Preventative and Acute Treatment for Rare Genetic Disease HAE with Salome Juethner Takeda

Salome Juethner, Senior Medical Director, Head of Rare Genetics, and Interim Head of Rare GI at Takeda, discusses HAE, hereditary angioedema, a rare genetic disorder that causes painful and unpredictable swelling attacks that can be life-threatening. Salome emphasizes the need to educate physicians to consider HAE as a potential diagnosis in children as young as two years old and underrepresented racial and ethnic groups. To treat HAE, Takeda offers Takhzyro, a medication that can be used on-demand and as a preventative therapy, administered at home through a subcutaneous injection. 

Salome explains, "Hereditary angioedema, or HAE, is a rare genetic disorder with a prevalence of one in 50,000. It can cause very painful, unpredictable swelling attacks that can occur in the throat, abdomen, hands, feet, and face. And as you can imagine, a throat attack could be potentially life-threatening. There are different triggers for these attacks. Some can just be stress and that could be positive stress like a wedding or going to prom or an illness and others. It can be quite limiting when you have to live thinking if I do something, is that going to trigger an attack? The symptoms can change over time, and HAE may not necessarily look the same for each person. Typically, people with HAE are missing an important protein in their blood called a C1 inhibitor. Either they're missing it or have very low levels, and it just may not work the way it should."

"For people who have never heard of HAE, things get a lot more difficult because they rely on their physician, who may or may not be aware of this very rare disease and consider it part of the differential diagnosis. So it is not uncommon to hear patients talk about going for years before they ever got their diagnosis and that they were experiencing symptoms during that time, going to the emergency room, and maybe even being misdiagnosed with another condition until they finally saw someone who thought, oh, you know what? We should screen you for HAE."

"Screening is really just a blood test. So, you would screen for a C4 level, which would be low or normal. If you're thinking about whether this could be HAE, then you would go ahead and check a C1 inhibitor level and a functional C1 level, and then those would be low as well. It's really about educating people, though, to consider it as part of the differential diagnosis." 

#Takeda #HAE #HereditaryAngioedema #RareDisease

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