Advances in Treatment of Wilson Disease

Annu Aggarwal; Mohit Bhatt

doi:10.5334/tohm.435

Figures & Tables

Table 1

Treatment Options and Strategies in Wilson Disease14,15,25

Patient Population	Treatment Aim	Treatment Options¹	Treatment duration
Symptomatic Wilson disease	Initial intensive treatment: Reverse neurological disability and stabilize liver disease; i.e., normalize positive body copper balance	Oral copper chelator (penicillamine or trientine)²	Typically takes 1–2 years. Up to 3 years in patients with severe neurological disability
Symptomatic Wilson disease	Maintenance treatment (is commenced once patients have recovered clinically): Prevent positive copper balance	Oral copper chelator (penicillamine or trientine) or zinc²	Lifelong
Asymptomatic Wilson disease	Maintenance treatment: Prevent positive copper balance	Oral copper chelator (penicillamine or trientine) or zinc ²	Lifelong
During pregnancy		Optimize treatment before planned pregnancy Continue oral copper chelator (penicillamine or trientine) (reduce dose by 25%) or zinc Avoid breast-feeding post pregnancy as both the oral copper chelators and zinc salts are secreted in breast milk and may interfere with the infant’s copper metabolism
First-degree family members	Screen for Wilson disease and treat if diagnosis confirmed		Lifelong if Wilson disease diagnosis confirmed No treatment if Wilson disease excluded Continued surveillance for symptoms every 6–12 months if Wilson disease could not be excluded
Wilson disease gene carriers	Do not have Wilson disease and do not require treatment

1 Only mainline treatment options are listed here. See text for discussion of dimercaprol (BAL) and tetrathiomolybdate.

2 Combination therapy of oral chelator and zinc is generally not recommended (see text).

Table 2

Medical Therapies for Wilson Disease

Drug	Mechanism of Action	Route of Administration	Potential Duration of Therapy
British anti-Lewisite or dimercaprol¹	Copper chelation	Deep intramuscular injection in buttocks	A few weeks or months with drug-free intervals
Penicillamine	Copper chelation	Oral	Lifelong
Trientine	Copper chelation	Oral	Lifelong
Zinc salts	Decreases gastrointestinal copper absorption	Oral	Lifelong
Tetrathiomolybdate²	Copper chelation + Decreases gastrointestinal copper absorption	Oral	A few months² (see text)

1 British anti-Lewisite is no longer used in regular practice as it requires painful intramuscular injections and is associated with serious adverse effects and tachyphylaxis. There is suggestion for short-term use of British anti-Lewisite in patients with severe neurological disability (see text).

2 Under clinical investigation; not commercially available.