Sandra Berody1, Caroline Galeotti2, Isabelle Koné-Paut3, Maryam Piram4. 1. Department of Pediatric Rheumatology, National referral centre for auto-inflammatory diseases (CEREMAI), CHU de Bicêtre, AP-HP, Le Kremlin-Bicêtre, France. 2. Department of Pediatric Rheumatology, National referral centre for auto-inflammatory diseases (CEREMAI), CHU de Bicêtre, AP-HP, Le Kremlin-Bicêtre, France. Electronic address: caroline.galeotti@gmail.com. 3. Department of Pediatric Rheumatology, National referral centre for auto-inflammatory diseases (CEREMAI), CHU de Bicêtre, AP-HP, Le Kremlin-Bicêtre, France; University of Paris Sud, Le Kremlin-Bicêtre, France. 4. Department of Pediatric Rheumatology, National referral centre for auto-inflammatory diseases (CEREMAI), CHU de Bicêtre, AP-HP, Le Kremlin-Bicêtre, France; University of Paris Sud, Le Kremlin-Bicêtre, France; Inserm U1018 CESP, Le Kremlin-Bicêtre, France.
Abstract
UNLABELLED: Mevalonate kinase deficiency (MKD) is an autosomic recessive auto-inflammatory disease caused by mutations of the MVK gene. MKD being a very rare disease, numerous misdiagnoses and medical referrals may precede the right diagnosis, amplifying the burden of the disease. OBJECTIVES: To evaluate the patient's medical referrals between the first symptom and the diagnosis of MKD and the diagnosis delay. METHODS: A questionnaire was sent to French paediatric and adult rheumatologists to retrospectively collect information from genetically confirmed patients with MKD regarding the first symptoms of the disease, the different diagnoses made previously, the treatments received, and the disease burden evaluated mainly by the number of hospitalizations. RESULTS: Thirteen patients were analyzed. The mean age at onset was 9.5months (birth to 36months). The average diagnosis delay was 7.1years. Eleven of them were hospitalized at least 5 times before the establishment of the diagnosis. A wide variety of diseases had been suspected: systemic juvenile idiopathic arthritis, periodic fever aphtous stomatitis pharyngitis adenitis syndrome, other hereditary recurrent fever, vasculitis, connective tissue disease, inflammatory bowel disease, gastritis, infections and immunodeficiency. Before the right diagnosis, 9 patients received corticosteroids and 6 patients received non-steroidal-anti-inflammatory drugs. Half patients had received repeated antibiotics, one third had received intravenous immunoglobulin, and the others were treated with immunosuppressive drugs or hydroxychloroquine. CONCLUSIONS: MKD is a serious disease still difficult to treat, however earlier accurate medical referral and care, by increasing physicians' awareness, is critical to improve both the disease course and quality of life.
UNLABELLED: Mevalonate kinase deficiency (MKD) is an autosomic recessive auto-inflammatory disease caused by mutations of the MVK gene. MKD being a very rare disease, numerous misdiagnoses and medical referrals may precede the right diagnosis, amplifying the burden of the disease. OBJECTIVES: To evaluate the patient's medical referrals between the first symptom and the diagnosis of MKD and the diagnosis delay. METHODS: A questionnaire was sent to French paediatric and adult rheumatologists to retrospectively collect information from genetically confirmed patients with MKD regarding the first symptoms of the disease, the different diagnoses made previously, the treatments received, and the disease burden evaluated mainly by the number of hospitalizations. RESULTS: Thirteen patients were analyzed. The mean age at onset was 9.5months (birth to 36months). The average diagnosis delay was 7.1years. Eleven of them were hospitalized at least 5 times before the establishment of the diagnosis. A wide variety of diseases had been suspected: systemic juvenile idiopathic arthritis, periodic fever aphtous stomatitis pharyngitis adenitis syndrome, other hereditary recurrent fever, vasculitis, connective tissue disease, inflammatory bowel disease, gastritis, infections and immunodeficiency. Before the right diagnosis, 9 patients received corticosteroids and 6 patients received non-steroidal-anti-inflammatory drugs. Half patients had received repeated antibiotics, one third had received intravenous immunoglobulin, and the others were treated with immunosuppressive drugs or hydroxychloroquine. CONCLUSIONS: MKD is a serious disease still difficult to treat, however earlier accurate medical referral and care, by increasing physicians' awareness, is critical to improve both the disease course and quality of life.
Authors: Micol Romano; Z Serap Arici; David Piskin; Sara Alehashemi; Daniel Aletaha; Karyl Barron; Susanne Benseler; Roberta A Berard; Lori Broderick; Fatma Dedeoglu; Michelle Diebold; Karen Durrant; Polly Ferguson; Dirk Foell; Jonathan S Hausmann; Olcay Y Jones; Daniel Kastner; Helen J Lachmann; Ronald M Laxer; Dorelia Rivera; Nicola Ruperto; Anna Simon; Marinka Twilt; Joost Frenkel; Hal M Hoffman; Adriana A de Jesus; Jasmin B Kuemmerle-Deschner; Seza Ozen; Marco Gattorno; Raphaela Goldbach-Mansky; Erkan Demirkaya Journal: Arthritis Rheumatol Date: 2022-05-27 Impact factor: 15.483