Standard care impact on angioedema because of hereditary C1 inhibitor deficiency: a 21-month prospective study in a cohort of 103 patients

Zanichelli, Andrea; Vacchini, Romualdo; Badini, Matteo; Penna, Vincenzo; Cicardi, Marco

doi:10.1111/j.1398-9995.2010.02433.x

Cited by 83 publications

(77 citation statements)

References 19 publications

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“…In 15-30% of patients multiple anatomical unrelated localizations are involved (2,4). Zanichelli et al report 46%, 33% and 6.4% of the attacks to affect the extremities, the gastrointestinal tract and upper airways, respectively (5). In a Danish cohort 94.8% of the patients suffered from skin swelling, 59.7% from facial swelling and 96.1% from abdominal (mesenteric or intestinal) edemas, of which 16.9% resulted in abdominal complications (2).…”

Section: Clinical Picturementioning

confidence: 99%

Hereditary and acquired C1-inhibitor-dependent angioedema: from pathophysiology to treatment

Zeerleder

Levi

2016

Annals of Medicine

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Uncontrolled generation of bradykinin (BK) due to insufficient levels of protease inhibitors controlling contact phase (CP) activation, increased activity of CP proteins, and/or inadequate degradation of BK into inactive peptides increases vascular permeability via BK-receptor 2 (BKR2) and results in subcutaneous and submucosal edema formation. Hereditary and acquired angioedema due to C1-inhibitor deficiency (C1-INH-HAE and -AAE) are diseases characterized by serious and potentially fatal attacks of subcutaneous and submucosal edemas of upper airways, facial structures, abdomen, and extremities, due to inadequate control of BK generation. A decreased activity of C1-inhibitor is the hallmark of C1-INH-HAE (types 1 and 2) due to a mutation in the C1-inhibitor gene, whereas the deficiency in C1-inhibitor in C1-INH-AAE is the result of autoimmune phenomena. In HAE with normal C1-inhibitor, a significant percentage of patients have an increased activity of factor XIIa due to a FXII mutation (FXII-HAE). Treatment of C1-inhibitordependent angioedema focuses on restoring control of BK generation by inhibition of CP proteases by correcting the balance between CP inhibitors and BK breakdown or by inhibition of BK-mediated effects at the BKR2 on endothelial cells. This review will address the pathophysiology, clinical picture, diagnosis and available treatment in C1-inhibitor-dependent angioedema focusing on BK-release and its regulation. ä KEY MESSAGESInadequate control of bradykinin formation results in the formation of characteristic subcutaneous and submucosal edemas of the skin, upper airways, facial structures, abdomen and extremities as seen in hereditary and acquired C1-inhibitor-dependent angioedema. Diagnosis of hereditary and acquired C1-inhibitor-dependent angioedema may be troublesome as illustrated by the fact that there is a significant delay in diagnosis; a certain grade of suspicion is therefore crucial for quick diagnosis. Submucosal edema formation in hereditary and acquired C1-inhibitor-dependent angioedema is potentially life threatening and can occur at any age. To date effective therapies for acute and prophylactic treatment are available. ARTICLE HISTORY

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Section: Clinical Picturementioning

confidence: 99%

Hereditary and acquired C1-inhibitor-dependent angioedema: from pathophysiology to treatment

Zeerleder

Levi

2016

Annals of Medicine

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“…Especially, delayed treatment of laryngeal swelling can cause death (11,13). Zanichelli et al (28) reported that the median age of the first symptoms was 12.0 years, and the corresponding median age at diagnosis was 24.3 years (29). In our survey, the median age at diagnosis of untested blood relatives was too late (41 years).…”

Section: Discussionmentioning

confidence: 54%

“…Table 2. Clinical, demographic and laboratory findings of screened untested relatives of HAE index patients morbidity and mortality, adverse events, and unnecessary surgical interventions (27,28). Especially, delayed treatment of laryngeal swelling can cause death (11,13).…”

Section: Discussionmentioning

confidence: 99%

Prevalence and Clinical Manifestations of Hereditary Angioedema in Untested Close and Distant Blood Relatives of Hereditary Angioedema Index Patients in a City, Turkey

