Cavernoma

Classification according to ICD-10
D18.0	Hemangioma, any location
Q28.3	Other malformations of the cerebral vessels
ICD-10 online (WHO version 2019)

The cavernoma ( lat. Haemangioma cavernosum ) is an arteriovenous malformation , i.e. a vascular malformation, and can in principle occur in all tissues. Cavernomas of the central nervous system, i.e. the brain and the spinal cord, are primarily of clinical relevance . In the English-language scientific literature, the terms cerebral cavernous malformation (CCM) and cavernoma are used synonymously.

frequency

Cerebral cavernous malformations are mostly not hereditary and occur in around 0.5 percent of the population. However, malformations in the brain can occur due to mutations inherited from the family in the genes CCM1, CCM2 or CCM3. About one in 3000 people suffers from this. The mutation in the CCM3 gene is associated with an early onset and a severe course. On autopsy , asymptomatic cavernomas of the central nervous system are found in 0.3–1% of cases. Cavernomas are sometimes found accidentally during magnetic resonance imaging .

Symptoms

Cavernomas can become noticeable through epileptic seizures or neurological deficits ( paralysis , sensory disorders , etc.). The most important complication is the cerebral haemorrhage . There is no reliable data on the probability of bleeding. Depending on the size of the finding, the estimates are between 0.5% and 10% per year.

pathology

Histology of a cavernoma. Numerous pathological blood vessels with fibrous thinned walls can be seen. EVG coloring.

Histologically , cavernomas consist of medium to large-lumen pathological blood vessels, the thin walls of which often appear eccentrically fibrosed . In contrast to arteriovenous malformations , neither arterial nor venous differentiation can be detected in cavernomas . In the vicinity there are often deposits of blood breakdown products ( hemosiderin ) as an indication of earlier bleeding. Despite this limitation, a cavernoma is an arteriovenous malformation and not a hemangioma .

genetics

Most cavernomas occur sporadically without a recognizable hereditary disease . A familial occurrence, the so-called cavernomatosis, is rare. Among other things, mutations in the genes CCM1 , CCM2 or CCM3 could be detected in those affected (who often have multiple cavernomas) .

treatment

Especially after bleeding or epileptic seizures that cannot be controlled otherwise, cavernomas are removed by surgery . The indication for surgery is rather reserved in the case of asymptomatic incidental findings.

In preclinical studies, of the more than 5,000 approved compounds, indirubin-3-monoxime, which is used in leukemia, prevented adhesions in human blood vessel cells. In addition, it has only minor side effects.

Web links

• MRI Library (accessed October 17, 2010)
• http://www.kavernom.de/ (Information from the Federal Association of Congenital Vascular Malformations eV)

literature

• Klaus Poeck, Werner Hacke: Neurology. 10th edition. Springer, Berlin 1998. ISBN 3-540-63028-7 .
• S1 guideline for cerebral vascular formations of the German Society for Neurology. In: AWMF online (as of 2012)

Individual evidence

1. ↑ ^{a b} Alphabetical directory for the ICD-10-WHO version 2019, volume 3. German Institute for Medical Documentation and Information (DIMDI), Cologne, 2019, p. 443.
2. ↑ Thomas Kretschmer, Thomas Schmidt: Cerebral aneurysms and vascular malformations . In: Thomas Kretschmer (Ed.): Chapter 24: Basics of the therapy of brain cavernomas . ISBN 978-3-662-50477-2 , pp. 418 .
3. ↑ Kretschmer, Thomas (Neurosurgeon) ,: Cerebral aneurysms and vascular malformations: Treatment principles and neurosurgical therapy in case studies . Berlin, ISBN 978-3-662-50477-2 .
4. ↑ P. Labauge et al .: Genetics of cavernous angiomas. In: The Lancet Neurology 6, 2007, pp. 237-244, PMID 17303530 .

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !