Overview
Cavernous malformations, also known as cerebral cavernous malformations (CCMs), are groups of tightly packed, abnormal small blood vessels with thin walls. They are present in the brain or spinal cord and contain slow-moving blood that is usually clotted. Cavernous malformations resemble a small mulberry in appearance and can cause issues in the brain or spinal cord due to the leaking of blood in some individuals. They vary in size from less than a quarter of an inch to 3 to 4 inches. These malformations can occur sporadically or be inherited through a mutation in specific genes, such as KRIT1 (CCM1), CCM2, or PDCD10 (CCM3). Inherited cavernous malformations are more likely to cause multiple malformations and recurrent bleeding, which may lead to progressive neurological damage.
Understanding the disease
Symptoms
The symptoms of cavernous malformations depend on the location and size of the malformation. They can include bleeding, seizures, headaches, and neurological deficits, which affect speech, vision, balance, memory, and other abilities. Some people with cavernous malformations may have no symptoms and only discover them through imaging tests for another condition. Roughly 20% of affected individuals have a genetic form of the disorder called familial cavernous malformation syndrome, which can lead to multiple cavernous malformations.
Risk Factors
The risk factors for developing cavernous malformations include having a family history of the condition and the inherited form of the disorder (familial cavernous malformation syndrome). In many cases, people with the inherited form can identify similarly affected family members, most often with multiple malformations. A diagnosis of the inherited form can be confirmed by genetic testing. Additionally, radiation to the brain or spinal cord may also result in CCMs 2 to 20 years afterward. However, there are no known risk factors for spinal arteriovenous malformation. The condition occurs equally in men and women.
Development
Cavernous malformations (CCMs) develop when blood vessels in the brain or spinal cord form abnormally, resulting in clusters of tightly packed, thin-walled blood vessels with slow-moving blood. These malformations contain leaked blood and can lead to complications due to recurrent bleeding, causing hemorrhagic strokes and progressive neurological damage. The three genetic variants identified so far, KRIT1 (CCM1), CCM2, and PDCD10 (CCM3), are responsible for inherited cavernous malformations, accounting for almost all familial cases. Mutations in these genes affect communication between cells and blood vessel integrity, contributing to CCM formation. In summary, cavernous malformations develop due to genetic mutations that cause abnormal blood vessel formation, leading to clusters of malformed blood vessels in the brain or spinal cord.
Assessment and Diagnosis
Triage
If you or your child have any of the signs and symptoms associated with cavernous malformation, such as changes in breathing pattern, swallowing problems, quick downward eye movements, weakness in the arms, or Chiari malformation, you should see a doctor for an evaluation. A thorough medical evaluation is important as many symptoms of cavernous malformation can also be associated with other disorders.
Diagnosis
To diagnose cavernous malformations, health care providers may use various tests and imaging techniques. The diagnosis often arises from brain imaging performed for other neurological conditions. Specific symptoms may prompt health care providers to pursue more extensive testing. The tests may include diagnostic imaging, such as radiology, to identify changes in the blood vessels, or functional MRI to measure blood flow in the active parts of the brain. Tractography can also be used to create a map of the brain for safer surgery.
Management and Treatment
Complications
Potential complications of cavernous malformations include recurrent bleeding, which may cause a hemorrhagic stroke and lead to progressive neurological damage. Bleeding is more likely to recur in people with prior diagnosed hemorrhages or malformations located in the brainstem. Other complications may include difficulty with movement, pain, tingling and numbness, spinal column deformity, bulging blood vessels (aneurysm), high blood pressure in the veins (venous hypertension), fluid accumulation (edema), tissue death due to lack of oxygen (spinal cord infarction), and hemorrhage.
Home Remedies
It is important to note that cavernous malformations are a serious medical condition requiring proper evaluation, diagnosis, and treatment by healthcare professionals. Home remedies are not recommended and should not replace medical advice or interventions. Consult a healthcare professional for appropriate guidance and management of cavernous malformations.
Treatment
Cavernous malformations, also known as cerebral cavernous malformations (CCMs), can be treated through various methods depending on the specific case and symptoms. The following treatments may be considered:
- Observation: If you are not experiencing symptoms, your doctor may choose to monitor the malformation through regular testing with an MRI. Report any changes in symptoms to your doctor immediately.
- Medications: Anticonvulsant medications may be prescribed to manage seizures associated with cavernous malformations.
- Counseling: Discuss with your doctor how other medical conditions, lifestyle factors, and medications may impact CCMs.
- Surgery: Surgery may be recommended if the malformation is causing symptoms and can be safely reached. Advanced imaging techniques, such as functional MRI and tractography, may be used to aid in surgical planning. The outlook for cavernous malformations depends on factors like size, growth, and whether symptoms are present. Some CCMs may not cause any symptoms, while others can lead to serious bleeding in the brain. Remember to consult with a healthcare professional to determine the best course of treatment for your specific situation.
Preparing for medical consultation
To prepare for an appointment for cavernous malformations, you should:
- Make a list of your symptoms: Note any signs or symptoms you have experienced, such as seizures, headaches, or weakness in specific areas of your body.
- Gather medical records: Collect any imaging reports, test results, or medical records related to your condition.
- Prepare a list of questions: Compile a list of questions to ask your doctor, including questions about diagnosis, treatment options, potential risks, and lifestyle changes that may be necessary.
- Discuss concerns with your doctor: Be open about your concerns and any fears you may have about the condition or potential treatments.
- Be prepared to discuss your family history: Inform your doctor about any family history of cavernous malformations or related conditions, as genetic testing may be recommended.
- Consider taking a family member or friend: Having a support person with you can be helpful, especially when processing information and asking follow-up questions. Remember to be proactive in your communication with your doctor and don't hesitate to ask for clarification or further information if needed.