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Cavernous Hemangioma

Disease Details

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Description: Cavernous hemangioma is a benign vascular tumor composed of large, dilated blood vessels.
Type: Cavernous hemangioma is a type of vascular malformation, specifically a cavernous malformation. It is often sporadic but can also be inherited in an autosomal dominant pattern.
Signs And Symptoms: Cavernous hemangioma, also known as cavernoma, is a type of blood vessel malformation characterized by large, dilated vascular channels. Here are the signs and symptoms:

### Signs and Symptoms:
- **Neurological Symptoms:** These may include seizures, headaches, weakness, numbness, vision changes, and balance or coordination problems.
- **Hemorrhage:** Bleeding within the brain can occur, leading to sudden and severe symptoms such as acute headache, loss of consciousness, or neurological deficits.
- **Silent Lesions:** Many cavernous hemangiomas are asymptomatic and are discovered incidentally during imaging for other conditions.

Symptoms often depend on the lesion’s location in the brain, spinal cord, or other tissues involved.
Prognosis: A few studies have worked on providing details related to the outlook of disease progression. Two studies show that each year 0.5% of people who have never had bleeding from their brain cavernoma, but had symptoms of seizures, were affected by bleeding. In contrast, patients who have had bleeding from their brain cavernoma in the past had a higher risk of being affected by subsequent bleeding. The statistics for this are very broad, ranging from 4–23% a year. Additional studies suggest that women and patients under the age of 40 are at higher risk of bleeding, but similar conducted studies did not reach the same conclusion. However, when cavernous hemangiomas are completely excised, there is very little risk of growth or rebleeding. In terms of life expectancy, not enough data has been collected on patients with this malformation in order to provide a representative statistical analysis.
Onset: Cavernous hemangiomas, also known as cavernomas or cavernous malformations, can be congenital, meaning they are present at birth. Symptoms may not appear until later in life, often between the ages of 20 and 40. They can remain asymptomatic or present with neurological symptoms like seizures, headaches, or focal neurological deficits if they occur in the brain. The onset of symptoms can be sudden, sometimes triggered by bleeding within the hemangioma.
Prevalence: The prevalence of cavernous hemangioma, also known as cavernous angioma or cavernoma, varies widely. It is estimated that about 0.1% to 0.5% of the general population may have these vascular malformations, although many cases remain undiagnosed due to the lack of symptoms.
Epidemiology: The true incidence of cavernous hemangiomas is difficult to estimate because they are frequently misdiagnosed as other venous malformations. Cavernous hemangiomas of the brain and spinal cord (cerebral cavernous hemangiomas (malformations) (CCM)), can appear at all ages but usually occur in the third to fourth decade of a person's life with no sexual preference. In fact, CCM is present in 0.5% of the population. However, approximately 40% of those with malformations have symptoms. Asymptomatic individuals are usually individuals that developed the malformation sporadically, while symptomatic individuals usually have inherited the genetic mutation. The majority of diagnoses of CCM are in adults; however, 25% of cases of CCM are children. Approximately 5% of adults have liver hemangiomas in the United States, but most are asymptomatic. Liver hemangiomas usually occur between the ages of 30–50 and more commonly in women. Cases of infantile liver cavernomas are extremely rare. Cavernous hemangioma of the eye is more prevalent in women than men and between the ages of 20–40.
Intractability: Cavernous hemangioma, also known as cavernous angioma, is generally not considered intractable. These benign vascular lesions can often be managed effectively. Treatment may include observation, especially if the hemangioma is asymptomatic, or surgical intervention and other therapies if it causes symptoms or complications. However, the approach depends on the location, size, and symptoms associated with the hemangioma.
Disease Severity: Cavernous hemangioma, also known as cavernous angioma or cavernoma, is typically a benign vascular lesion composed of clusters of dilated blood vessels. While many cases are asymptomatic and discovered incidentally, the severity can vary based on the lesion's location, size, and whether it bleeds.

1. If located in the brain or spinal cord, it can lead to neurological symptoms such as headaches, seizures, or focal neurologic deficits.
2. Bleeding can result in hemorrhagic stroke or other significant complications, though this is less common.
3. Multiple or recurrent lesions may increase the risk of symptoms and complications.

Thus, the severity ranges from minor and asymptomatic to potentially serious, particularly if complications such as bleeding occur. Regular monitoring and medical evaluation are essential to manage and assess the risk of progression or complications.
Healthcare Professionals: Disease Ontology ID - DOID:483
Pathophysiology: Cavernous hemangiomas, also known as cavernous venous malformations, are a type of vascular malformation composed of large, blood-filled vascular channels. They can occur in various organs, including the liver, brain, and skin. The exact pathophysiology involves the following processes:

1. **Abnormal Vessel Formation**: There is an overgrowth of endothelial cells leading to the formation of large, dilated blood vessels.
2. **Genetic Mutations**: Mutations in certain genes, such as CCM1, CCM2, and CCM3, have been identified in familial cases. These mutations disrupt normal blood vessel formation and stability.
3. **Vascular Leakage and Hemorrhage**: Due to the fragility of the malformed vessels, there is a tendency for leakage and hemorrhage, which can contribute to clinical symptoms depending on the location.
4. **Inflammatory Response**: Chronic low-grade inflammation may occur around the hemangioma, potentially worsening the condition.

