A population study of Lesch-Nyhan disease in the UK

Abstract

HPRT Hypoxanthine-guanine phosphoribosyl transferase LND Lesch-Nyhan disease AIM The aims of this study were to identify all people with Lesch-Nyhan disease (LND) born in the UK between 1988 and 2008, and to obtain a clinical profile including age at diagnosis, genetic background, family history, neurological signs, and medications.METHOD Potential participants were contacted through the British Paediatric Neurology Surveillance Unit. Questionnaires were sent to each child's paediatric neurologist or primary consultant. Two purine laboratories provided metabolic information.RESULTS Twenty-three live males with LND in the 0-to 20-year age band and eight live males over the age of 20 years were identified. Thirty-one live people with LND were identified in the UK in 2008, giving a prevalence of 1 in 2 million people. Over the 20 years of study, there was a mean incidence rate of 0.18 per 100 000 live births, range 0 to 0.5.

Consequences of Delayed Dental Extraction in Lesch‐Nyhan Disease

“…The cases described here all provide examples that tooth extraction is beneficial. This experience is similar to that reported from other centers where many LND patients are followed . However, dental extraction is not required for all cases, and it should not be applied routinely in all patients as a preventive measure.…”

“…This experience is similar to that reported from other centers where many LND patients are followed. 5,31 However, dental extraction is not required for all cases, and it should not be applied routinely in all patients as a preventive measure. Sparing of all teeth is possible when biting does not occur, or when biting is mild or infrequent.…”

Needles in haystacks: the challenges of rare diseases

“…The article by McCarthy et al., 1 together with similar recent articles, 2,3 all on Lesch–Nyhan disease (LND), provide some valuable lessons applicable to rare diseases in general. LND is a developmental disorder distinguished by overproduction of uric acid and a characteristic neurobehavioral syndrome.…”

“…But even these tell‐tale signs are not foolproof. Self‐injurious behavior may be absent or delayed until adulthood, 2 and serum uric acid levels may be normal or only slightly elevated 1 . Patients presenting in clinic don’t often appear with the classic and complete phenotypic syndromes described in textbooks, so it is important to avoid dismissing diagnoses when a specific feature is absent.…”

“…For example, self‐injurious biting in LND is extremely difficult to control, and often leads to the desperate proposal that teeth be removed to stop it. The decision to proceed with such an outrageous suggestion becomes much less horrifying to patients and families when they learn that more than half of all patients with LND (in some of the best treatment centers) ultimately must have their teeth removed, and later are happy with the decision 1 …”