Smoke Disease: Causes, Treatments, and Genetic Concerns

Smoke disease

Dr.
Chen would like to ask the following questions:
1.
What is smoke disease?
2.
What are the causes of smoke disease? (Some doctors suggest it may be a sequela of an untreated cold.)
3.
Besides taking aspirin, what else can help with the condition?
4.
I have undergone bypass surgery and had a small amount of muscle taken from the scalp to assist with blood vessel growth in the brain.
However, after the surgery, I sometimes feel lightheaded when I am nervous or overly happy.
Is this normal?
5.
Is this condition hereditary? Thank you for your answers.

Xue, 20~29 year old female. Ask Date: 2003/09/19

Dr. Chen Shunsheng reply Rare Disease

Moyamoya disease, commonly referred to as "moyamoya angiopathy," was named by Japanese physician Dr.
Suzuki in 1969.
Moyamoya disease is a chronic cerebrovascular occlusion, primarily affecting the internal carotid arteries, which are the main arteries supplying blood to the brain.
As a result, the brain relies on small collateral circulation for blood supply.
Over time, this collateral supply becomes insufficient, leading to various neurological symptoms.
A significant portion of this disease occurs in childhood, causing strokes that result in limb weakness.
If this cerebrovascular occlusion is not addressed promptly, it can progress into adulthood and potentially lead to severe intracerebral hemorrhage.
The causes of moyamoya disease include a 7% hereditary component, with other etiologies such as neurofibromatosis, tuberculous meningitis, syphilis, optic nerve glioma, sickle cell anemia, previous radiation therapy, brain tumors, craniopharyngioma, Fanconi anemia, and Down syndrome, among others.
The pathogenic mechanisms of moyamoya disease are still debated, but it is thought to involve chronic inflammation in the neck, leading to sympathetic nervous system dysregulation and subsequent internal carotid artery occlusion.
Pathological examination reveals hyperplasia and thickening of the arterial intima, resulting in internal carotid artery blockage.
Symptoms of moyamoya disease primarily manifest as recurrent ischemic strokes in children, while adults typically experience hemorrhagic strokes.
Common symptoms include headaches, seizures, and limb weakness or numbness due to multiple ischemic strokes.
Diagnosis of moyamoya disease can be made through computed tomography (CT) scans, which reveal stroke lesions and the presence of abnormal surface vessels in the brain.
However, the most definitive diagnosis is obtained through cerebral angiography.
Treatment options are limited to symptom management with medications, while surgical interventions primarily involve encephalo-duro-arterio-synangiosis.
This technique involves suturing superficial arteries from both sides to the brain surface, promoting the formation of new blood vessels and increasing cerebral blood flow.

Reply Date: 2003/09/19

More Info

Understanding Smoke Disease: Causes, Treatments, and Genetic Concerns
1. What is Smoke Disease?
Smoke disease, commonly known as Moyamoya disease, is a rare cerebrovascular disorder characterized by the progressive stenosis (narrowing) of the internal carotid arteries and their major branches. This condition leads to the formation of a network of tiny blood vessels that attempt to compensate for the reduced blood flow to the brain, which is visually reminiscent of a "puff of smoke" on angiographic images, hence the name "Moyamoya," which means "puff of smoke" in Japanese. The disease can result in various neurological symptoms, including transient ischemic attacks (TIAs), strokes, and cognitive impairments due to insufficient blood supply to the brain.

2. What are the Causes of Smoke Disease?
The exact cause of Moyamoya disease remains unclear. However, it is believed to involve a combination of genetic and environmental factors. Some studies suggest that it may be associated with certain genetic predispositions, particularly in individuals of Asian descent. Additionally, there are hypotheses that prior infections, such as those causing severe respiratory illnesses in childhood, may contribute to the development of the disease, although this remains a topic of ongoing research. Other potential risk factors include autoimmune diseases and certain syndromes, such as Down syndrome and neurofibromatosis.

3. What Treatments are Available Beyond Aspirin?
The primary treatment for Moyamoya disease is surgical intervention aimed at restoring blood flow to the brain. This can include procedures such as direct or indirect revascularization. Direct revascularization involves connecting a healthy blood vessel to the affected area of the brain, while indirect revascularization promotes the growth of new blood vessels by placing a healthy tissue flap on the surface of the brain. In addition to surgical options, medications like aspirin are often prescribed to reduce the risk of stroke. Other treatments may include anticoagulants, statins, and medications to manage symptoms such as headaches or seizures.

4. Is it Normal to Feel Lightheaded After Surgery?
Experiencing feelings of lightheadedness or dizziness after undergoing surgery for Moyamoya disease can be relatively common. These sensations may be attributed to various factors, including changes in blood flow dynamics, postoperative recovery, or even emotional responses to stress and excitement. It is essential to communicate these symptoms to your healthcare provider, as they can assess whether these feelings are part of the normal recovery process or if they indicate a need for further evaluation.

5. Will This Disease Be Inherited?
Moyamoya disease has been observed to have a familial component, suggesting that genetic factors may play a role in its development. However, the inheritance pattern is not straightforward, and not all cases are familial. While having a family history of Moyamoya disease may increase the risk, it does not guarantee that future generations will develop the condition. Genetic counseling may be beneficial for families concerned about the hereditary aspects of the disease.

In summary, Moyamoya disease is a complex condition with multifactorial causes, including potential genetic predispositions and environmental influences. Treatment primarily involves surgical options to restore blood flow, and while some symptoms may be experienced postoperatively, they should be discussed with a healthcare provider. Understanding the hereditary nature of the disease can provide insight into potential risks for future generations, but it is essential to approach this with the understanding that not all cases are inherited.

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