified Wilson's Disease Rating Scale) 1
Speech For those w/dysarthria: eval by speech-language pathologist
Musculoskeletal/ADL Eval by physiatrist/OT/PTTo assess gross motor & fine motor skills, gait, ambulation, need for adaptive devices
Cognitive Assess for cognitive dysfunction.
Psychiatric Eval by psychiatrist, psychologist, neuropsychologist if neededFor personality & mood disorders
Eyes Complete eye examTo incl assessment for Kayser-Fleischer rings, sunflower cataracts
Possible secondary manifestations
Endocrine disorders Glucose intoleranceBasic biochemical profileUnderlying liver disease might affect hormone metabolism.
Parathyroid insufficiency
Disordered growth
Males: gynecomastia
Females: menstrual irregularity / amenorrhea
Frequent miscarriage
Cardiac involvement Cardiac arrhythmiaBy cardiolologist
Cardiomyopathy
Renal involvement By nephrologistAssess for:
  • Tubular dysfunction (e.g., aminoaciduria, hypercalcuria, hyperphosphaturia)
  • Nephrolithiasis, nephrocalcinosis
Genetic counseling By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of Wilson disease to facilitate medical & personal decision making
Family support
& resources 		By treating clinicians, social workersAssess need for:
  • Community or online resources;
  • Social work involvement for parental/caregiver support;
  • Home nursing referral.

ADL = activities of daily living; GI = gastrointestinal; OT = occupational therapist; PT = physical therapist

1.
2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Wilson Disease

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