Introduction

Definition of moyamoya disease

Moyamoya disease is a condition affecting the blood vessels in the brain. It occurs when there is a blockage of the blood vessels called arteries at the bottom part of the brain known as the basal ganglia.¹

The disease causes blockage of the carotid artery which supplies blood to the brain.² When this artery is blocked, the brain receives less blood and the body compensates by forming small, fragile blood vessels in the basal ganglia.² ‘Moyamoya’ is the Japanese translation of ‘puff of smoke’ which is what these small blood vessels look like because of their tangled nature.¹

The symptoms caused by Moyamoya disease are a result of this reduced blood flow.

Epidemiology and demographics

Although it can occur anywhere in the world, Moyamoya disease frequently affects East Asian populations.³ Some researchers believe that the greater incidence in these populations may point to a genetic factor of the disease.²

The peak ages of diagnosis are within the first 10 years of life and in the late 20s to 30s.³

Sex differences in who develops Moyamoya disease vary between countries.³

Importance of psychosocial support in chronic illnesses

As well as physical symptoms, Moyamoya disease can cause psychiatric symptoms. The mechanisms behind this are multifactorial. 

An example of this is thought to be cell destruction in a brain artery called the internal carotid artery - such destruction occurs due to strokes or brain bleeding. 

However, Moyamoya patients who haven’t experienced strokes may experience psychiatric symptoms due to suffering from depression or anxiety.

In addition, anxiety surrounding Moyamoya's symptoms, poor quality of life and struggles with cognitive impairment are also factors for patients developing psychiatric symptoms.⁴

This article will detail the psychosocial impact Moyamoya disease has on its patients, as well as the support in place to help individuals recover from such symptoms.

Understanding moyamoya disease

Pathophysiology

The cause of Moyamoya disease is unknown. The changes that occur in the arteries of the basal ganglia can be summarised as an irregular thickening of the innermost layer of the artery called the tunica intima and a thinning of the middle layer called the tunica media. This causes the blocked artery, and blood cannot pass as easily through the blood vessel. 

The condition may also be associated with changes (also known as mutations) in genes or have an autoimmune component.²

Genetic and environmental factors

As Moyamoya disease is most common in East Asian countries such as Japan, Korea and China, genetic factors may be involved. The same higher incidence is present in Asians living in Western countries therefore dismissing an environmental component.

Those with a family history of the condition are 30 to 40 times more likely to have Moyamoya disease than the average person.

Children are mostly affected by Moyamoya disease, especially those under 15.²

Symptoms and diagnosis

Symptoms vary between adults and children. Children often present with a stroke or a transient ischaemic attack (TIA) which causes weakness or paralysis on one side of the body.3 This can also occur in adults, however, most commonly they present with a haemorrhagic stroke because of a brain bleed.³

The Mayo Clinic lists the common symptoms of Moyamoya disease:

• Headaches
• Seizures
• Weakness or paralysis
• A change in vision
• Problems with speech or understanding speech, known as aphasia
• Uncontrollable movements
• Disturbed consciousness

Moyamoya disease can also cause cognitive symptoms (such as having issues with remembering things and solving problems) and developmental delays.²

Diagnostic procedures

The diagnosis of Moyamoya disease may be tiresome as it involves several tests and assessments. The Mayo Clinic highlights some of the tests that may be used which include:

• MRI scan: Possibly done with a dye injected into the artery to observe blood circulation. A perfusion MRI, which shows the volume of blood passing through blood vessels, in the brain may be used
• CT scan: Not for early stages of the disease, but can show later changes in blood vessels

Other tests which may be used are PET scans, EEGs or transcranial Doppler ultrasounds.

Treatment options

Treatment focuses on reducing the impact of symptoms and preventing strokes by improving blood flow. The Mayo Clinic describes the typical treatment:

Medical management

Medication such as blood thinners may be used in patients with mild or no symptoms to reduce the possibility of strokes occurring.

Calcium antagonists can help reduce headaches and manage blood pressure.

Anti-seizure medications may be necessary for patients experiencing seizures.

Surgical interventions

Revascularization procedures allow for blood to flow past the blocked arteries and into connecting arteries on the inside and outside of the skull. This can be done by two types of revascularization - direct or indirect.

Psychosocial impact of moyamoya disease

Individuals with Moyamoya disease are more likely to experience neuropsychological dysfunction. Cognition is affected in most patients, but less significantly in children. Memory and intellect aren’t usually affected.³

A study showed that the prevalence of psychiatric disorders in a sample of patients with Moyamoya disease was 38.7%. Mood disorders such as depression and anxiety disorders were the most common.⁵

Other studies have shown a higher incidence of poor stress management, conflicted interpersonal relationships and pessimism in patients with Moyamoya disease compared to the average.⁴

Components of psychosocial support for moyamoya patients

Counselling and therapy

A stroke can have emotional effects on Moyamoya patients and therefore doctors may recommend an assessment by a psychiatrist evaluating problems with thinking or reasoning.²  

With no surgical intervention, Moyamoya disease can lead to cognitive decline, so a psychiatrist may monitor this over a period of time.

Cognitive behavioural therapy is useful for dealing with emotions and fears surrounding future symptoms.²

Support groups

The Brain & Spine Foundation provides peer support groups in the UK and worldwide for people living with a neurological condition.

The salutogenic program, which attempts to improve health by tackling external stressors and strengthening resources which promote well-being, has been shown to be effective in improving the knowledge of adolescents about their Moyamoya disease, as well as the social support they receive. It has improved the quality of life of many patients by supporting healthier behaviours and reducing stress.⁵

 Educational support

The World Moyamoya Alliance attempts to educate the population on the disease and its treatments and provide funds for Moyamoya research. They aim to bring the community together through in-person and online events.

Implementing psychosocial support strategies

Role of healthcare providers

Doctors and nurses are essential for population education and patient support. The Moyamoya Foundation Co. targets healthcare professionals and people who can advocate for patients to allow for further research into the condition. They also support families with treatment expenses.

A multidisciplinary approach is essential in Moyamoya disease and it is important that professionals from all specialties are aware of this rare disease.

Family and caregiver involvement

Online resources can be helpful, yet there is yet to be a known support group for Moyamoya disease in the United Kingdom. However, Contact a Family provides a helpline for advice and information for patients and families.

Social media groups can offer comfort and practical tips from families experiencing similar situations.

Role of non-profit organisations

The Lucas Brand Moyamoya Foundation is currently the only charity in the United Kingdom that is raising awareness, educating and helping people and families affected by Moyamoya disease.

The foundation has useful information on Moyamoya disease and organises events to raise money.

Summary

Moyamoya disease causes blockage of the arteries of the brain at the basal ganglia. This leads to the formation of tiny blood vessels which attempt to compensate for the blockage and supply blood to the brain. However, due to how fragile these new blood vessels are, not enough blood reaches certain parts of the brain. 

The reduced blood flow in Moyamoya disease patients can cause physical symptoms such as headaches, strokes and seizures but can also lead to psychiatric symptoms. Individuals may be at greater risk of conditions such as anxiety and depression. Therapy and social support are recommended and charities work to provide patient education and support groups. However, greater awareness of the condition and further research is needed.