Clinical features and burden of genital attacks in hereditary angioedema

Mormile, Ilaria; Bova, María; Cocchiaro, Antonio; Rossi, Francesca Wanda; Granata, Francescopaolo; Spadaro, Giuseppe; Paulis, Amato de; Petraroli, Angelica

doi:10.1016/j.jaip.2021.09.046

Cited by 6 publications

(5 citation statements)

References 8 publications

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“…A link between estrogen and pathways associated with HAE is well established 32–35 . Estrogen is associated with increased Factor XII, kallikrein, and kinin concentrations and has a role in the regulation of B2 receptor gene expression and function 34,36,37 . The result of these alterations is C1‐INH consumption, 38,39 and as such, decreased plasma levels of C1‐INH in healthy women taking oral contraceptives have been observed 37 .…”

Section: Hae and Pediatricsmentioning

confidence: 99%

“…32 , 33 , 34 , 35 Estrogen is associated with increased Factor XII, kallikrein, and kinin concentrations and has a role in the regulation of B2 receptor gene expression and function. 34 , 36 , 37 The result of these alterations is C1‐INH consumption, 38 , 39 and as such, decreased plasma levels of C1‐INH in healthy women taking oral contraceptives have been observed. 37 Accordingly, estrogen exposure is associated with worsening of the frequency and severity of HAE symptoms.…”

Section: Hae and Pediatricsmentioning

confidence: 99%

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Could it be hereditary angioedema?—Perspectives from different medical specialties

Magerl,

Sala‐Cunill,

Weber‐Chrysochoou

et al. 2023

Clinical & Translational All

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Hereditary angioedema (HAE) is a rare autosomal dominant disease, with patients often suffering with associated symptoms for many years before receiving a correct diagnosis. The symptoms greatly impact a patient's quality of life (QoL) and include excruciating abdominal pain and angioedema of the skin and submucosa. Angioedema of the larynx represents a significant mortality risk in undiagnosed patients, and a large proportion of patients with HAE receive incorrect diagnoses and undergo unnecessary surgery. HAE‐specific treatments can control and prevent acute life‐threatening episodes, in addition to improving QoL, emphasizing the value of early diagnosis for patients. Diagnostic delay may be due to a lack of HAE awareness by healthcare professionals and the similarity of HAE symptoms with those of more common conditions, complicating differential diagnosis. The multifaceted nature of the condition may result in visits to one of many different medical settings, for example: the Emergency Room, pediatrics, general practice, otolaryngology, gastroenterology, and dermatology. Therefore, it is crucial that physicians in multiple healthcare specialties are aware of the disease to ensure that patients with HAE receive a timely diagnosis. Using patient cases from various medical specialties, this review highlights the necessity for cross‐specialty awareness of HAE and outlines the essential information for the various healthcare professionals that may encounter a patient with HAE symptoms, in order to effectively treat and/or diagnose HAE.

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Section: Hae and Pediatricsmentioning

confidence: 99%

Section: Hae and Pediatricsmentioning

confidence: 99%

Could it be hereditary angioedema?—Perspectives from different medical specialties

Magerl,

Sala‐Cunill,

Weber‐Chrysochoou

et al. 2023

Clinical & Translational All

Self Cite

View full text Add to dashboard Cite

show abstract

“…For example, it is important to consider that the mean diagnostic delay in HAE patients is 6.2-8 years [68,86,87]. Moreover, according to different cohorts, between 3% and 36% of patients are asymptomatic despite laboratory results indicative of HAE [4,88]. For these reasons, it could be assumed that these drugs sometimes unmasked an undiagnosed underlying condition rather than primarily inducing a de novo onset of angioedema.…”

Section: Unmet Needs In Clinical Practice and Conclusionmentioning

confidence: 99%

“…Angioedema without wheals (AE) is caused by an increased vascular permeability due to the release of vasoactive mediators such as bradykinin [1]. This rare disease is clinically characterized by swelling of cutaneous and subcutaneous tissue involving several anatomical districts such as skin, gastrointestinal tract [2], respiratory airways [3], and urinary and genital tracts [4]. Bradykinin-mediated angioedema is classified into hereditary (HAE) and acquired forms (AAE) [1,5,6].…”

