Cutaneous manifestations of complement deficiencies

Lupus ◽  
2010 ◽  
Vol 19 (9) ◽  
pp. 1096-1106 ◽  
Author(s):  
D. Lipsker ◽  
G. Hauptmann
Keyword(s):  
Complement System ◽  
Lupus Erythematosus ◽  
Gastrointestinal Symptoms ◽  
Cutaneous Manifestations ◽  
Inhibitor Level ◽  
Life Threatening ◽  
Severe Infections ◽  
The Complement System ◽  
Esterase Inhibitor

In this review we address the main cutaneous manifestations and diseases associated with deficiencies in components of the complement system. The first part is devoted to hereditary angioedema, in which acute, sometimes life-threatening recurrent attacks of acute swelling, usually associated with gastrointestinal symptoms, occur. It is related to a structural or functional deficiency of C1 esterase inhibitor. Patients usually have lowered C4 levels, and diagnosis relies on determination of antigenic and/or functional C1 inhibitor level. The second part focuses on lupus erythematosus, as deficiencies in early components of the complement system, such as C1q, C1r, C1s, C2 or C4, are the strongest known disease susceptibility genes for the development of human systemic lupus erythematosus. Severe infections early in life and marked photosensitivity in a patient with lupus erythematosus are clues to an underlying complement deficiency. The genetic background and the clinical associations of the different components of the complement system will be detailed. Lupus (2010) 19, 1096—1106.

scholarly journals Platelet Activation and Anti-Phospholipid Antibodies Collaborate in the Activation of the Complement System on Platelets in Systemic Lupus Erythematosus

PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e99386 ◽  
Author(s):  
Christian Lood ◽  
Helena Tydén ◽  
Birgitta Gullstrand ◽  
Gunnar Sturfelt ◽  
Andreas Jönsen ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Platelet Activation ◽  
Complement System ◽  
Lupus Erythematosus ◽  
Systemic Lupus ◽  
The Complement System

Inherited complement deficiencies

1984 ◽  
Vol 306 (1129) ◽  
pp. 419-430 ◽  
Keyword(s):  
Immune Complex ◽  
Complement System ◽  
Lupus Erythematosus ◽  
Alternative Pathway ◽  
Strong Association ◽  
Factor H ◽  
Complement Deficiency ◽  
Classical Pathway ◽  
The Complement System

Isolated genetic deficiencies of individual components of the complement system have been described in man for all the components of the classical pathway and the membrane attack complex as well as for Factor I, Factor H and properdin. It is only for Factor B and Factor D of the alternative pathway that homozygous deficiency states are not so far known. Complement deficiency states provide the most direct way of looking at the role of the complement system in vivo and emphasize the importance of complement in resistance to bacterial infection and in particular to infection with Neisseria . This association is not unexpected since in vitro studies have shown complement to be an efficient enhancer of phagocytosis and inflammation. The particularly frequent occurrence of neisserial infection may be ascribed to the ability of these organisms to survive in phagocytic cells so that the plasma cytolytic activity provided by complement is needed to kill them. On the other hand the strong association between complement deficiencies and immune-complex diseases - especially systemic lupus erythematosus — was unexpected and seems paradoxical in view of the large part played by complement in the pathogenesis of immune complex mediated tissue damage. The paradox can be explained in part by the necessity for an intact complement system in the solubilization and the proper handling of immune complexes. It is also likely that complement deficiency can allow the persistence of low virulence organisms that produce disease solely by an immune complex mechanism. Recently described deficiencies of complement receptors and their effects in vivo are described.

