Angiooedema Due to Acquired Deficiency of C1-Esterase Inhibitor Associated with Leucocytoclastic Vasculitis

Farkas, Henriette; Szongoth, M; Bély, M.; Fekete, B.; Karádi, I; Füst, George

doi:10.1080/00015550152572985

Cited by 22 publications

(8 citation statements)

References 2 publications

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“…In a proportion of cases, this lesion can evolve as an independent phenomenon, without a subsequent attack. In our study population, this symptom occurred in 42 per cent of patients [33], whereas B YGUM observed it in 58 per cent of cases [15]. Its appearance is a potential differential diagnostic pitfall, because a similar skin lesion can evolve in viral or bacterial infections, as well as it can be misdiagnosed as urticaria [34].…”

Section: Diagnosismentioning

confidence: 97%

Pediatric hereditary angioedema due to C1-inhibitor deficiency

Farkas

2010

All Asth Clin Immun

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169

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Hereditary angioedema (HAE) resulting from the deficiency of the C1 inhibitor (C1-INH) is a rare, life-threatening disorder. It is characterized by attacks of angioedema involving the skin and/or the mucosa of the upper airways, as well as the intestinal mucosa. In approximately 50 per cent of cases, clinical manifestations may appear during childhood. The complex management of HAE in pediatric patients is in many respects different from the management of adults. Establishing the diagnosis early, preferably before the onset of clinical symptoms, is essential in cases with a positive family history. Complement studies usually afford accurate diagnosis, whereas molecular genetics tests may prove helpful in uncertain cases. Appropriate therapy, supported by counselling, suitable modification of lifestyle, and avoidance of triggering factors (which primarily include mechanical trauma, mental stress and airway infections in children) may spare the patient unnecessary surgery and may prevent mortality. Prompt control of edematous attacks, short-term prophylaxis and intermittent therapy are recommended as the primary means for the management of pediatric cases. Medicinal products currently used for the treatment of children with hereditary angioedema include antifibrinolytics, attenuated androgens, and C1-INH replacement therapy. Current guidelines favour antifibrinolytics for long-term prophylaxis because of their favorable safety profile but efficacy may be lacking. Attenuated androgens administered in the lowest effective dose are another option. C1-INH replacement therapy is also an effective and safe agent for children. Regular monitoring and follow-up of patients are necessary.

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Section: Diagnosismentioning

confidence: 97%

Pediatric hereditary angioedema due to C1-inhibitor deficiency

Farkas

2010

All Asth Clin Immun

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169

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“…Differences include onset in later age, often underlying diseases such as lymphoma or monoclonal gammopathy, occasional constitutional symptoms, and depressed C1 q-r-s levels. C1q level measurements should be obtained to investigate patients for AAE-C1-INH, especially with new onset of angioedema after the age of 40 years [80-82]. …”

Section: Pathophysiologymentioning

confidence: 99%

WAO Guideline for the Management of Hereditary Angioedema

Craig

Pürsün

Bork

et al. 2012

World Allergy Organization Journal

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290

428

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Hereditary Angioedema (HAE) is a rare disease and for this reason proper diagnosis and appropriate therapy are often unknown or not available for physicians and other health care providers. For this reason we convened a group of specialists that focus upon HAE from around the world to develop not only a consensus on diagnosis and management of HAE, but to also provide evidence based grades, strength of evidence and classification for the consensus. Since both consensus and evidence grading were adhered to the document meets criteria as a guideline. The outcome of the guideline is to improve diagnosis and management of patients with HAE throughout the world and to help initiate uniform care and availability of therapies to all with the diagnosis no matter where the residence of the individual with HAE exists.

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“…Scattered reports describe acquired C1-INH deficiency associated with nonhematologic neoplasm, infections, or autoimmune diseases, whereas 14% of patients with acquired C1-INH deficiency have no other disease. 105,[118][119][120][121][122][123][124][125][126] In 1986, autoantibodies inactivating C1-INH were first detected in patients with acquired C1-INH deficiency. 127 Initially, autoantibodies inactivating C1-INH were identified in otherwise healthy patients.…”

Section: Angioedema Caused By Acquired C1-inh Deficiencymentioning

confidence: 99%

“…89,155,161 Hence, many different mutations can lead to dysfunctional C1-INH, as recently reviewed. 121,162 Strategies for mutation analyses of the C1NH gene. Molecular genetic analysis of C1NH gene anomalies in patients serves as a supplementary diagnostic tool for accurate diagnosis at the molecular level.…”

Section: Aae: Further Distinctionsmentioning

confidence: 99%

Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond

Agostoni¹,

Aygören‐Pürsün²,

Binkley³

et al. 2004

Journal of Allergy and Clinical Immunology

589

658

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Hereditary angioedema (HAE), a rare but life-threatening condition, manifests as acute attacks of facial, laryngeal, genital, or peripheral swelling or abdominal pain secondary to intra-abdominal edema. Resulting from mutations affecting C1 esterase inhibitor (C1-INH), inhibitor of the first complement system component, attacks are not histamine-mediated and do not respond to antihistamines or corticosteroids. Low awareness and resemblance to other disorders often delay diagnosis; despite availability of C1-INH replacement in some countries, no approved, safe acute attack therapy exists in the United States. The biennial C1 Esterase Inhibitor Deficiency Workshops resulted from a European initiative for better knowledge and treatment of HAE and related diseases. This supplement contains work presented at the third workshop and expanded content toward a definitive picture of angioedema in the absence of allergy. Most notably, it includes cumulative genetic investigations; multinational laboratory diagnosis recommendations; current pathogenesis hypotheses; suggested prophylaxis and acute attack treatment, including home treatment; future treatment options; and analysis of patient subpopulations, including pediatric patients and patients whose angioedema worsened during pregnancy or hormone administration. Causes and management of acquired angioedema and a new type of angioedema with normal C1-INH are also discussed. Collaborative patient and physician efforts, crucial in rare diseases, are emphasized. This supplement seeks to raise awareness and aid diagnosis of HAE, optimize treatment for all patients, and provide a platform for further research in this rare, partially understood disorder.

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Angiooedema Due to Acquired Deficiency of C1-Esterase Inhibitor Associated with Leucocytoclastic Vasculitis

Cited by 22 publications

References 2 publications

Pediatric hereditary angioedema due to C1-inhibitor deficiency

Pediatric hereditary angioedema due to C1-inhibitor deficiency

WAO Guideline for the Management of Hereditary Angioedema

Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond

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