Section: Introductionmentioning

confidence: 99%

Neurologic and Psychiatric Manifestations of Bradykinin-Mediated Angioedema: Old and New Challenges

Mormile

Palestra

Petraroli

et al. 2023

IJMS

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Neurologic manifestations have been occasionally described in patients with bradykinin-mediated angioedema. The existing literature is currently limited to case series and case reports mainly described in the hereditary forms (HAE) concerning central nervous system (CNS) involvement. On the contrary, very little is known about peripheral and autonomic nervous system manifestations. CNS involvement in HAE may present with symptoms including severe headaches, visual disturbance, seizures, and various focal and generalized deficits. In addition, a stroke-like clinical picture may present in HAE patients. In turn, some drugs used in patients with cardiovascular and neurologic disorders, such as recombinant tissue plasminogen activator (r-tPA) and angiotensin-converting enzyme inhibitors (ACEI), may produce medication-induced angioedema, resulting in a diagnostic challenge. Finally, most patients with HAE have higher levels of psychological distress, anxiety, and depression. With this review, we aimed to provide an organized and detailed analysis of the existing literature on neurologic and psychiatric manifestations of HAE to shed light on these potentially invalidating symptoms and lay the foundation for further personalized diagnostic pathways for patients affected by this protean disease.

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“…Other HAE subtypes with normal C1-INH level (HAEnCI) have been identified, produced by mutations in other genes (i.e., factor 12 (FXII-HAE), plasminogen (PLG-HAE), angiopoietin-1 (ANGPT1-HAE), kininogen-1 (KNG1-HAE), myoferlin (HAE-Myoferlin), and HS3ST6 gene encoding for heparan sulfate glucosamine 3-O-sulfotransferase 6 (3-OST-6)) [ 6 , 7 , 8 ]. HAE patients show a broad clinical expression since the attacks may involve several anatomical districts, ranging from the skin to the gastrointestinal tract [ 9 , 10 ] and respiratory airways [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Immunogenicity and Safety of Anti-SARS-CoV-2 mRNA Vaccines in a Cohort of Patients with Hereditary Angioedema

et al. 2023

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Many factors may trigger hereditary angioedema (HAE) attacks. This study aims to gain insights into the benefits and potential risks of COVID-19 vaccination in HAE patients, focusing particularly on the possibility of triggering attacks. We enrolled 31 patients with HAE undergoing two doses of the SARS-CoV-2 mRNA Comirnaty-BioNTech/Pfizer vaccine. To evaluate the possible influence of the vaccine on disease control and attack frequency, we administered the angioedema control test (AECT) 4-week version before (T0), 21 days after the first dose (T1), and between 21 and 28 days after the second dose (T2). Despite 5 patients (16.1%) experiencing attacks within 72 h of the first dose administration, no significant variation in attack frequency was observed before and after vaccination [F(2,60) = 0.123; p = 0.799]. In addition, patients reported higher AECT scores at T1 and T2 compared to T0 [F(2,44) = 6.541; p < 0.05; post hoc p < 0.05)], indicating that the disease was rather more controlled after vaccinations than in the previous period. All patients showed a positive serological response to the vaccine without significant differences from healthy controls (U = 162; p = 0.062). These observations suggest that the vaccine administration is safe and effective in HAE patients.

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Clinical features and burden of genital attacks in hereditary angioedema

Cited by 6 publications

References 8 publications

Could it be hereditary angioedema?—Perspectives from different medical specialties

Could it be hereditary angioedema?—Perspectives from different medical specialties

Neurologic and Psychiatric Manifestations of Bradykinin-Mediated Angioedema: Old and New Challenges

Immunogenicity and Safety of Anti-SARS-CoV-2 mRNA Vaccines in a Cohort of Patients with Hereditary Angioedema

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