Abstract:Background: Angioedemas localized in the upper airway are potentially life threatening, and without proper treatment, they may lead to death by suffocation.Upper airway edemas (UAE) in bradykinin-mediated angioedemas can even be the first symptoms of the disease.
Methods: Our survey was performed with a retrospective long-term follow-up method from the medical history of 197 hereditary (C1-INH-HAE) and 20 acquired C1-inhibitor deficiency (C1-INH-AAE), 3 factor XII and 3 plasminogen gene mutation (FXII-HAE, PLG… Show more
“…1 ). The burden of all types of HAE with respect to epidemiology was reported in 39 articles [ 7 , 18 – 55 ], whereas the economic burden and humanistic burden of the disease were reported in 16 [ 51 , 52 , 56 – 68 ], and 23 articles, respectively [ 17 , 50 – 55 , 57 – 61 , 69 – 79 ]. Fig.…”
Background
This systematic study aims to assess the global epidemiologic, economic, and humanistic burden of illness associated with all types of hereditary angioedema.
Methods
A systematic search for articles reporting the epidemiologic, economic, and humanistic burden associated with patients with HAE was conducted using English and Chinese literature databases from the inception to May 23, 2022. The selected studies were assessed for their quality and risk of bias. The study was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses and registered with the International Prospective Register of Systematic Reviews (PROSPERO; CRD42022352377).
Results
In total, 65 articles that met the search inclusion criteria reported 10,310 patients with HAE, of whom 5861 were female patients. Altogether, 4312 patients (81%) and 479 patients (9%) had type 1 and type 2 HAE, respectively, whereas 422 patients (8%) had HAE-normal C1-INH. The overall prevalence of all types of HAE was between 0.13 and 1.6 cases per 100,000. The mean or median delay from the first onset of a symptom of HAE to confirmed diagnosis ranged from 3.9 to 26 years. The estimated risk of death from asphyxiation was 8.6% for patients with HAE. Hospitalization, medication, unnecessary surgeries, doctor visits, specialist services, and nursing costs are direct expenses that contribute to the growing economic burden. The indirect cost accounted mostly due to missing work ($3402/year) and loss of productivity ($5750/year). Furthermore, impairment of QoL as reported by patient-reported outcomes was observed. QoL measures identified depression, anxiety, and stress to be the most common symptoms for adult patients and children.
Conclusion
This study highlights the importance of early diagnosis and the need for improving awareness among health care professionals to reduce the burden of HAE on patients and society.
“…1 ). The burden of all types of HAE with respect to epidemiology was reported in 39 articles [ 7 , 18 – 55 ], whereas the economic burden and humanistic burden of the disease were reported in 16 [ 51 , 52 , 56 – 68 ], and 23 articles, respectively [ 17 , 50 – 55 , 57 – 61 , 69 – 79 ]. Fig.…”
Background
This systematic study aims to assess the global epidemiologic, economic, and humanistic burden of illness associated with all types of hereditary angioedema.
Methods
A systematic search for articles reporting the epidemiologic, economic, and humanistic burden associated with patients with HAE was conducted using English and Chinese literature databases from the inception to May 23, 2022. The selected studies were assessed for their quality and risk of bias. The study was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses and registered with the International Prospective Register of Systematic Reviews (PROSPERO; CRD42022352377).
Results
In total, 65 articles that met the search inclusion criteria reported 10,310 patients with HAE, of whom 5861 were female patients. Altogether, 4312 patients (81%) and 479 patients (9%) had type 1 and type 2 HAE, respectively, whereas 422 patients (8%) had HAE-normal C1-INH. The overall prevalence of all types of HAE was between 0.13 and 1.6 cases per 100,000. The mean or median delay from the first onset of a symptom of HAE to confirmed diagnosis ranged from 3.9 to 26 years. The estimated risk of death from asphyxiation was 8.6% for patients with HAE. Hospitalization, medication, unnecessary surgeries, doctor visits, specialist services, and nursing costs are direct expenses that contribute to the growing economic burden. The indirect cost accounted mostly due to missing work ($3402/year) and loss of productivity ($5750/year). Furthermore, impairment of QoL as reported by patient-reported outcomes was observed. QoL measures identified depression, anxiety, and stress to be the most common symptoms for adult patients and children.
Conclusion
This study highlights the importance of early diagnosis and the need for improving awareness among health care professionals to reduce the burden of HAE on patients and society.
“…A recent study from Germany reported misdiagnosis in more than 50% of patients, the most frequent being appendicitis and allergy, and a median diagnostic delay of 15 years. 11 Laryngeal attacks, although infrequent, are experienced by around half of all patients with HAE, 12 and represent a mortality risk in undiagnosed/untreated patients, 13 , 14 highlighting the importance of a timely diagnosis.…”
BackgroundThe coronavirus disease pandemic and its containing measures have caused concerns for patients with hereditary angioedema (HAE) and their treating physicians. Both faced challenges surrounding interaction, and communication had to adapt to facilitate appropriate management. Specifically, the pandemic resulted in reduced in‐person contact in clinics. Where possible, telemedicine appointments were offered and treatment outside the hospital setting was encouraged.BodyThe pandemic markedly affected patient‐physician communication, which is essential to maintain partnerships and optimize care. Although patients with HAE are often experts in their condition, guidance by their physicians is essential, especially with the recent shift toward patient‐centered management for rare diseases and shared decision‐making (SDM). SDM enables patients to take control of their disease and allows the risks and benefits of treatment to be discussed with their physicians. This review explores perspectives from patients and physicians in the HAE clinical setting, particularly regarding their experiences with communication throughout the pandemic. We discuss the importance of SDM in rare diseases such as HAE, factors that impact effective communication, and potential solutions.ConclusionSince patient‐centered care and SDM have particular relevance in rare diseases in general, we believe our findings could be transferrable and applicable in the management of other rare diseases.
“…Several studies have shown that patients with HAE experience asphyxiation due to laryngeal edema during the undiagnosed period [7][8][9]. For the clinical management of HAE, early diagnosis and prompt treatment during acute attacks are important to decrease mortality and morbidity [10].…”
Hereditary angioedema (HAE), caused by C1-inhibitor (C1-INH) deficiency or dysfunction, is a rare and potentially life-threatening disease that leads to unpredictable recurrent attacks of angioedema in localized regions, including the larynx. As medical or dental procedures can trigger laryngeal edema, resulting in asphyxiation, major global guidelines recommend short-term prophylaxis prior to invasive procedures and long-term prophylaxis to prevent acute attacks and achieve near-normal lives. Here, we report the case of a 63-year-old male who experienced asphyxiation after tooth extraction. Emergency tracheotomy had saved his life at the age of 40 years, before the diagnosis of HAE. At the age of 63, when he had another opportunity for tooth extraction, he was definitively diagnosed with HAE. Administering short-term prophylaxis with ongoing long-term prophylaxis for HAE and perioperative multidisciplinary management for tooth extraction helped prevent recurrent fatal angioedema due to dental procedures and this can be useful when managing patients with HAE.
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