Dermatologic Manifestations of Sjögren Syndrome

2011 ◽  
Vol 15 (1) ◽  
pp. 8-14 ◽  
Author(s):  
Ashley Kittridge ◽  
Shannon B. Routhouska ◽  
Neil J. Korman
Keyword(s):  
Lupus Erythematosus ◽  
Sjögren Syndrome ◽  
Sjogren Syndrome ◽  
Dry Eyes ◽  
Cutaneous Manifestations ◽  
Non Hodgkin Lymphoma ◽  
Increased Risk ◽  
Life Threatening ◽  
Lymphome Non Hodgkinien ◽  
Dermatologic Manifestations

Background: Sjögren syndrome (SS) is a chronic autoimmune inflammatory disease that involves primarily the exocrine glands, resulting in their functional impairment. SS typically presents as dry eyes (xerophthalmia) and dry mouth (xerostomia). This process can manifest either as the independent phenomenon of primary SS or as secondary SS when found in the context of another autoimmune process, most commonly rheumatoid arthritis or systemic lupus erythematosus. Nearly half of the patients with SS develop cutaneous manifestations, which may include dry skin (xeroderma), palpable and nonpalpable purpura, and/or urticaria-like lesions. These cutaneous manifestations have been underemphasized because they are often overshadowed by the more prominent sicca symptoms. However, certain skin findings are of paramount clinical and prognostic importance as they confer an increased risk for the development of life-threatening conditions, including multisystem vasculitis and non-Hodgkin lymphoma. Objective and Conclusions: In this review, the cutaneous manifestations of primary SS are discussed, with an emphasis on those findings that portend an increased risk of mortality. Antécédent: Le syndrome de Sjögren (SS) est une maladie autoimmune inflammatoire chronique qui affecte principalement les glandes exocrines, menant à leur incapacité fonctionnelle. SS se caractérise typiquement par une xérophtalmie (sècheresse des yeux) et une xérostomie (bouche sèche). Ces symptômes peuvent apparaître en tant que manifestations indépendantes du SS primaire ou comme SS secondaire, c'est-à-dire comme conséquence d'une autre affection autoimmune, le plus souvent l'arthrite rhumatoïde, ou le lupus érythémateux systémique. Près de la moitié des patients présente des manifestations cutanées de la maladie, dont une peau sèche (xérodermie) et des lésions palpables ou non de purpura ou ressemblant à l'urticaire. Ces manifestations cutanées n'ont pas été suffisamment soulignées car elles sont souvent éclipsées par des symptômes plus notables de la maladie. Toutefois, certaines manifestations cutanées sont d'une grande importance dans le diagnostic clinique et dans le pronostic, car elles représentent une indication d'un risque plus élevé de développer une maladie mortelle telle que la vascularite multisystémique et le lymphome non hodgkinien.

scholarly journals Ecallantide for the Treatment of Hereditary Angiodema in Adults

2011 ◽  
Vol 5 ◽  
pp. CMC.S4434 ◽  
Author(s):  
Michael Lunn ◽  
Erin Banta
Keyword(s):  
Upper Airway ◽  
The United States ◽  
Reversible Inhibitor ◽  
Plasma Kallikrein ◽  
Autosomal Dominant Disorder ◽  
Clinical Disorder ◽  
Life Threatening ◽  
The Complement System ◽  
Submucosal Edema ◽  
Esterase Inhibitor

Hereditary angioedema (HAE) is a clinical disorder characterized by a deficiency of C1 esterase inhibitor (C1-INH). HAE has traditionally been divided into two subtypes. Unique among the inherited deficiencies of the complement system, HAE Types I and II are inherited as an autosomal dominant disorder. The generation of an HAE attack is caused by the depletion and/or consumption of C1-inhibitor manifested as subcutaneous or submucosal edema of the upper airway, face, extremities, or gastrointestinal tract mediated by bradykinin. Attacks can be severe and potentially life-threatening, particularly with laryngeal involvement and treatment of acute attacks in the United States has been severely limited. In December 2009 the FDA approved ecallantide for the treatment of acute HAE attacks. Ecallantide is a small recombinant protein acting as a potent, specific and reversible inhibitor of plasma kallikrein which binds to plasma kallikrein blocking its binding site, directly inhibiting the conversion of high molecular weight kininogen to bradykinin. Administered subcutaneously, ecallantide was demonstrated in two clinical trials, EDEMA3 and EDEMA4, to decrease the length and severity of acute HAE attacks. Although there is a small risk for anaphylaxis, which limits home administration, ecallantide is a novel, safe, effective and alternative treatment for acute HAE attacks.

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