Marie Meeths1,2, AnnaCarin Horne1, Magnus Sabel3, Yenan T Bryceson4,5, Jan-Inge Henter1. 1. Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden. 2. Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden. 3. Department of Women's and Children's Health, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden. 4. Centre for Infectious Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden. 5. Broegelmann Research Laboratory, Department of Clinical Sciences, Univerisity of Bergen, Bergen, Norway.
Abstract
BACKGROUND: Primary hemophagocytic lymphohistiocytosis (HLH) represents a group of inherited hyperinflammatory immunodeficiencies, including familial HLH (FHL), Griscelli syndrome type 2 (GS2), and X-linked lymphoproliferative syndrome (XLP). We previously reported an annual incidence of suspected primary HLH in Sweden 1971-1986 of 0.12 per 100,000 children. Here, we determined if the incidence had increased with concomitant awareness. PROCEDURE: Children <15 years old presenting with HLH 1987-2006 in Sweden were identified through the national mortality registry as well as by nation-wide inquiries to all pediatric centers. HLH was diagnosed according to the HLH-2004 diagnostic guidelines (in case of missing data of at least three of the eight diagnostic criteria, fulfillment of four was sufficient for inclusion). We defined primary HLH as patients presenting with HLH requiring transplantation or dying of disease. RESULTS: Remarkably, the minimal annual incidence rate of primary HLH remained 0.12 per 100,000 children, equating to 1.8 per 100,000 live births. Notably, an increased overall survival was observed in 1997-2006, relative to the period 1987-1996. During the subsequent 5-year period, 2007-2011, the incidence of genetically and/or functionally verified primary HLH was 0.15 per 100,000 children per year, suggesting that new assays may aid the identification of patients with primary HLH. CONCLUSION: The annual incidence of primary HLH in Sweden is 0.12-0.15 per 100,000 children per year. Pediatr Blood Cancer 2015;62:346-352.
BACKGROUND:Primary hemophagocytic lymphohistiocytosis (HLH) represents a group of inherited hyperinflammatory immunodeficiencies, including familial HLH (FHL), Griscelli syndrome type 2 (GS2), and X-linked lymphoproliferative syndrome (XLP). We previously reported an annual incidence of suspected primary HLH in Sweden 1971-1986 of 0.12 per 100,000 children. Here, we determined if the incidence had increased with concomitant awareness. PROCEDURE: Children <15 years old presenting with HLH 1987-2006 in Sweden were identified through the national mortality registry as well as by nation-wide inquiries to all pediatric centers. HLH was diagnosed according to the HLH-2004 diagnostic guidelines (in case of missing data of at least three of the eight diagnostic criteria, fulfillment of four was sufficient for inclusion). We defined primary HLH as patients presenting with HLH requiring transplantation or dying of disease. RESULTS: Remarkably, the minimal annual incidence rate of primary HLH remained 0.12 per 100,000 children, equating to 1.8 per 100,000 live births. Notably, an increased overall survival was observed in 1997-2006, relative to the period 1987-1996. During the subsequent 5-year period, 2007-2011, the incidence of genetically and/or functionally verified primary HLH was 0.15 per 100,000 children per year, suggesting that new assays may aid the identification of patients with primary HLH. CONCLUSION: The annual incidence of primary HLH in Sweden is 0.12-0.15 per 100,000 children per year. Pediatr Blood Cancer 2015;62:346-352.
Authors: Matthias Felber; Colin G Steward; Karim Kentouche; Anders Fasth; Robert F Wynn; Ulrike Zeilhofer; Veronika Haunerdinger; Benjamin Volkmer; Seraina Prader; Bernd Gruhn; Stephan Ehl; Kai Lehmberg; Daniel Müller; Andrew R Gennery; Michael H Albert; Fabian Hauck; Kanchan Rao; Paul Veys; Moustapha Hassan; Arjan C Lankester; Jana Pachlopnik Schmid; Mathias M Hauri-Hohl; Tayfun Güngör Journal: Blood Adv Date: 2020-05-12
Authors: Sandra Ammann; Kai Lehmberg; Udo Zur Stadt; Christian Klemann; Sebastian F N Bode; Carsten Speckmann; Gritta Janka; Katharina Wustrau; Mirzokhid Rakhmanov; Ilka Fuchs; Hans C Hennies; Stephan Ehl Journal: J Clin Immunol Date: 2017-09-21 Impact factor: 8.317
Authors: Kenneth L McClain; Camille Bigenwald; Matthew Collin; Julien Haroche; Rebecca A Marsh; Miriam Merad; Jennifer Picarsic; Karina B Ribeiro; Carl E Allen Journal: Nat Rev Dis Primers Date: 2021-10-07 Impact factor: 65.038
Authors: Esther M Ellis; Tyler M Sharp; Janice Pérez-Padilla; Liza González; B Katherine Poole-Smith; Emmaculate Lebo; Charlotte Baker; Mark J Delorey; Brenda Torres-Velasquez; Eduardo Ochoa; Brenda Rivera-Garcia; Hector Díaz-Pinto; Luis Clavell; Anabel Puig-Ramos; Gritta E Janka; Kay M Tomashek Journal: PLoS Negl Trop Dis Date: 2016-08-24
Authors: Michael B Jordan; Carl E Allen; Jay Greenberg; Michael Henry; Michelle L Hermiston; Ashish Kumar; Melissa Hines; Olive Eckstein; Stephan Ladisch; Kim E Nichols; Carlos Rodriguez-Galindo; Birte Wistinghausen; Kenneth L McClain Journal: Pediatr Blood Cancer Date: 2019-07-24 Impact factor: 3.167