title: First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome.
abstract: We describe for the first time a case of macrophage activation syndrome in a child with hyperimmunoglobulinemia D with periodic fever syndrome who required intensive care support. Up-regulated monokine production, high serum levels of triglycerides and ferritin, clotting abnormalities with hypofibrinogenemia, and rapidly evolving pancytopenia should alert the clinician to the possible diagnosis of macrophage activation syndrome, even in autoinflammatory diseases characterized basically by the periodic recurrence of unprovoked inflammatory attacks. Bone marrow aspiration showing well-differentiated macrophages phagocytosing hematopoietic elements remains the main tool for a final diagnosis, and cyclosporine is the best strategy for treatment.
authors.affiliation: Department of Pediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy. drigante@gmail.com
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
authors.forename: Barbara
authors.initials: B
authors.lastname: Bertoni
authors.forename: Valentina
authors.initials: V
authors.lastname: Ansuini
authors.forename: Antonio
authors.initials: A
authors.lastname: Chiaretti
authors.forename: Marco
authors.initials: M
authors.lastname: Piastra
authors.forename: Silvia
authors.initials: S
authors.lastname: Pulitanò
authors.forename: Orazio
authors.initials: O
authors.lastname: Genovese
authors.forename: Adele
authors.initials: A
authors.lastname: Compagnone
authors.forename: Achille
authors.initials: A
authors.lastname: Stabile
mesh_terms: D002648:Child; D010505:Familial Mediterranean Fever / Q000097:blood / Q000276:immunology* / Q000503:physiopathology; D005260:Female; D005293:Ferritins / Q000097:blood; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications / Q000276:immunology*; D007072:Immunoglobulin D / Q000097:blood* / Q000276:immunology; D008262:Macrophage Activation / Q000502:physiology*; D008264:Macrophages / Q000473:pathology / Q000502:physiology; D015846:Monokines / Q000378:metabolism; D010198:Pancytopenia / Q000175:diagnosis / Q000503:physiopathology; D010587:Phagocytosis / Q000502:physiology; D013577:Syndrome; D014280:Triglycerides / Q000097:blood
chemical_list: D007072:Immunoglobulin D; D015846:Monokines; D014280:Triglycerides; D005293:Ferritins