How is CADASIL treated?

Currently, there are no treatments to prevent, reverse or cure CADASIL. However, available treatments can improve a person’s quality of life.

Clinicians and researchers continue to explore options that may be available in future. Further information about the latest research can be found here. To see how you can assist with researchers with their studies, and help them better understand the health need of people with CADASIL, please click here.

Current treatment option and care focus on helping to relieve symptoms and to prevent further complications based on individual needs – every person affected by CADASIL has different needs and will have a different treatment plan. The aim of these treatments is to help improve a person’s quality of life. An important step in this process is having a proper and early diagnosis of CADASIL to confirm the origin and nature of any health effects experienced. This is important as the treatment options for people with CADASIL may be different to those recommended for people without CADASIL. For example, migraines can be experienced by people with or without CADASIL, but the medicines used may be different for those with CADASIL.

More research is needed to confirm the benefits and safety of available treatment options (medications and other therapies) for people with CADASIL.

Remember to never take any medication (including over-the-counter medicines, natural or herbal medicines, complementary or alternative medicines) or start any therapy without first consulting your clinician.

Treatments tend to focus on the management of headaches (migraines) and mental health effects, prevention of further strokes or heart attacks, and rehabilitation following a stroke.

Medications currently available for CADASIL-related symptoms include:

MIGRAINE

Treatment that CAN be used for an active migraine

Active migraines can be treated with pain relievers containing paracetamol, aspirin, and NSAIDs (non-steroidal anti-inflammatory drugs) such as ibuprofen, with or without the addition of codeine.

Treatments to AVOID in people with CADASIL

The group of medicines called “triptans” must be avoided as they are vasoconstrictors (medicines that can constrict or narrow blood vessels) and can restrict blood flow to the brain and heart. By restricting blood flood they can increase the risk of a stroke or heart attack in a person with CADASIL. ‘Triptan’ medicines that must be avoided include: sumatriptan (Imigran™ and other brands), zolmitriptan (Zomig™), naratriptan (Naramig™), rizatriptan (Maxalt™) and eletriptan (Relpax™).

SEIZURES and EPILEPSY

Treatment that CAN be used to prevent recurrences of seizures

 

Conventional anti-seizure medications can be used in people with CADASIL. A range of agents are available in Australia to treat seizures –  the doctor will help advise on which agent is best suited for each individual, depending on the type of seizure they have and their overall health. Options include: Carbamazepine, Gabapentin, Lamotrigine, Levetiracetam, Phenytoin, Pregabalin, Topiramate, Topamax, Valproic Acid/ Sodium Valproate, Tiagabine Hydrochloride, Zonisamide.

 

 

Treatment that CAN be used to prevent recurrences of migraine

For people who experience multiple, repeating episodes of migraine, medications may be used to prevent them from recurring. This will be prescribed following specialist advice. Options include: sodium valproate, topiramate, gabapentin, propranolol, and tricyclic antidepressants. Acetazolamide, an older-style medicine which dilates blood vessels, has also been used.

ANXIETY and DEPRESSION (MENTAL HEALTH)

Commonly used anti-depressant medications can be used to treat depression or anxiety in people with CADASIL. This includes medicines called: Selective serotonin reuptake inhibitors (SSRIs) (e.g., citalopram; escitalopram, fluoxetine, fluvoxamine, paroxetine, sertraline); Serotonin and noradrenaline reuptake inhibitors (SNRIs) (e.g., desvenlafaxine, duloxetine, venlafaxine) and tricyclic antidepressants (e.g., amitriptyline, clomipramine, dothiepin, doxepin, imipramine, nortriptyline).

It is recommended that people experiencing any mental health symptoms use these medicines together with cognitive behaviour therapy (CBT) from a psychologist, psychiatrist, or other qualified, professional counsellor.

Genetic counselling may also be of benefit for affected individuals and their families.

COGNITIVE IMPAIRMENT (MEMORY IMPAIRMENT and DEMENTIA)

There are very few treatment options for memory impairment or dementia in people with CADASIL. To date, the medication called donepezil Aaricept™), which is also known as an acetylcholinesterase inhibitor and which is commonly used for Alzheimer’s Disease, may have a role in improving aspects such as concentration and attention. However, research to date has not proven that this medication can improve cognitive impairment overall.

APATHY

Treatments that MIGHT be used in future to improve apathy

Apathy (loss of motivation) is a common sign of CADASIL, but it is not always due to depression. There are currently no approved medications to treat apathy, but a few treatments are currently being studied. One example is modafinil (sometimes called a ‘smart drug’, which has also been used to increase wakefulness in people with sleep disorders). Further study is needed.

