Treatment algorithm

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer

ONGOING

all patients

1st line – allopurinol

Back
ONGOING
|
all patients
1st line – 

allopurinol

Allopurinol reduces the risk of hyperuricemia-associated urologic and articular complications by effectively reducing serum acid levels.[37][38] Allopurinol inhibits the conversion of xanthine and hypoxanthine to uric acid.

Doses are titrated to maintain uric acid levels in the high-normal range and must be adjusted for renal insufficiency.

Primary options

allopurinol: children: 10 mg/kg/day orally given in 2-3 divided doses, titrated to maintain uric acid levels in the high-normal range, maximum 800 mg/day; adults: 100-600 mg/day orally given in 2-3 divided doses, titrated to maintain uric acid levels in the high-normal range, maximum 800 mg/day

Plus – generous hydration

Back
ONGOING
|
all patients
Plus – 

generous hydration

Treatment recommended for ALL patients in selected patient group

In addition to allopurinol, generous hydration at all times is essential to wash out the oxypurines hypoxanthine and xanthine, and the allopurinol metabolite oxypurinol, which may also cause (radiolucent) renal stones.[39][40]

Generally, the suggestion is a total fluid intake of 2 to 2.5 L per 1.73 m^2 body surface area (BSA). In adults, a target urinary volume of at least 1.5 L, preferably 2 to 2.5 L, has been advocated. The goal is to lower uric acid concentration in the urine and also to avoid dehydration during episodes of fever or vomiting (e.g., on hot days).

Plus – physical therapy to reduce contractures

Back
ONGOING
|
all patients
Plus – 

physical therapy to reduce contractures

Treatment recommended for ALL patients in selected patient group

Physical therapy is generally useful to prevent contractures and preserve overall physical condition.

Consider – botulinum toxin injection

Back
ONGOING
|
all patients
|
with dystonia, chorea, and/or ballismus
Consider – 

botulinum toxin injection

Treatment recommended for SOME patients in selected patient group

Symptomatic treatment of severe dystonia (i.e., to improve hand function or prevent contractures) can be performed by botulinum toxin injections in selected muscles.

The dose depends on the severity of the dystonia, the muscle being injected, and the preferences of the doctor.

Primary options

onabotulinumtoxinA: consult specialist for guidance on dose

Consider – muscle relaxant and/or benzodiazepine

Back
ONGOING
|
all patients
|
with spasticity
Consider – 

muscle relaxant and/or benzodiazepine

Treatment recommended for SOME patients in selected patient group

A muscle relaxant such as baclofen or dantrolene can be used if spasticity is a problem.[3]

Often, a muscle relaxant and a benzodiazepine are used concurrently. Benzodiazepines have the additional advantage of reducing anxiety, which is known to exacerbate the extrapyramidal and behavioral features

Primary options

baclofen: children: consult specialist for guidance on dose; adults: 5 mg orally three times daily initially, titrate according to response, maximum 70 mg/day

OR

dantrolene: children: 1 mg/kg/day orally given in 3-4 divided doses, titrate according to response, maximum 400 mg/day; adults: 25 mg/day orally initially given in divided doses, titrate according to response, maximum 400 mg/day

OR

diazepam: children: 0.12 to 0.8 mg/kg/day orally given in 3-4 divided doses; adults: 2-10 mg orally three to four times daily

Plus – positive reinforcement for desired behaviors

Back
ONGOING
|
all patients
|
with behavioral abnormalities
Plus – 

positive reinforcement for desired behaviors

Treatment recommended for ALL patients in selected patient group

The most effective method to deal with difficult behaviors is to acknowledge the fact that they are beyond the patient's control, engage the patient in an active environment, provide positive reinforcement for desired behaviors, and actively ignore undesirable behaviors. For many patients, it is of utmost importance that they feel understood.

No pharmacologic treatment has consistently demonstrated effectiveness in managing behavioral disturbances in Lesch-Nyhan disease (LND); they do not respond consistently to formal psychological treatment either.[3] Negative reinforcement usually increases unwanted behaviors.[48][49]

Consider – measures to counter self-injurious behavior

Back
ONGOING
|
all patients
|
with behavioral abnormalities
Consider – 

measures to counter self-injurious behavior

Treatment recommended for SOME patients in selected patient group

Self-injury is best managed by engaging the patient in an active environment and actively ignoring the self-injurious behavior. Negative reinforcement might increase self-injury.[48][49]

Most patients need some form of physical restraint such as arm splints, limb straps, or protective gloves.[3][50][51] Teeth extraction is needed to counter biting when conservative measures fail.[52] Hard objects that can be reached, including wheelchairs, need soft padding.[53]

Plus – increased fluid intake and urine alkalinization

Back
ONGOING
|
all patients
|
with renal stones
Plus – 

increased fluid intake and urine alkalinization

Treatment recommended for ALL patients in selected patient group

Small urate stones can usually be managed by further increasing fluid intake and by urine alkalinization, with potassium citrate being the preferred agent. Treatment is required to prevent long-term renal complications.[40][41]

Primary options

potassium citrate: see local protocol for administration guidelines

Consider – lithotripsy or surgery

Back
ONGOING
|
all patients
|
with renal stones
Consider – 

lithotripsy or surgery

Treatment recommended for SOME patients in selected patient group

Large stones and oxypurine stones may require lithotripsy or surgery, although the latter are more difficult to eliminate.[39][41] Treatment is required to prevent long-term renal complications.[40][41]

back arrow

Choose a patient group to see our recommendations

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups. See disclaimer

Use of this content is subject to our disclaimer