In the liver, these malformations are often asymptomatic but can sometimes cause pain or fullness. In the brain, they can lead to seizures, headaches, or neurological deficits. No specific correlation with nanotechnology (nan) is established in the conventional understanding of the pathophysiology of cavernous hemangiomas.
Carrier Status: Cavernous hemangioma, also known as cavernous angioma or cavernoma, is a type of vascular malformation characterized by abnormally large blood vessels, forming benign tumors predominantly in the brain and spinal cord.

Carrier Status: Cavernous hemangioma can sometimes be inherited in an autosomal dominant manner, meaning a single copy of the mutated gene from an affected parent could increase the risk of developing the condition. However, many cases are sporadic with no clear genetic link.

Nan: Not applicable.
Mechanism: There are several known causes for cavernous hemangiomas, but some cases are still unknown. Radiation treatment used for other medical conditions has been suggested to cause cavernous malformation in some patients.
Hemangioma tumors are a result of rapid proliferation of endothelial cells and pericytic hyperplasia, or the enlargement of tissue as a result of abnormal cell division pericytes. The pathogenesis of hemangioma is still not understood. It has been suggested that growth factors and hormonal influences contribute to the abnormal cell proliferation. Cavernous liver hemangiomas are more commonly diagnosed in women who have been pregnant. As a result of this, it is believed that estrogen levels may play a role in the incidence of liver cavernomas.

Genetic studies show that specific gene mutations or deletions are causes for the disease. The genes identified for cerebral cavernous hemangiomas (or malformations), are CCM1 (also KRIT1), CCM2 (also MGC4607, malcavernin) and CCM3 (also PDCD10). The loss of function of these genes is believed to be responsible for cerebral cavernous malformations. Furthermore, it is also believed that a "second hit mutation" is necessary for the onset of the disease. This means that having a mutation in one of the two genes present on a chromosome is not enough to cause the cavernous malformation, but mutation of both alleles would cause the malformation. Additionally, research on hemangiomas in general has shown that loss of heterozygosity is common in tissue where hemangioma develops. This would confirm that more than a single allele mutation is needed for the abnormal cell proliferation. KRIT1 has been shown to act as a transcription factor in the development of arterial blood vessels in mice. CCM2 has overlapping structure with CCM1 (KRIT1) and acts as a scaffolding protein when expressed. Both genes are involved with MAP3K3 and thus appear to be a part of the same pathway. CCM2 has been shown to cause embryonic death in mice. Lastly, the CCM3 gene has been shown to have similar expression to CCM1 and CCM2, suggesting a link in its functionality. Currently, no experiments have determined its exact function. The lack of function of these genes in control of a proliferative signaling pathway would result in uncontrolled proliferation and the development of a tumor. In 2018, it was theorized that proliferation of endothelial cells with dysfunctional tight junctions, that are under increased endothelial stress from elevated venous pressure provides the pathophysiological basis for cavernous hemangioma development.
Treatment: Asymptomatic lesions may not require treatment but may need to be monitored for any change in the size. A change in size of lesions in the nose, lips, or eyelids can be treated with steroid drugs to slow its progress. Steroids can be taken orally or injected directly into the tumor. Applying pressure to the tumor can also be used to minimize swelling at the site of the hemangioma. A procedure that uses small particles to close off the blood supply is known as sclerotherapy. This allows for tumor shrinkage and less pain. It is possible for the tumor to regrow its blood supply after the procedure has been done. If the lesion caused by the cavernous hemangioma is destroying healthy tissue around it or if the patient is experiencing major symptoms, then surgery can be used to remove the cavernoma piecemeal. A common complication of the surgery is hemorrhage and the loss of blood. There is also the possibility of the hemangioma reoccurring after its removal. Additionally, the risk of a stroke or death is also possible.Treatments for cerebral cavernous hemangiomas include radiosurgery or microsurgery. The treatment approach depends on the site, size and symptoms present, as well as the history of hemorrhage from the lesion. Microsurgery is generally preferred if the cerebral cavernous hemangioma is superficial in the central nervous system, or the risk of damage to surrounding tissue from irradiation is too high. Additionally, a large hemorrhage with deterioration of the patient or intractable symptoms (such as seizures or coma) are further indications for microsurgical intervention. Gamma-knife radiation is the favored mechanism of radiosurgery. It provides a precise radiation dose to the cerebral cavernous hemangioma while relatively sparing the surrounding tissue. These treatment approaches for cavernous hemangiomas in other regions of the body have limited research.
Compassionate Use Treatment: For cavernous hemangioma, compassionate use treatment and off-label or experimental treatments can be considered in specific situations.

