Symptoms

What symptoms can a Cavernoma cause?

Symptoms depend on where the Cavernoma is and whether it has leaked blood. Some people never have symptoms. Others may notice:

Seizures (fits)

Often the first sign

Headaches

Sometimes more severe or different to usual

Weakness or numbness in the face, arms, or legs

Problems with speech or memory

Blurred or double vision

Difficulty walking or keeping balance

Trouble swallowing or changes in the voice

If the brainstem is affected

If you suddenly develop a severe headache, seizure, weakness, speech or vision problems, or other sudden changes, seek medical help immediately.

Genetic Cavernoma

The known familial genes that cause Cavernomas are KRIT1 (CCM1), MGC4607 – Malcalvernin (CCM2) and PDCD10 (CCM3) . Each of these genes are autosomal dominant with variable penetrance. They are involved in regulating the cell-to-cell connections, formation of cells and blood vessels.

Historically, Cavernomas were thought to be congenital. However, the latest evidence suggests that they could be acquired. The likelihood of developing a Cavernoma is dependent on multiple factors – whether it is sporadic or familial. It is postulated that even with underlying family history of Cavernoma there is likely a natural history of a “second hit” precipitating the formation of Cavernomas. “Second hit” is described as a phenomenon that sequential insults to cells may cause an overwhelming physiologic reaction causing the formation of the disease.

How long do symptoms last?

Sometimes symptoms improve as the brain or spinal cord recovers from a small bleed. Other times, symptoms may last longer, especially if there have been repeated bleeds. Treatments such as medication or surgery can help manage symptoms.

How are symptoms treated?

Seizures

About half of people with Cavernoma-related epilepsy have good control with anti-seizure medicines. If medicines don’t help, surgery may be considered.

Headaches

Can sometimes be linked to migraine, so a headache specialist may be helpful.

Pain or weakness

Certain medicines or physiotherapy may help.

More information

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