Lesch-nyhan syndrome

Healthcare/Doctors

Should people with Lesch-Nyhan Syndrome see any medical specialists?

People with Lesch-Nyhan syndrome have symptoms that affect many different systems of the body. They should seek advice and medical care from a team of specialists that may include:

  1. Neurologist
  2. Behavioral/Developmental Specialist
  3. Nephrologist/Urologist
  4. Geneticist and Genetic Counselor

The best person to discuss the symptoms of Lesch-Nyhan syndrome is a medical geneticist (a specialist in inherited/genetic conditions) or pediatric neurologist (a specialist in conditions of the nervous system for children). Pediatric urologist (kidney and urinary tract specialists) should also be consulted. Medical geneticists and pediatric neurologist in an area can be found by talking to doctors about who they would recommend or to find a genetics clinic use the "Find Genetic Services" function at the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors under "Find a Counselor".

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If someone has Lesch-Nyhan Syndrome, what should their primary care provider know about managing the disease?

Are there published guidelines for management and surveillance for Lesch-Nyhan Syndrome?

If someone has Lesch-Nyhan Syndrome, what should their primary care provider know about managing the disease?

If someone has Lesch-Nyhan syndrome, their primary care provider should know the management and surveillance guidelines. A complete blood count will be needed to evaluate for megaloblastic anemia. Supportive services (speech therapy, physical therapy, occupational therapy) need to be started early on. The primary care provider should look for early signs of self-injury and monitor uric acid levels. They should also look for signs of kidney stones. Continued follow up with a neurologist, developmental specialist, and nephrologist/urologist will be needed.

The best person to discuss the symptoms of Lesch-Nyhan syndrome is a medical geneticist (a specialist in inherited/genetic conditions) or pediatric neurologist (a specialist in conditions of the nervous system for children). Pediatric urologist (kidney and urinary tract specialists) should also be consulted. Medical geneticists and pediatric neurologist in an area can be found by talking to doctors about who they would recommend or to find a genetics clinic use the “Find Genetic Services” function at the American College of Medical Genetics. To find a genetic counselor search on the National Society of Genetic Counselors under "Find a Counselor".

References
Are there published guidelines for management and surveillance for Lesch-Nyhan Syndrome?

To establish the extent of disease and needs in an individual diagnosed with Lesch-Nyhan syndrome, the following evaluations are recommended:

  1. Complete blood count to evaluate for megaloblastic anemia (anemia with very large red cells in the blood)
  2. Chemistry screen for uric acid concentration
  3. Neurologic examination
  4. Developmental/behavioral assessments
  5. Evaluation for renal calculi, usually by ultrasound examination of the abdomen
  6. Clinical genetics consultation

Management and surveillance is individualized for each person's unique needs. Most management focuses on the following areas:

  1. Monitor plasma uric acid concentration: One can control the increased production of uric acid by taking allopurinol. Allopurinol slows down the production of uric acid. It is also important to drink lots of fluids to stay hydrated; this helps the uric acid be better eliminated in the urine. This helps prevent kidney and bladder stones from forming. If stones do form, they can usually be broken up or removed. Certain medications called uricosuric drugs, like probenecid, should also be avoided.
  2. Review medical history for signs or symptoms of silent or active renal stones: Preventing kidney stones and treating them can help reduce the chance of other complications such as urinary tract infections and more serious kidney issues.
  3. Neurological concerns: For spasticity, medications such as baclofen and benzodiazepines can be taken. Having a comfortable wheelchair is also important.
  4. Behavior concerns: Individuals should be monitored for early signs of self-injury. The behavior often starts around 2-3 years of age, but can begin earlier or occur later. Medication may be taken for behavioral concerns but there is no current effective intervention. Promising medications include gabapentin, carbamazepine, diazepam, others. Physical restraint is often needed. Sharp and dangerous objects should not be in arm’s reach. Some people get their teeth removed if they can’t control biting themselves. Behavioral therapy is also important.

A detailed description of the surveillance and management recommendations can be found on GeneReviews.

Management should be discussed with a team of specialists which may include a medical geneticist, pediatric neurologist or pediatric urologist (kidney and urinary tract specialist), in addition to a specialist in behavioral therapy. These specialists can be found by talking to doctors about who they would recommend. A genetics clinic can be located using the “Find Genetic Services” function at the American College of Medical Genetics.

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