Özdemir¹,

Elmas²

2017

JAREM

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Objective: Hereditary angioedema (HAE) is a rare autosomal-dominant disease characterized by recurring attacks of nonpruritic, nonpitting edema caused by an inherited deficiency or dysfunction in the C1 esterase inhibitor (C1 INH). Symptoms present years before an accurate diagnosis is made. Our aim was to determine the prevalence and clinical manifestations of HAE in untested blood relatives of HAE index patients in a city of Düzce province, Turkey.Methods: Overall, 4 index patients with HAE and 60/118 blood relatives enrolled in the study. The mean age of the enrolled untested subjects (29 female+31 male) was 41 years. The enrolled subjects underwent complement testing (C4, C1 INH antigen, and functional C1 INH). If the laboratory tests were abnormal, the enrolled subjects were questioned on clinical manifestations and scheduled for a follow-up visit.Results: Except for 4 index cases, 60 relatives enrolled in the study underwent complement testing, and 36.6% of them were diagnosed Type 1 and 1.6% Type 2. HAE could not be ruled out in 6.6% of the subjects. In 55% of the untested blood relatives, the HAE disorder was ruled out. Of 23 (22; type 1+ 1; type 2) newly diagnosed subjects, 9 (39%) reported having experienced symptoms that may have been related to HAE, such as swelling in the face, genitourinary region, extremities or abdominal pain. The median age of 9 symptomatic patients was 42 (25-75) years, whereas newly diagnosed asymptomatic subjects had a median chronological age of 17 (9-74) years.Conclusions: This study's findings reinforce the importance of screening family members and relatives of index patients with HAE to detect this hereditary condition.

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“…Although they have few side efects involving most commonly nausea, vomiting, and diarrhea, which are dose-dependent, they are not as efective as androgens. In some earlier studies, antiibrinolytics were observed to decrease the frequency of atacks; however, in a recently published study, no differences were detected between groups with and without antiibrinolytics [59][60][61]. As a consequence, they suggested antiibrinolytics for long-term prophylaxis where plasma-derived C1-inh is not accessible and androgens are not suitable for use [55].…”

Section: -α Alkylatedmentioning

confidence: 83%

Hereditary Angioedema

Gelincik¹,

Demir²

2017

A Comprehensive Review of Urticaria and Angioedema

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Hereditary angioedema (HAE) is an autosomal dominantly inherited orphan disease manifested by recurrent unpredictable nonpiting and nonpruritic swelling atacks without urticarial plaques. HAE is caused by a deiciency of the C1 esterase inhibitor (C1-inh) or decreased function of C1-inh. Type 1 HAE, the most common form, occurs due to C1-inh deiciency and is seen with low-serum C1-inh levels. In type 2 HAE, the function of C1-inh is impaired, and in HAE with normal C1-inh serum levels, the function of C1-inh is normal. HAE episodes can afect various sites in the body such as the larynx, face, extremities, gastrointestinal tract, and urogenital area. Acute episodes can be treated with C1-inh concentrates, a kallikrein inhibitor, called ecallantide and bradykinin B2 receptor antagonist, icatibant. Depending on the frequency, severity, and location of the episodes, long-term prophylaxis regimens with plasma-derived C1-inh concentrates, antiibrinolytics, or 17α-alkylated androgens can be used. C1-inh concentrates or 17α-alkylated androgens should be administered before dental procedures and minor or major surgical interventions to provide short-term prophylaxis. In conclusion, HAE is a rare life-threatening disease of which clinical presentation is highly variable and early accurate diagnosis signiicantly prevents mortality and morbidity.

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Standard care impact on angioedema because of hereditary C1 inhibitor deficiency: a 21-month prospective study in a cohort of 103 patients

Cited by 83 publications

References 19 publications

Hereditary and acquired C1-inhibitor-dependent angioedema: from pathophysiology to treatment

Hereditary and acquired C1-inhibitor-dependent angioedema: from pathophysiology to treatment

Prevalence and Clinical Manifestations of Hereditary Angioedema in Untested Close and Distant Blood Relatives of Hereditary Angioedema Index Patients in a City, Turkey

Hereditary Angioedema

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