Prevalence of Huntington’s disease is underestimated in UK

BMJ 2010; 340 doi: (Published 30 June 2010) Cite this as: BMJ 2010;340:c3516
  1. Jacqui Wise
  1. 1London

    The prevalence of Huntington’s disease in the UK has been massively underestimated and is more than double the current estimates, doctors have claimed.

    UK studies carried out in the 1970s and 80s show an average prevalence of 6-7 cases per 100 000 of the population. But writing in the Lancet this week, Professor Sir Michael Rawlins, honorary professor of the London School of Hygiene and Tropical Medicine and chairman of the National Institute for Health and Clinical Excellence, states: “The true prevalence of Huntington’s disease is unquestionably greater than that rate.” (Lancet DOI:10.1016/S0140-6736(10)60974-9.)

    The Huntington’s Disease Association, a not for profit organisation that provides services for patients with the disease, is aware of 6702 people with symptoms. Professor Rawlins writes: “Specialist neurologists have referred all of them so their diagnoses can hardly be in doubt. From these numbers alone, the minimum prevalence in England and Wales must therefore be at least 12.4 per 100 000.” He adds that the true figure must be even higher as the association is not aware of every case in England and Wales.

    Speaking at a press conference in London this week, Professor Rawlins said there are several reasons for the underestimate. Until recently no genetic test was available so a diagnosis was made on the basis of clinical features alone. Also a lot of stigma is associated with the disease so those affected may hide their condition. This is exacerbated by the fact that Huntington’s disease is the only genetic disease for which the insurance industry is allowed to inquire about the results of predictive genetic tests.

    Professor Rawlins said he is about to embark on a new study using GP databases to get a more reliable figure on the true prevalence of Huntington’s disease. He said it is important to know how many people are affected for planning purposes and to establish research priorities. “It is not that rare a disease and this may encourage drug companies to carry out more research into the condition.”

    In a bid to promote greater understanding and awareness of Huntington’s disease an All Party Parliamentary Group was launched this week. This is chaired by Lord Walton of Detchant, a former president of the BMA and leading neurologist. Launching under the banner of Hidden no More the group aims to eradicate stigma, promote research, and chivvy the NHS to provide the best possible care.

    Sarah Tabrizi, professor of clinical neurology at University College London, who leads a large research programme in Huntington’s disease said: “There are no disease modifying treatments at the moment.” She continued: “Research is now focusing on identifying treatments that can intervene before the disease takes hold. There are a few treatments that look promising and we hope to take these into clinical trials in the next few years.”

    She added that drug companies such as GlaxoSmithKline and Novartis were interested in developing drugs for Huntington’s disease as they may also be used as a model for other neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease.


    Cite this as: BMJ 2010;340:c3516


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