As we approach HAE Day on May 16, we asked Dr. Konrad Bork about the arc of progress he’s witnessed and the challenges still facing those living with Hereditary Angioedema. Bork, with the Dermatology Department at the University Medical Center in Mainz, Germany , is an expert in HAE, a rare genetic condition that causes unpredictable swelling episodes.
Attacks may impact various parts of the body, including the face, larynx and abdomen. Having HAE burdens patients and their families due to its unpredictable, painful, and potentially life-threatening nature.
When you think back to the early years of your work with HAE, how would you describe the care situation at that time?
Bork: In the early days, caring for patients with HAE was extremely challenging. The disease was poorly understood, diagnosis was often delayed for many years, and effective treatment options were simply not available. What impressed me most was the resilience of patients and families who lived with constant uncertainty and fear, often without clear explanations or adequate support.
Which key moments or breakthroughs shaped the development of HAE diagnostics and therapy?
Bork: The identification of C1 esterase inhibitor deficiency as the cause of HAE was a defining moment. It transformed HAE from a clinical mystery into a disease with a clear biological mechanism. Another milestone was the introduction of C1‑INH therapy in 1979. For the first time, we could intervene causally and effectively—this fundamentally changed patient care.
In 2000, a novel type of HAE without wheals (hives) was identified. This type was not associated with a deficiency of C1-INH and was termed "HAE with normal C1-INH". Up to now, a number of HAE types with normal C1-INH and various underlying genetic defects have been reported.
Is there a particular patient experience that made you realize how far HAE care has come?
Bork: There are many, but what stands out most is seeing patients today who can plan their lives—education, careers, families – without constant fear of the next attack. When I compare that to patients decades ago, who structured their entire lives around unpredictability, it becomes very clear how transformative progress has been.
Where do you still see unmet needs – either medically or in patients’ everyday lives?
Bork: Even with effective therapies, challenges remain. Early diagnosis is still an issue, and not all patients have equal access to specialized care. Beyond medical treatment, psychological burden, uncertainty and social limitations can persist. Addressing these aspects requires more than medication alone.
Was there a moment when the voice of a patient or a family changed how you viewed therapy or patient care?
Bork: Yes, many times. Patients often reminded me that treatment success is not only measured in reduced attacks, but in regained confidence and independence. Hearing patients describe how therapy allowed them to live more openly and actively reinforced the importance of holistic care.
Beyond medical support, what other types of support are important for patients and families?
Bork: Education, trust and a strong community are crucial. Patient organizations, family support and informed health care professionals make a real difference. When patients feel understood and supported, they are better able to manage their disease and participate actively in their care.
Over several decades, what challenges or setbacks most strongly shaped the development of the HAE field?
Bork: Progress was not linear. There were periods of limited options and slow advances, and sometimes skepticism toward new approaches. Conducting robust clinical studies in a rare disease has always been demanding. These challenges, however, also strengthened collaboration and persistence within the community.
And on the other hand, which moments were most inspiring or meaningful for you personally?
Bork: Seeing patients benefit directly from new therapies has always been the greatest motivation. Every step that translated scientific progress into improved daily life for patients confirmed that the effort was worthwhile.
If you could share one message with young physicians today, what would it be?
Bork: Listen to your patients and remain curious. Progress in rare diseases comes from persistence, collaboration and empathy. What I have learned over decades with HAE is that meaningful change is possible when science and humanity go hand in hand.
How can initiatives like HAE Day help shape the future?
Bork: Awareness is fundamental. These initiatives help ensure that rare diseases are recognized, diagnosed earlier and taken seriously. They also give patients a voice and foster global exchange. For future generations of physicians and patients, this visibility is essential.
