FARE grant recipient aims to develop FPIES diagnostic and predictive tests

Research will aim to identify biomarkers that could strengthen and facilitate diagnostic pathways for FPIES.

Key takeaways:

• The FPIES diagnostic test would facilitate quick diagnosis when patients visit the ED.
• Predictive tests would reduce the need for patients to undergo oral food challenges.

The nonprofit Food Allergy Research & Education announced the recipients of $1 million in grant funding for new research projects focused on food protein-induced enterocolitis syndrome, or FPIES.

Marta Vazquez-Ortiz, MD, MSc, PhD, a consultant in pediatric allergy at the Imperial College NHS Healthcare Trust as well as the director of the master’s in science in allergy at Imperial College London, will use the grant funding to lead research that could produce a diagnostic test as well as a predictive test for FPIES.

“This research is mainly prompted by the fact that misdiagnosis or delay in diagnosis is very common in FPIES, and most children and adults with FPIES experience multiple reactions to the culprit food before someone thinks this could be a food allergy,” Vazquez-Ortiz told Healio.

“There is no lab test to diagnose FPIES,” she continued. “It is a clinical diagnosis, basically by recognizing the typical symptoms after ingestion of a ‘suspicious’ food, often in an infant. However, a range of conditions can present in a similar way, such as acute gastroenteritis, sepsis, food poisoning, abdominal surgical causes such as intussusception, or even epilepsy.

Vazquez-Ortiz further explained that FPIES does not present like a typical food allergy since it mainly has gut and neurological symptoms rather than symptoms that people usually associate with a food allergy such as skin or respiratory symptoms. She emphasized that awareness of FPIES amongst non-specialists is very limited, so people do not easily think of FPIES. “Also, the classical allergy tests (based on IgE testing) are generally negative in FPIES. So, professionals often believe allergy is ruled out in that context, which is not the case,” she said.

FPIES reactions can be severe as well, which puts patients at risk, she said.

Especially in young infants, particularly severe reactions can be traumatic experiences for parents and drive significant anxiety that can impact a family’s quality of life and further lead to feeding difficulties and nutritional issues in children, when these diets need to be expanded,” Vasquez-Ortiz said.

Vasquez-Ortiz and her collaborators at Imperial College London are pioneering technology for accurately diagnosing infection-like illness in children when they first present to the ED, she said, adding that she and her team are applying this technology to FPIES diagnostics.

Vazquez-Ortiz also said that her research will attempt to identify biomarkers that can help distinguish acute FPIES from other diseases with similar presentations such as acute gastroenteritis or sepsis when children visit the ED with reactions.

“A point-of-care test that would allow [providers] to identify FPIES acutely against common differentials. would facilitate prompt diagnosis,” she said.

Providers could then prevent further reactions and enable patients to access the care, advice and support they need early in their illness, Vazques-Ortiz said.

While FPIES usually resolves on its own over time, there is currently no predictive test available to see if a patient is able to tolerate a specific food without going through an oral food challenge.

“Often this is not available, and patients are left to try on their own,” Vazquez-Ortiz said. “This of course has the risk of leading to a new reaction, so it is an unsettling experience for families.”

“Being able to identify if FPIES has resolved, and generally which foods are safe, without the need to actually try the food would be a major advancement in the support we can provide to families living with this condition,” she said.

Vazquez-Ortiz and her colleagues will analyze transcriptomics and proteomics in blood samples collected before and during FPIES reactions in their large European cohort of patients, who mainly are children, going through food challenges in their BIO-FPIES research network centers, she said..

“Data scientists, working closely with clinicians and basic science colleagues, will have a key role in this project,” Vazquez-Ortiz said. “I feel privileged to work in such a rich environment.”

Understanding what happens during reactions can help researchers identify potential targets for treatment or prevention as well, she said.

“This can open new avenues for research — for instance, to minimize the impact of FPIES reactions or to prevent the disease in the first place,” she said.

In addition to developing these tests, Vazquez-Ortiz’s work has focused on improving FPIES awareness among health care professionals to prevent misdiagnosis and to understand the challenges and unmet needs of patients and families living with the disease.

“Lack of awareness amongst professionals and diagnostic and predictive tests are the key unmet needs flagged by the FPIES community. Our research is trying to address the important unmet needs,” she said.

The availability of diagnostic and predictive tests could significantly improve the care of those suffering with FPIES as well as raise awareness among health care professionals about its diagnosis and treatment.