title: Hereditary angioedema and lupus: A French retrospective study and literature review.
abstract: Hereditary angioedema (HAE) is a rare genetic disorder that is primarily caused by a defect in the C1 inhibitor (C1-INH). The recurrent symptoms are subcutaneous edema and abdominal pain. Laryngeal edema, which can also occur, is life threatening if it goes untreated. HAE can be associated with some inflammatory and autoimmune disorders, particularly lupus. The aim of this study was to describe cases of lupus among HAE patients in France and to perform a literature review of lupus and HAE studies. Case detection and data collection (a standardized form) were performed, thanks to the French Reference Center for Kinin-related angioedema. Data were collected from 6 patients with type 1 HAE and lupus in France; no cases of systemic lupus erythematosus were reported. In the literature review, 32 cases of lupus combined with HAE were identified, including 26 female patients. The median patient age at the time of first reported HAE symptoms and at diagnosis were 17.5 years (range, 9-41 years) and 19 years (range, 9-64 years), respectively for our 6 patients and 14 years (range, 3-30 years) and 17 years (range, 7-48 years), respectively, for the literature review. The clinical manifestations of HAE were mainly abdominal pain (83% in our patients vs 47% in the literature) and edema of the limbs (83% vs 38%). The C4 levels were low (for 100% of our cases vs 93% in the literature). Eighteen patients in the literature demonstrated HAE symptoms prior to the lupus onset vs 5 for our patients. The mean patient age at lupus onset was 20 years (range, 13-76 years) for our patients and 19.5 years (range, 1-78 years) in the literature, respectively. In the literature, 81% of the patients had skin manifestations, 25% had renal involvement and 28% received systemic steroids to treat lupus. Treatment with danazol did not modify the clinical expression of lupus. The association between lupus and HAE is a rare but not unanticipated event. Patients are often symptomatic for HAE before developing lupus. Lupus cases associated with HAE share some characteristics of lupus cases related to other complement deficiencies, such as the absence of severity and the predominance of cutaneous symptoms.
authors: Department of Dermatovenereology, Karolinska Hospital and Department of Medicine, Karolinska Institute, Stockholm, Sweden. Electronic address: gs.irene@gmail.com.
authors: Irène
authors: I
authors: Gallais Sérézal
authors: Department of Internal Medicine, National Reference Centre for Angioedema, Grenoble University Hospital, Boulevard de la Chantourne, 38700 La Tronche, France. Electronic address: lbouillet@chu-grenoble.fr.
authors: Laurence
authors: L
authors: Bouillet
authors: Department of Internal Medicine, Avicenne University Hospital, APHP, 125 rue de Stalingrad, 93000 Bobigny, France. Electronic address: robin.dhote@avc.aphp.fr.
authors: Robin
authors: R
authors: Dhôte
authors: Department of Internal Medicine, Marseille University Hospital, Hôpital de la Timone, 264 rue Saint-Pierre, 13385 Marseille Cedex 05, France. Electronic address: Stephane.GAYET@ap-hm.fr.
authors: Stéphane
authors: S
authors: Gayet
authors: Department of Internal Medicine, Nice University Hospital - Hôpital l'Archet 1, 151 Route Saint-Antoine de Ginestière, BP 3079 06202 Nice Cedex 3, France. Electronic address: jeandel.py@chu-nice.fr.
authors: Pierre-Yves
authors: PY
authors: Jeandel
authors: Department of Internal Medicine, Niort Hospital, 40 Avenue Charles de Gaulle, 79000 Niort, France. Electronic address: Claire.blanchard-delaunay@ch-niort.fr.
authors: Claire
authors: C
authors: Blanchard-Delaunay
authors: Department of Dermatology, Angers University Hospital, 4 Rue Larrey, 49933 Angers Cedex 9, France. Electronic address: lumartin@chu-angers.fr.
authors: Ludovic
authors: L
authors: Martin
authors: DHU I2B, University Paris 6, Department of Internal Medicine, Saint Antoine Hospital, APHP, 184 rue du faubourg Saint Antoine, 75012 Paris, France. Electronic address: arsene.mekinian@sat.aphp.fr.
authors: Arsène
authors: A
authors: Mekinian
authors: DHU I2B, University Paris 6, Department of Internal Medicine, Saint Antoine Hospital, APHP, 184 rue du faubourg Saint Antoine, 75012 Paris, France. Electronic address: olivier.fain@sat.aphp.fr.
authors: Olivier
authors: O
authors: Fain
mesh_terms: D054179:Angioedemas, Hereditary / Q000276:immunology*; D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; D005602:France; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000188:drug therapy / Q000276:immunology*; D013256:Steroids / Q000627:therapeutic use
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human; D013256:Steroids
keywords: Autoimmune diseases; C1 Inhibitor deficiency; Hereditary angioedema; Hereditary angioedema with normal C1 inhibitor activity; Lupus erythematosus, cutaneous; Lupus erythematosus, systemic