Expert-based recommendations for the management of agitation, anxiety, apathy, psychosis and sleep disorders in Huntington's disease (HD) are now available from the Journal of Huntington’s Disease. This information is important for doctors and HD families because medical care in HD is not just about offering a cure in the future, it's about reducing burdensome symptoms and improving quality of life now. Because there is too much information in the journal publication to put into a single HDDW article, this introduction will be followed by separate articles that deal with each of the symptoms. I also include articles on irritability and obsessive compulsive behaviors (perseveration) adapted from previous work on HD treatment guides. The goal is to help HD families learn about the recommendations and be able to use them to partner with local doctors.

Important take home points for medical providers and for families affected by HD is that treatment for each of these symptoms in HD is quite similar to treatment of that same symptom in other conditions. However when more than one symptom is present the choice of drug will be influenced by the combination of symptoms and stage of disease.

Introduction The journal article [Anderson KE 2018] is "open access", meaning readers can view and download the entire article for free.

This introduction is followed by separate HDDW articles that deal with each of the listed symptoms: agitation, anxiety, apathy, psychosis and sleep disorders. There are also articles on irritability and obsessive compulsive behaviors (perseveration) adapted from earlier guides [Groves M 2011, Anderson KE 2011]. The box to the right has links to all articles in the series.

This first HDDW article will show:

  • Guidelines are important because symptom complications in HD are treatable
  • These guides were carefully developed following established rules for making guidelines
  • How guidelines should and should not be used
  • General recommendations that apply to all symptom complications in HD before a medical provider starts any treatment

Why is "Management" used in the title instead of "Treatment" of Neuropsychiatric symptoms? "Management" implies that treatments don't take care of 100% of the medical problem. Such is the case in the treatment of any neuropsychiatric symptom in HD, or in other diseases of impaired cognition and dementia, or other neuropsychiatric disease.

Why are HD symptom guidelines important? First and foremost, it gets the message out to medical providers and families that experts believe the symptoms in HD are treatable. This is important because there are some doctors and other medical providers who apparently believe there are no treatments for HD. A poignant recent example that followed the 2018 American Academy of Neurology (AAN) annual meeting: a prominent and respected neurologist (chairperson of the commitee that featured the IONIS Trial at AAN) described HD as a “diagnose and adios” disease, meaning that after the HD diagnosis is made, the only thing a doctor can do is say “adios” (Spanish for good-bye). Then to compound the injury, this doctor went on to say that depression in HD is "untreatable". And worse, this was broadcast to thousands of physicians through MedScape, the top on-line site for physician education.

Of course there is a lot more that can be done to treat individuals with HD, and it is simply not true that depression in HD is untreatable. Though not intended, this kind of thinking does our HD community a disservice. No wonder your average doctor may believe and communicate "untreatable" to patients and families. So just as in previous generations, doctors too often feel helpless and HD families feel hopeless waiting for the cure in the future.

How were the guides developed? The authors followed an established process set out by The Institute of Medicine for making trustworthy guidelines. The whole lengthy process is described in the published article. Psychiatrists expert in HD drawn from the Huntington Study Group (HSG) and the European Huntington Disease Network (EHDN) started the effort. The guidelines they proposed were validated by obtaining a high level of agreement, or consensus, among a larger number (80 or so) of international clinicians who are expert in HD. Consensus expert opinion was obtained, because there is not enough evidence from clinical trials that could be used to make recommendations for these symptoms in HD.

How these guides should, and should not be used Guidelines are meant to be tools for medical providers, telling them what the experts think is important to know, and what they usually do. Individuals with HD and their families or other carers can use these guidelines to learn about symptom complications of HD, and how the experts treat them. With this knowledge, individuals and families can advocate for better medical care based on these guidelines. However, these management guides are not meant to be used rigidly. Each individual with HD is unique, and what works for most may not work for an individual. Physician judgement with respect given to patient preference should take precedence over any guideline.

General Management of Symptoms Though intended for doctors these recommendations tell you what the doctor should address during the visit. Note that this author has changed some of the wording that appears in the journal article for purposes of making it more user friendly. If you wish to share with your medical provider, it would be best to copy the journal link [Anderson KE 2018] for the doctor's review.

Assessment Recomendations (what information a doctor should find out about before thinking about symptom treatment)

  1. Get information from both the patient and the carer, because individuals with HD may lack awareness of the symptom or how severe it is. This means carers need to speak up!
  2. Get information about other symptoms of HD, too, because if other symptoms are present this may make a difference for best treatment choice.
  3. Get information about other illnesses, because the symptom may be caused by a medical illness other than HD.
  4. Find out about what is happening in the patient's life situation, because external factors may be causing the symptom.

Information Recommendations (what information/education the doctor should give to you)

  1. Education about the nature of the symptom and how it presents in HD.
  2. Information about triggers of the behavior, and methods that might be helpful to manage the symptom.

Pharmacologic Recommendations (things the doctor and you should consider before prescribing a drug for any symptom)

  1. Drug choice in HD should be influenced by presence of other symptoms and stage of disease (because these make a difference to best choice drug).
  2. Consult with a psychiatrist knowledgable about HD if standard drug treatment fails (if you are so lucky to have such a doctor in your area).
  3. Regularly reassess whether a drug can be discontinued or the dose decreased (because you can't differentiate some drug side effects from disease progression unless dose reduction is tried). This is something that should be asked about after the symptom is controlled whether you suspect a side effect or not.

Though not a part of the formal recommendations, the drug chosen for treatment should have the lowest chance for side effects. If not volunteered by the doctor, individuals with HD and carers should ask about potential side effects. Drugs commonly used for the treatment in HD have side effects such as apathy, slowness of thinking, slowness of movement, worsening of swallowing and of balance leading to falls.

Author's summary of Introduction to Management of Neuropsychiatric Symptoms in Huntington's disease While we are all excited about ongoing clinical trials and hope for at least a partial cure, best available treatment for symptom complications of HD is very important for now. These guides can empower families to partner with their medical providers. The goal of these management guides is to encourage best treatments by all medical providers for these symptom complications based on expert opinion, with the goal to reduce symptom burden and improve quality of life for our families. We can hope for a future time when these guidelines are no longer needed.

References

Anderson KE, van Duijn E, Craufurd D, Drazinic C, Edmondson M, Goodman N, van Kammen D, Loy C, Priller J, Goodman LV. Clinical Management of Neuropsychiatric Symptoms of Huntington Disease: Expert-Based Consensus Guidelines on Agitation, Anxiety, Apathy, Psychosis and Sleep Disorders. J Huntingtons Dis. 2018;7(3):239-250. doi: 10.3233/JHD-180293. PubMed abstract

Groves M, van Duijn E, Anderson K, Craufurd D, Edmondson MC, Goodman N, van Kammen DP, Goodman L. An International Survey-based Algorithm for the Pharmacologic Treatment of Irritability in Huntington's Disease. PLoS Curr. 2011 Aug 30;3:RRN1259. PubMed abstract

Anderson KE, Craufurd D, Edmondson MC, Goodman N, Groves M, van Duijn E, van Kammen DP, Goodman L. An International Survey-based Algorithm for the Pharmacologic Treatment of Obsessive-Compulsive Behaviors in Huntington's Disease. PLoS Curr. 2011 Sep 20;3:RRN1261. PubMed abstract