Vasculitis—misconceptions and delays during the diagnostic path and their implications for patients
As physical symptoms of vasculitis can be non-specific, they may not always be immediately investigated further, which may lead to delayed diagnosis. The experiences of Daniel Maraver de Lemus from Spain and Eugenia Durante from Italy, two young people with vasculitis, illustrate the misconceptions that can delay diagnosis and the implications of such delays for patients
Daniel Maraver de Lemus (Spain) and his lengthy diagnostic journey
Daniel’s diagnosis with eosinophilic granulomatosis with polyangiitis (EGPA) came dangerously late for him. He had been showing symptoms for some time before he was rushed to intensive care in a local hospital where he was put into an induced coma. He woke up several days later in a different city, and it was only then that he received his diagnosis.
Daniel feels that a contributory factor in his late diagnosis was his age. At just 32 at the time of diagnosis, he was unusually early to have the condition, as vasculitis usually manifests in later decades. However, Daniel had been to the hospital many times, some of which were particularly concerning: “To give you one example, I was working in the field one day with a colleague of mine taking biomass samples from agricultural residues.
I didn’t know at the time, but my heart was not working properly. So, the physical work I was carrying out caused me headaches that were so terrible I couldn’t move.” Before that, Daniel had also experienced asthma, sinusitis and polyps, classic symptoms associated with that type of vasculitis, along with lots of other minor health problems.
“Doctors were not able to understand what was wrong with me based on my various symptoms. Only when I had multiple organ failure did doctors from different medical disciplines (rheumatology, immunology, cardiology etc.) get together and come up with a joint diagnosis. Then they were able to find proof of EGPA thanks to a heart biopsy.”
At the time of his emergency admission to hospital, doctors suspected the cause was perhaps a parasitical infection picked up during a recent tourist trip to Egypt or even during a less recent work trip to the Venezuelan jungle, since Daniel’s asthmatic symptoms and nasal polyps only began after the latter.
Daniel considers his diagnostic delay to be a case of bad luck as much as anything. He feels that the timing of his overseas trips clouded the issue for doctors and that he didn’t take the symptoms seriously enough himself. For example, he attributed his tiredness when playing football to increasing age. “Maybe I wasn’t giving enough importance to the little things I was seeing. Maybe I wasn’t able to explain what was wrong with me properly, or maybe even I talked too much, misleading the doctors with my explanations.” The unfortunate fact remains though that a simple check using a pulse oximeter during one of his many trips to hospital would have indicated an extremely low level of oxygen in his blood.
Although Daniel is keen not to level blame at the doctors he consulted, he concedes that “they did not join the dots”, and he believes that primary health care doctors are not sufficiently prepared to detect rare diseases such as EGPA.
Daniel’s delayed diagnosis obviously had serious consequences for his health and for his life in general. Fortunately, he had just completed his PhD before his ill health became critical, but in the circumstances his employer chose not to renew his contract despite his several years of experience. Inspiringly, Daniel rose to this challenge by finding a post with the European Commission in Brussels, where he counts himself lucky to have found an excellent Spanish doctor who has links with the hospital where he was diagnosed. She has done everything possible to help him access effective treatment.
Eugenia Durante (Italy), vice president of APACS (Associazione dei Pazienti della Sindrome di Churg Strauss), and her ten-year diagnostic journey
The estimated mean annual incidence of EGPA is 0.5–2.3 cases per 1 million person-years,1 and in most cases, disease-onset is when patients are in middle age. However, Eugenia’s symptoms started when she was just eight years of age, making her even more of a rarity: “Doctors didn’t expect me to have that kind of illness. So, it took them almost 10 years to understand what was wrong with me.”
Eugenia’s symptoms had started with dry cough, asthma and nasal obstruction, but she was then hospitalised with pneumonia at 14. Unable to breathe, she was put into a coma. Afterwards Eugenia was diagnosed with severe asthma and prescribed steroids: “I think they underestimated some red flags because at first it looked like severe asthma. I had a very high eosinophilic count and that could have been a red flag, but I was told that maybe I was allergic to something and that maybe it would just get better as I grew up.”
Despite her treatment with steroids, Eugenia’s symptoms worsened over the next two years, with itching, swelling and purpura. Finally, her doctors started to consider the possibility of her having EGPA, but they were still reticent to diagnose the condition because of her young age.
The breakthrough came finally when Eugenia was referred to a rheumatologist, “a very kind man with a girl my age. He was very involved in my case; he did his research and talked with other doctors.”
“He told me he thought I had EGPA, but didn’t know for sure, because he’d never dealt with patients with the condition. So, he referred me to another centre where they were able to do all the examinations and tests. I was very lucky: my diagnosis at 18 was thanks to his efforts and his kindness, together with my parents’ stubbornness.”
The difference made by a diagnosis
Eugenia suffered with symptoms through her childhood but she describes herself as “very competitive” and thinks this is why she was “always hospitalised in summer—my body seemed to adjust to the situation so that I could mostly attend school, even though I experienced recurring bronchitis, asthenia and ophthalmic migraine.”
“It was hard emotionally being a teenager with EGPA, because all my friends could do stuff I couldn’t. But teenagers are very flexible—they adjust with the flow, and they would come to the hospital and play with me. This made me want to get better and do stuff with them properly”
Fortunately, the impact of EGPA on Eugenia’s education was lessened as her parents were both high school teachers: “They didn’t force me at all and they understood the impact of my symptoms on my life. And my teachers were very kind too. So they let me adjust and take my time, without making me feel too special or different.”
Eugenia recognises her good fortune in the way that her “great network” of friends, family and teachers helped her to live with her condition but wishes effective therapy had begun sooner; it wasn’t till she was almost 19 that therapy started to resolve her symptoms. “When I got it, everything came right. And so I was able to have a normal—or almost normal—time at university, which was great.”
Along with Eugenia’s years of struggle and uncertainty with debilitating symptoms but no diagnosis, there was the pain of seeing the burden on her parents: “I think seeing the burden on my parents was the hardest part of it all. I felt responsible for causing their pain and stress—not in the normal way that teenagers do, not because of bad grades or things like that but because of my symptoms. They would have done anything to make me feel better, and I will always be grateful for that. But I have always been very sensitive, so I kind of became an adult too soon.”
As a young person with EGPA, Eugenia also worried about her future: she had many questions but no answers. “One of the main concerns was what happens now? how do people like me live? can I go to university? can I have a boyfriend? can I go on trips?”
Eugenia is now vice president of APACS (Associazione dei Pazienti della Sindrome di Churg Strauss). Her membership of this patient organisation has helped her to feel less alone.
References
[1] Kitching RA et al. Nat Rev Dis Primers. 2020 Aug 27;6(1):71.
Disclaimer
The views and opinions expressed in this article are entirely those of the contributors and do not necessarily reflect the views and positions of Vifor Pharma.
UK-NA-2200078 / date of preparation : May 2022
