Lesch-Nyhan syndrome medical therapy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. There is no standard treatment for the neurological symptoms of LNS. Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.^[1]

• Controlling overproduction of uric acid helps reducing the risk of nephropathy, nephrolithiasis, and gouty arthritis.
• Hyperhydration and alkalinization are essential to prevent kidney stones and urate nephropathy.
• The drug allopurinol is utilized to stop the conversion of oxypurines into uric acid, and prevent the development of subsequent arthritic tophi (produced after having long standing gout), renal stones (also known as kidney stones), and nephropathy, the resulting kidney disease.
• Allopurinol is taken orally, at a typical dose of 3–20 mg/kg per day. The dose is then adjusted to bring the uric acid level down into the normal range (<3 mg/dL). Most affected individuals can be treated with allopurinol all through life.
• Bringing uric acid levels down below normal levels increases the risk of developing oxypurine stones.
• Allopurinol and probenecid can prevent hyperuricemia, but fails to control neurological symptoms.

• No medication is effective in controlling the extrapyramidal motor features of the disease. Spasticity, however, can be reduced by the administration of baclofen or benzodiazepines.

• No method of treatment for the neurobehavioral aspects of the disease has been effective. Even children treated from birth with allopurinol develop behavioral and neurologic problems, despite never having had high serum concentrations of uric acid.
• Self-injurious and other behaviors are best managed by a combination of medical, physical, and behavioral interventions.
• The self-mutilation is often reduced by using restraints.
• Sixty percent of individuals have their teeth extracted in order to avoid self-injury, which families have found to be an effective management technique.
• Because stress increases self-injury, behavioral management through aversive techniques (which would normally reduce self-injury) actually increases self-injury in individuals with LNS.
• Nearly all affected individuals need restraints to prevent self-injury, and are restrained more than 75% of the time. This is often at their own request, and occasionally involves restraints that would appear to be ineffective, as they do not physically prevent biting. Families report that affected individuals are more at ease when restrained.

An article in the August 13, 2007 issue of The New Yorker magazine, written by Richard Preston, discusses “Deep-brain stimulation,” as a possible treatment. It has been performed on a few patients with Lesch-Nyhan syndrome by Dr. Takaomi Taira in Tokyo and by a group in France led by Dr. Philippe Coubes. Some patients experienced a decrease in spastic self-injurious symptoms. The technique was developed for treating people with Parkinson’s disease, according to Preston, over 20 years ago. The treatment involves invasive surgery to place wires that carry a continuous electric current into a specific region of the brain.^[2]

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