How many people have Huntington’s Disease?

Actually, nobody can give a well documented answer to this question.  The estimates of how many Huntington’s disease patients there are vary a lot and we actually don’t have any precise mapping of the numbers. But does that matter? 

Written by Astri Arnesen

Hugh Rickards. Photo: Enroll-HD

Hugh Rickards, psychiatrist and Huntington’s disease (HD) specialist, argues that we should get better knowledge about the prevalence of HD.  And he continues with explaining why: In order to provide health services based on the actual needs we should have better documentation of the number of people who have HD.

As long as we cannot document the number of people who needs help, its hard to argue for planning and set up of services.  

This topic was brought up in an online mini-seminar with the members from the EHDN task force named HEATED – Huntington’s Equal Access to Effective Drugs.  

The group is chaired by Prof. Rickards.  He also brought up a very important question about definition of who we want to include when counting HD incidence. The figures we have from previous studies have mostly looked for numbers of people diagnosed with HD.

But we all know that many HD patients are not diagnosed until quite late in the disease development, some are not diagnosed at all. And when counting only those with a confirmed diagnose we are missing all the presymptomatic HD gene positive. 

Presymptomatic people may very well benefit from drug treatment

But why should these be counted?  

Because, argues Prof. Rickards: In the future presymptomatic people may very well benefit from drug treatment in order to delay disease onset and progression. And the health system needs to know how many they should be able to treat.

Dr. Alison Gordon, psychiatrist in Lanarkashire, Scotland, presented numbers of patients and estimates of gene positive in their region. Dr. Gordon told us they got in touch with more patients and families when their service was made known to families. As long as people don’t see there is any help provided for them, they may stay away from the hospital and manage on their own.

Dr. Gordon also experienced that more people were referred to the hospital when the promising news from the IONIS trial was published. 

It seems that hope for future drugs, prompted more people to get in touch with the HD specialist. And probably there are many people out there who need health services, but don’t approach the health care institutions as long as they don’t have access to an HD expert or hope for drug treatment. 

28 – 36 HD gene positive pr 100.000

In Lankashire Dr. Gordon estimated that there was between 28 – 36 HD gene positive pr 100.000. These numbers indicates the entire continuum from presymptomatic to late stage HD.

The discussion in the HEATED group concluded that this estimate may correspond to other estimates when we calculate in gene positive presymptomatic to the number of people with confirmed diagnosis.  

However, more knowledge is needed and HEATED wants to take a lead on proposing how this can be done in future studies.