1. **Compassionate Use Treatments**:
- These are treatments provided to patients under special circumstances when no other options are available and the patient is severely ill. Generally, compassionate use treatments may include investigational drugs or therapies that have not yet been approved by regulatory authorities for widespread use.

2. **Off-label Treatments**:
- **Propranolol**: A beta-blocker commonly used for hypertension is sometimes prescribed off-label for managing cavernous hemangiomas, especially in infants, as it has shown effectiveness in shrinking these vascular anomalies.
- **Corticosteroids**: Dexamethasone or prednisone may be used off-label to reduce inflammation and minimize the size of hemangiomas.
- **Interferon-alpha**: Occasionally used off-label, this immunotherapy drug can inhibit the growth of hemangiomas.

3. **Experimental Treatments**:
- **Sirolimus (Rapamycin)**: Initially an immunosuppressant, Sirolimus has shown promise in clinical trials for treating vascular anomalies, including cavernous hemangiomas.
- **Targeted Molecular Therapies**: Experimental treatments that focus on specific molecular pathways involved in hemangioma growth are under investigation.
- **Gene Therapy**: Research is ongoing into gene therapies that could potentially treat or manage cavernous hemangiomas by correcting the underlying genetic mutations.

These treatments are subject to ongoing research, and their use should be closely monitored by healthcare professionals.
Lifestyle Recommendations: Cavernous hemangioma is a type of benign vascular tumor often found in the liver or brain. While these tumors are usually asymptomatic and may not require treatment, maintaining a healthy lifestyle can help manage overall well-being. Here are some general lifestyle recommendations:

1. **Regular Medical Check-ups**: Regular follow-up with a healthcare provider to monitor the hemangioma and any potential growth or changes.
2. **Healthy Diet**: Consume a balanced diet rich in fruits, vegetables, whole grains, lean proteins, and healthy fats to support overall health.
3. **Avoid Alcohol**: If the hemangioma is in the liver, it's advisable to minimize alcohol intake to reduce liver strain.
4. **Exercise**: Engage in regular physical activity to maintain overall body health. Ensure the exercise regimen is appropriate and not overly strenuous.
5. **Manage Stress**: Practice stress-reducing techniques such as meditation, yoga, or deep-breathing exercises.
6. **Avoid Anticoagulants**: Unless prescribed by a doctor, avoiding medications that can thin the blood, as they may increase the risk of bleeding.
7. **Know the Symptoms**: Be aware of symptoms that could indicate complications, such as severe pain, unexplained weight loss, or neurological changes, and seek medical attention if these occur.

Individual recommendations may vary, so consulting a healthcare provider for personalized advice is essential.
Medication: For cavernous hemangioma, medication is generally not a primary treatment option. Treatment typically involves monitoring, and if necessary, surgical removal or other interventions like stereotactic radiosurgery. Medications are not commonly used to treat this condition directly. For symptom management, such as seizures or headaches associated with cavernous hemangiomas, anti-seizure medications or pain relievers may be prescribed.
Repurposable Drugs: There isn't a specific list of repurposable drugs for cavernous hemangioma as this condition typically involves vascular malformations that may require surgical intervention or other localized treatments. Therapeutic approaches can vary, and the efficacy of repurposed drugs would depend on individual cases. Current treatments often rely on monitoring, corticosteroids, or in some cases, laser therapy. For specific guidance, consultation with healthcare professionals is recommended.
Metabolites: Cavernous hemangioma, a type of benign vascular tumor composed of large, dilated blood vessels, does not have specific metabolites uniquely associated with it. Diagnosis and monitoring typically rely on imaging techniques such as MRI or CT scans rather than metabolic markers. If you're referring to some other context like treatment effects or metabolic implications, please provide further details.
Nutraceuticals: There is limited evidence to support the use of nutraceuticals specifically for the treatment of cavernous hemangioma. Management typically focuses on monitoring, and in some cases, surgical intervention or other medical treatments may be considered, especially if the hemangioma causes symptoms or complications. Always consult healthcare professionals for tailored advice and treatment options.
Peptides: Cavernous hemangioma, also known as cavernous angioma or cavernoma, is a type of blood vessel malformation characterized by clusters of dilated blood vessels. As of now, there are no specific peptides or nanotherapies that are widely recognized or approved for the treatment of cavernous hemangiomas. Current treatment options primarily include medical management for symptom relief and surgical interventions for lesion removal in symptomatic cases.