Unnecessary abdominal interventions in patients with hereditary angioedema

Hahn, Janina; Hoess, Alisa; Friedrich, Daniel; Mayer, Benjamin; Schauf, Lucia; Hoffmann, Thomas; Greve, Jens

doi:10.1111/ddg.13698

Cited by 20 publications

(25 citation statements)

References 29 publications

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“…In many orphan diseases the time between first occurrence of symptoms and reliable diagnosis (diagnostic delay) amounts to years. Within this diagnostic delay, symptoms are often attributed to more common diseases which leads to incorrect diagnosis and potentially mistreatment [2,3]. Studies show that diagnostic delay is associated with anxiety, frustration and stress [4].…”

Section: Introductionmentioning

confidence: 99%

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

Magerl

Gothe

Krupka

et al. 2020

Orphanet J Rare Dis

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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.

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Section: Introductionmentioning

confidence: 99%

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

Magerl

Gothe

Krupka

et al. 2020

Orphanet J Rare Dis

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“…Several relevant factors, such as a history of severe HAE attacks, HAE-related deaths within the family, unpredictability of attacks, impairment of family planning decisions, delay of correct diagnosis, unnecessary medical interventions due to misdiagnosis and disease-related restrictions of daily activities or work productivity are contributing to the huge burden of the disease in HAE patients [3,10,[14][15][16][17][18][19][20]. We aimed at analyzing diseaserelated burden in adult patients with HAE in Leipzig, Germany.…”

Section: Introductionmentioning

confidence: 99%

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

Zarnowski

Rabe

Kage

et al. 2021

Int Arch Allergy Immunol

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Background: Hereditary angioedema (HAE) is associated with relevant disease-related burden. We aimed at investigating prevalence of depression and anxiety in patients with HAE in Leipzig, Germany. Methods: Questionnaire-based evaluation of medical history, Angioedema Control Test (AECT), Angioedema Quality of Life Questionnaire (AE-QoL), Generalized Anxiety Disorder Scale-7 (GAD-7), and Hospital Anxiety and Depression Scale (HADS). Results: Thirty-seven patients with HAE were included (31 females, mean age 49.6 ± 17.5 years). A mean diagnostic delay between first symptoms and correct diagnosis of 14.2 ± 14.5 years was detected. Patients aged <50 years (n = 18) had been diagnosed significantly earlier with HAE than older patients (p = <0.001). In 6 patients (16.2%), unnecessary medical interventions were performed and 14 patients (43.8%) reported at least 1 HAE-related death of a family member. Psychological stress was the most common triggering factor (96.2%). HADS scores revealed depression in 5/37 patients (13.5%) and anxiety in 16/37 (43.2%), GAD-7 score indicated anxiety in 9/36 (25%) participants. Patients receiving long-term prophylactic treatment (n = 17, 45.9%) showed significantly better disease control (AECT; p = <0.001) and quality of life (AE-QoL; p = <0.001) compared to those with on-demand treatment only. Patients with long-term prophylactic treatment showed significantly lower scores for anxiety and depression at GAD-7 (p = 0.011) and HADS (anxiety: p = 0.021; depression: p = 0.008). In 5 patients, treatment regime was changed as AECT score indicated insufficient disease control. Subsequently, we measured significant improvement of quality of life (AE-QoL, p = 0.04) and disease control (AECT; p = 0.032). Conclusion: Anxiety was a frequent burden in our study group and showed a significant association with low disease control. Our data indicate that prophylactic HAE treatment can improve psychosocial burden of HAE.

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“…Consequences of delayed diagnosis, whether due to patients not seeking care or providers missing the diagnosis, may result in patients undergoing unnecessary medical procedures and spending years suffering without appropriate or effective treatment. Further, in the case of laryngeal involvement, consequences can be fatal [1,59,60]. Young children may be at particular risk due to the smaller diameter of their airways [58].…”

Section: Diagnosis Of Haementioning

confidence: 99%

The importance of recognizing and managing a rare form of angioedema: hereditary angioedema due to C1-inhibitor deficiency

Jacobs

Neeno

2021

Postgraduate Medicine

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The majority of angioedema cases encountered in clinical practice are histamine-mediated (allergic); however, some cases are bradykinin-related (non-allergic) and do not respond to standard anti-allergy medications. Among bradykinin-related angioedema, hereditary angioedema (HAE) is a rare, but chronic and debilitating condition. The majority of HAE is caused by deficiency (type 1) or abnormal function (type 2) of the naturally occurring protein, C1-inhibitor (C1-INH)-a major inhibitor of proteases in the contact (kallikrein-bradykinin cascade), fibrinolytic pathway, and complement systems. Failure to recognize HAE and initiate appropriate intervention can lead to years of pain, disability, impaired quality of life (QoL) and, in cases of laryngeal involvement, it can be life-threatening. HAE must be considered in the differential diagnosis of non-urticarial angioedema, particularly for patients with a history of recurrent angioedema attacks, family history of HAE, symptom onset in childhood/adolescence, prodromal signs/symptoms before swellings, recurrent/painful abdominal symptoms, and upper airway edema. Management strategies for HAE include on-demand treatment for acute attacks, shortterm prophylaxis prior to attack-triggering events/procedures, and long-term or routine prophylaxis for attack prevention. Patients should be evaluated at least annually to assess need for routine prophylaxis. HAE specific medications like plasma-derived and recombinant C1-INH products, kallikrein inhibitors, and bradykinin B2 receptor antagonists, have improved management of HAE. While the introduction of intravenous C1-INH represented a major breakthrough in routine HAE prophylaxis, some patients fail to achieve adequate control and others have psychological barriers or experience complications related to intravenous administration. Subcutaneous (SC) C1-INH, SC monoclonal antibody (mAb)-based therapies, and an oral kallikrein inhibitor offer effective alternatives for HAE attack prevention and may facilitate self-administration. HAE management should be individualized, with QoL improvement being a key goal. This can be achieved with broader availability of existing options for routine prophylaxis, including greater global availability of C1-INH(SC), mAb-based therapy, oral treatments, and multiple on-demand therapies.

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Unnecessary abdominal interventions in patients with hereditary angioedema

Cited by 20 publications

References 29 publications

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

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

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

The importance of recognizing and managing a rare form of angioedema: hereditary angioedema due to C1-inhibitor deficiency

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