Brain aneurysms are a silent condition and can have a devastating impact on people’s lives. Currently, research suggests that if a person has a strong family history of brain aneurysms, they are potentially up to three times more likely to have the condition themselves. 

However, until now, trying to understand the condition took hours of research. People affected by hereditary brain aneurysms often found themselves trying to piece together information from multiple sources, which was difficult to find, understand and navigate. What’s more, people’s experience of living with familial risk has played a limited role in research and has been often hard to find. 

Launching today, our Targeted Literature Review (TLR) aims to put that right.

Commissioned by HBA Support and carried out on a pro bono basis by Costello Medical, an expert healthcare consultancy, the new report compiles literature on the rare disease in one, accessible, resource. The in-depth TLR looks at the reported pattern and distribution of familial intracranial aneurysms (FIAs), the genetic causes of FIAs and the current UK and global guidelines for its diagnosis, management and treatment.

Through conducting the TLR, existing gaps in knowledge were uncovered, signposting the medical community towards three key areas where more research is needed:

  • Prevalence and Incidence: Studies have shown that people with a family history of brain aneurysms are more likely to have an aneurysm themselves. However, no studies have reported the prevalence and incidence of familial intracranial aneurysms (hereditary brain aneurysms) within the general population. This would give a valuable insight into the predicted number of total individuals affected by the condition and support the finalisation and updating of screening recommendations
  • Genomics: Multiple genetic candidates have been associated with hereditary brain aneurysms. However, the discrepancies between some studies and the limited understanding of how genetic variants lead to brain aneurysm development means there is not a ‘confirmed’ list of genetic candidates that cause hereditary brain aneurysms. Further research into this area may help consolidate the list of genetic candidates and allow for genetic screening techniques to be developed.
  • National and International Guidelines: There are few national and international guidelines available covering the management and treatment of hereditary brain aneurysms. This indicates that the current clinical approach may be variable. Where guidance is specific to hereditary brain aneurysms, it is mostly focused on the screening of high-risk individuals. Tailored treatment guidelines would be valuable in the UK and globally. In the UK there are draft NICE guidelines but these are not yet published for clinicians to use.

We know that more research, together with collaboration between clinicians and those affected by hereditary brain aneurysms, will improve the support available to those affected and their families.

Eventually, with increased knowledge, better genetic testing and targeted screening within high-risk families could be offered, saving lives and minimising the stress and worry which a diagnosis can cause.