Research

Targeted Literature Review

Until now, trying to understand genetic markers for intracranial aneurysms and the genetic causes of hereditary brain aneurysms took hours of research and was simply inaccessible to many patients. People affected by hereditary brain aneurysms often found themselves trying to piece together information from multiple sources, which was difficult to 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.

This is why Hereditary Brain Aneurysm (HBA) Support has commissioned an extensive Targeted Literature Review (TLR), looking at hundreds of reports and sources to create an accessible and reliable single source of information on this brain disease.

Find out more about the TLR below.

Familial Intracranial Aneurysm Research TLR

What is a Targeted Literature Review (TLR)?

A targeted literature review is a survey or a focused assessment on a specific topic. It provides an overview of current knowledge, key evidence and data available allowing those who are analysing it to identify relevant trends, theories, methods, and gaps in the existing research.

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.

What areas did it look at?

The in-depth TLR looked at three key areas:

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.

The need for more research and collaboration

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. Eventually, we hope that a simple blood test could be an effective way of screening people.

This TLR is the first step in changing the landscape for support and information for families with this rare, hereditary condition. We hope the overview proves useful for the patient, research and clinical communities. Through this knowledge and collaboration, we hope to open doors for better dialogue, more research and greater support for the families impacted by this potentially devastating condition. 

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