Professor Richard Steeds, from the Institute of Cardiovascular Sciences at the University of Birmingham, is working with colleagues from University Hospitals Birmingham NHS Foundation Trust and Amicus Therapeutics to explore ways to improve diagnosis of Fabry disease, a rare and inherited condition where complications affect the heart muscle, that can lead to premature death.
Through the project, the team have begun to build advisory groups in collaboration with community leaders, healthcare professionals and patients from black, South Asian and other minority ethnic groups. These advisory groups will support researchers to understand patient perspectives on possible barriers to diagnosis, as well as possible approaches to breaking down these barriers. Once further funding is secured, these approaches will be trialled locally in Birmingham, a super-diverse city.
The incidence rate of Fabry disease in the general population is reportedly around 1 in 100,000, although this is likely an underestimate of its true prevalence. Although Fabry disease is very rare, as a genetic condition, patient’s family members have a higher likelihood of the disease that the wider population. Therefore, family screening and mapping is an important tool to identify more cases.
Identifying Fabry disease is important, since the earlier that a patient is diagnosed the better the prognosis for treatment. There are several therapies available, including enzyme replacement and methods to make the faulty enzyme that causes Fabry disease work better, all of which are more effective if started earlier. Without treatment, patients may develop significant cardiac, renal and cerebrovascular complications.