Medications currently available or being explore to prevent CADASIL-related complications include:

BLOOD CLOTS (that can cause TIA/ mini-stroke / stroke / heart attack)

Treatment that CAN be used to prevent clots and recurrent strokes/heart attacks

To prevent blood clots and reduce the risk for further strokes or heart attacks, anti-clotting medicines are needed. A special type of anti-clotting medicines – called anti-platelet agents – can be used to prevent certain blood cells (called platelets) from clumping together to form clots.

The most commonly used antiplatelet medicine is aspirin, which has been shown to reduce the risk of further stroke in the general population, Although we don’t know exactly how effective it is in people with CADASIL, aspirin is commonly used as a key treatment to reduce the risk of future clots. The doses of aspirin used to prevent clots are much lower than the aspirin doses used to treat pain, inflammation or fever – it is important to take a low dose to avoid stomach upset and ulcers with long-term use. For anti-clotting benefits, most people will be prescribed a low dose of 75 – 300mg daily, with or after food.

Other anti-platelet medicines that can be used are clopidogrel (Plavix™) and dipyridamole (Persantin™).

Treatments to AVOID in people with CADASIL

Warfarin is another type of anti-clotting medicine that is commonly used to prevent strokes in the general population. But, warfarin should generally be avoided in people with CADASIL as it may increase the risk of bleeding within the brain. Warfarin should only be used if there is another medical reason for it (such as atrial fibrillation), and only on specialist advice.

For people who experience clots and require urgent treatment because they have had a stroke or heart attack, thrombolytic agents (clot-dissolving medications) must never be used. These medicines can increase the risk of bleeding in the brain for those with CADASIL.

REDUCED BLOOD FLOW

Treatments that MIGHT be used in future to improve blood flow and circulation

A number of medicines have been tested or are being tested to see if they can help improve blood flow and circulation in people with CADASIL, to help prevent complications. There are currently no proven treatments for this just yet.

To date, agents such as acetazolamide, L-arginine have shown some improvement in blood flow, but further study is needed. Agents such as atorvastatin and sapropterin have been studied but not proven to work.

Studies are underway to explore novel agents such as stem cell factors and granulocyte-colony stimulating factors.

Using medicines for other health issues (not related to CADASIL)

Of course, people affected by CADASIL may have other health care needs. It is important to seek advice from a health professional before starting any treatments to make sure that they are safe to use.

For example, in women with CADASIL who are of child-bearing age, certain combined oral contraceptive pills (birth control tablets) should be avoided as the higher levels of hormones in them may increase the risk of clotting, leading to stroke or heart attack. Oral contraceptive pills containing less than 50 micrograms of oestrogen are safer options. Otherwise, barrier methods of contraception (e.g., use of condoms) should be used. Likewise, hormone replacement therapy (HRT) involving higher doses of oestrogen should also be avoided.

At times, people with CADASIL may need to have special diagnostic tests or surgery. Some of these procedures may require the use of certain agents. It is important that specialists are aware of CADASIL as procedures such as cerebral angiography ( a type of X-ray/scan of the blood vessels around the brain, which involves an injection of contrast dye) and the use of certain anaesthetics (numbing agents) may affect the blood vessels and circulation, increasing the risk of complications.

Besides medication, what else is part of the treatment plan?

Many of the complications relating to CADASIL are cardio-vascular – in other words, complications affecting the heart, blood vessels, and circulation, such as stroke and heart attack. For this reason, it is important to minimise any other risk factors that can also affect the heart, blood vessels and circulation such as hypertension (high blood pressure in the vessels), hypercholesterolaemia (high cholesterol levels in the circulation), and diabetes (high blood glucose/sugar levels in your blood). It is important to regularly check blood pressure, cholesterol, and blood glucose levels – these days, there is a range of convenient options to choose from, including:

  • Testing in your local doctor’s office (your General Practitioner, Practice Nurse/ Nurse Practitioner may do this for you)
  • Testing in your local community / retail pharmacy (your community pharmacist may do this for you)
  • Testing in your Specialist Doctor’s office (your specialist may check these for you)
  • Self-testing (you can purchase or hire your own blood pressure or blood glucose testing device to measure these in the comfort of your own home)

Regular testing will help people understand what factors can worsen or improve their blood pressure, cholesterol, and blood glucose levels, and help them better manage these.

Maintaining a healthy lifestyle, through regular exercise, good food choices (diet) and keeping a health weight, are just as important and effective as taking medication. Stopping cigarette smoking is also important as smoking has been shown to damage the blood vessels. Your doctor or pharmacist can advise about smoking cessation products.

Various supportive therapies are also available to help improve functioning after complications (e.g., stroke) arising from CADASIL. These include: physiotherapy, speech therapy, occupational therapy, and other counselling, which are offered in both hospital and community settings.

Contact ACSN

Please feel free to contact us with any questions or enquiries you have