A Germany-wide survey study on the patient journey of patients with hereditary angioedema

Abstract

Background: Hereditary angioedema (HAE) is a rare genetic disease and characterized by clinical features such as paroxysmal, recurrent angioedema of the skin, the gastrointestinal tract, and the upper airways. Swelling of the skin occurs primarily in the face, extremities and genitals. Gastrointestinal attacks are accompanied by painful abdominal cramps, vomiting and diarrhea. Due to the low prevalence and the fact that HAE patients often present with rather unspecific symptoms such as abdominal cramps, the final diagnosis is often made after a long delay. The aim of this German-wide survey was to characterize the period between occurrence of first symptoms and final diagnosis regarding self-perceived health, symptom burden and false diagnoses for patients with HAE. Results: Overall, 81 patients with HAE were included and participated in the telephone-based survey. Of those, the majority reported their current health status as "good" (47.5%) or "very good" (13.8%), which was observed to be a clear improvement compared to the year before final diagnosis ("good" (16.3%), "very good" (11.3%)). Edema in the extremities (85.2%) and in the gastrointestinal tract (81.5%) were the most currently reported symptoms and occurred earlier than other reported symptoms (mean age at onset 18.1 and 17.8 years, respectively). Misdiagnoses were observed in 50.6% of participating HAE patients with appendicitis and allergy being the most frequently reported misdiagnoses (40.0 and 30.0% of those with misdiagnosis, respectively). Patients with misdiagnosis often received mistreatment (80.0%) with pharmaceuticals and surgical interventions as the most frequently carried out mistreatments (65.6 and 56.3% of those with mistreatment, respectively). The mean observed diagnostic delay was 18.1 years (median 15.0 years). The diagnostic delay was higher in older patients and index patients. Conclusions: This study showed that self-perceived status of health for patients is much better once the final correct diagnosis has been made and specific treatment was available. Further challenge in the future will still be to increase awareness for HAE especially in settings which are normally approached by patients at occurrence of first symptoms to assure early referral to specialists and therefore increase the likelihood of receiving an early diagnosis.

Prophylactic Treatment in Hereditary Angioedema Is Associated with Reduced Anxiety in Patients in Leipzig, Germany

“…Data from the Icatibant Outcome survey show an average diagnostic delay of 23.9 years in the >65-year-old age-group compared to 4.8 years in the <65-year-old group [31]. Recent data from Germany show an average diagnostic delay of 18.1 years, which increases to 22.9 years in 60-79-year-old patients and to 38.5 years in the ≥80-year-old group [30].…”

“…Other study groups reported an average diagnostic delay of 8.5 years with up to 65% of patients receiving at least 1 misdiagnosis and 24% reporting dispensable medical interventions while averagely consulting 4.4 physicians until HAE was correctly diagnosed [27][28][29]. A study by Magerl et al [30] shows that up to 80% of misdiagnosed HAE patients also receive a pharmaceutical or interventional mistreatment. Comparable to our findings, other study groups have described a significantly longer diagnostic delay in elder patients [30,31].…”

“…A study by Magerl et al [30] shows that up to 80% of misdiagnosed HAE patients also receive a pharmaceutical or interventional mistreatment. Comparable to our findings, other study groups have described a significantly longer diagnostic delay in elder patients [30,31]. Data from the Icatibant Outcome survey show an average diagnostic delay of 23.9 years in the >65-year-old age-group compared to 4.8 years in the <65-year-old group [31].…”

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study

“…Thus, while medical students chose almost all the indicated specializations from the list more often than their already professionally active colleagues, the physicians interviewed in this study indicated the option ‘other specializations’ more frequently than the students did. This difference is especially surprising when we consider the significant contribution of family physicians in the diagnosis of RDs [ 42 , 50 ]. Thus, while we may wonder whether these differences result from physicians’ post-graduation experiences, there is no doubt that such a difference does exist.…”

Angioedema Without Wheals: Challenges in Laboratorial Diagnosis

“…Allergic angioedema and appendicitis are the most frequent causes related to subcutaneous and submucosal edema, respectively ( 56 ). The delay on diagnosis is still a burden for HAE patients ( 57 , 58 ). These findings suggest that additional investment must be done to improve the awareness of HAE.…”