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Emergencies in systemic lupus erythematosus
Published in Biju Vasudevan, Rajesh Verma, Dermatological Emergencies, 2019
Vishalakshi Viswanath, Rashmi Modak
Urticaria and angioedema constitute one of the most common dermatology referrals in the ED. SLE patients may rarely present to the ED with urticaria, urticarial vasculitis, or angioedema. Chronic autoimmune urticaria may be a rare initial manifestation in LE patients [17]. Urticarial vasculitis presents as painful urticarial lesions lasting for greater than 24 hours, leaving a characteristic postinflammatory hyperpigmentation, characterized by leukocytoclastic vasculitis and hypocomplementemia (Figure 40.10). Few cases of angioedema are reported in SLE. It may be the result of an acquired type of C1 inhibitor deficiency, most probably due to antibody formation directed against the C1 inhibitor molecule [18].
Evaluation of the Immune System
Published in John C Watkinson, Raymond W Clarke, Louise Jayne Clark, Adam J Donne, R James A England, Hisham M Mehanna, Gerald William McGarry, Sean Carrie, Basic Sciences Endocrine Surgery Rhinology, 2018
Moira Thomas, Elizabeth Drewe, Richard J. Powell
Measurement of C3 and C4 levels is helpful in the assessment of patients with systemic inflammatory disorders. As complement components are acute phase proteins, levels of both C3 and C4 are typically raised in systemic vasculitides, sepsis and other inflammatory disorders. However, complement is consumed in systemic immune complex disorders so levels of both C3 and C4 are typically low in active systemic lupus erythematosus (SLE) and levels may vary with disease activity. Isolated low C3 levels with normal C4 levels are a feature of certain glomerulopathies including post-streptococcal nephritis. Complement levels also play a vital role in the investigation of angioedema. Patients with C1-inhibitor deficiency (hereditary angioedema) have low C4 levels (but normal C3 levels) due to uncontrolled turnover of the classical complement pathway; a normal C4 level during an attack of angioedema essentially excludes this diagnosis. C1-inhibitor levels are low in the majority of hereditary angioedema patients but a small proportion have type 2 C1-inhibitor deficiency whereby they have normal levels of a dysfunctional C1-inhibitor. Functional C1-inhibitor assays can be undertaken in those patients with angioedema without urticaria and a low C4 level. Appropriate care must be taken in handling and transport of the sample to avoid in vitro degradation of C1-inhibitor function.
Answers
Published in John D Firth, Professor Ian Gilmore, MRCP Part 2 Self-Assessment, 2018
John D Firth, Professor Ian Gilmore
The hallmark of all forms of C1 inhibitor deficiency is a reduced C4 with normal C3, which is a consequence of uncontrolled activation of the complement classical pathway. At this age the most likely diagnosis is acquired C1 inhibitor deficiency associated with lymphoproliferative disease or more rarely autoantibodies to C1 inhibitor.
Angiotensin-converting enzyme inhibitor induced angioedema: not always a class effect? A case report and short narrative review
Published in Current Medical Research and Opinion, 2021
Guillaume Becker, Fabien Rougerie, Amelia-Naomi Sabo, Marie-Caroline Dalmas, Estelle Ayme-Dietrich, Laurent Monassier
Clinically, bradykinin-mediated angioedema is distinguished from histaminergic angioedema by the absence of pruritus and the lack of efficacy of antihistamines and corticosteroids. It should be noted that some patients may present with erythema, which may appear separately from the edema and can be mistaken for urticaria. While angioedema is a relatively common phenomenon, bradykinin-mediated angioedema is a rare form that includes several subtypes7. It includes autosomal hereditary angioedema types I and II resulting from C1-inhibitor deficiency, and hereditary or acquired angioedema with normal C1-inhibitor activity. Other types of bradykinin-mediated angioedema involve angioedema due to acquired C1-inhibitor deficiency and angiotensin-converting enzyme inhibitor (ACEi)-related angioedema1. The incidence of the latter subtype is about 0.7% in patients treated with ACEis, although it may vary significantly depending on the studied populations8–10. Although the mechanisms of ACEi- and histaminergic-induced angioedema are very different, patients with atopic background are more prone to this ACEi-induced adverse effect. The OCTAVE trial identified black race, history of drug rash, age older than 65 years and seasonal allergies as independent risk factors for angioedema (related to enalapril in this study)11.
Lanadelumab for the treatment of hereditary angioedema
Published in Expert Opinion on Biological Therapy, 2019
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare yet still probably underdiagnosed clinical condition, characterized by recurrent localized swelling of the subcutaneous and sub-mucosal tissues.
Biological therapy in hereditary angioedema: transformation of a rare disease
Published in Expert Opinion on Biological Therapy, 2020
Hilary Longhurst, Henriette Farkas
Remarkable progress in hereditary angioedema management has been underpinned by close collaboration between patient advocacy groups, health care professionals, scientists and the pharmaceutical industry. The C1-INH Deficiency and Angioedema Workshop [76], an event held every two years in Budapest, Hungary since 1999 has been a key event for such co-operation. Since 2012 this workshop has been supplemented by the patient-organized HAE Global Conference [77]. Both events, alongside a host of smaller meetings, attended by patients and professionals, foster an unprecedented level of international scientific, medical and political co-operation. Such fruitful partnerships serve as a paradigm for developing care for other rare diseases. Hereditary angioedema has been transformed from a largely undiagnosed condition, hidden from the view of medical professionals by the reluctance of affected families to seek help in the absence of effective treatment, to one where effective therapeutic options have encouraged those affected to come forward to access therapies enabling control and prevention of swellings, often away from the healthcare setting. The newest prophylactic agents promise to prevent all HAE attacks for the majority of patients. In particular, subcutaneous C1-INH can restore functional levels to normal, with predicted complete freedom from attacks [60] and lanadelumab can prevent all attacks in the majority by restoration of high molecular weight kininogen cleavage to near normal levels [62]. Thus these agents raise the possibility of a ‘cure’ of C1 inhibitor deficiency, providing the patient continues treatment. C1-INH may be preferred for those considering pregnancy where restoration of physiological protein is preferable, or with immune complex-related disorders where control of the complement cascade is desirable. Lanadelumab’s convenience and fortnightly dosing might be preferable for those reluctant to undertake twice weekly injections, or where supervised therapy is required. These, and agents in development, could enable all patient activity to be repatriated to the community and, if available from childhood, prevention of hereditary angioedema-associated psychological and economic problems, which can be difficult to reverse once established [3]. Equally important to the major advances described in this article are the smaller incremental advances, many of which have made significant improvements to individual patient’s lives. These include improvements in formulations, allowing greater flexibility in storage or more convenient vial sizes; educational and training initiatives such as home visits for self-administration training and greater acceptance by physicians, patients and health care payers of the benefits of promptly preventing and treating attacks. Cumulatively such measures have had immense benefit, particularly in facilitating access to treatment.