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From asymptomatic to severe complications: How do symptoms of CCM quietly appear in patients?
Cerebral vascular malformation, known as cerebral cavernoma (CCM), is a tumor that originates in the central nervous system and resembles a hemangioma. Unlike traditional hemangioma, CCM is composed of dilated blood vessels and large vascular channels that are poorly enclosed and often interdigitated with deep tissue. The lesion area has only one layer of endothelial cells and lacks nerve tissue. These thin-walled vascular structures appear as sinusoidal cavities filled with quiescent blood. As the disease progresses, the patient's symptoms may appear from scratch, or even lead to serious complications, making the condition complex and unpredictable.
Most CCM lesions are located in the brain, but any organ can be affected.
Symptoms and signs of CCM
Clinical symptoms of CCM often include recurring headaches, local neurological deficits, cerebral hemorrhage, and epilepsy, but sometimes the lesions may not have any obvious symptoms. The specific location of the lesion will directly affect the nature and severity of its symptoms. For some patients, these conditions may creep in over several years, eventually causing concern and anxiety.
Association between CCM and venous hemangioma
In approximately 30% of CCM cases, venous vascular malformations (ie, developmental venous anomalies) may occur simultaneously. These venous abnormalities can appear as enhanced thread-like blood vessels or tree-like hair-like structures that resemble the hairstyle of Medusa from Greek mythology.
These lesions are considered developmental abnormalities of normal venous drainage and should not be removed as venous infarction has been reported.
The relationship between genetics and CCM
Familial CCM occurs at three known genetic loci. The CCM1 gene encodes KRIT1 (Krev interaction trap 1), which was found to bind to ICAP1alpha (integrin cytoplasmic domain-associated protein alpha), a protein that interacts with β1 integrin.
Mechanism and diagnosis
Exploration of the molecular mechanisms of CCM revealed that endothelial cells in these lesions may undergo endothelial to mesenchymal transition, and immune coagulation and hypoxia were also found to be inappropriately regulated in CCM. Diagnosis is usually by magnetic resonance imaging (MRI), which uses gradient echo sequence imaging to reveal small or punctate lesions.
Quiet CCM is often discovered unexpectedly on MRI, highlighting its potential asymptomatic development.
Treatment and incidence
For symptomatic CCM, treatment is usually limited to surgery, depending on the specific location of the lesion. There are currently no drugs available to treat CCM. According to statistics, the incidence of CCM in the general population is about 0.5%, and clinical symptoms usually appear between the ages of 20 and 30.
Future Outlook
With the deepening of research, the understanding of CCM is increasing, but there are still puzzles to be solved. The association between invisible lesions and potential side effects will be a challenge that the medical community needs to face in the future. What factors will cause CCM to progress from asymptomatic to severe stage, and how will it affect the patient's quality of life in the course of life?
