Rosanne A van Schaarenburg1, Lone Schejbel2, Lennart Truedsson3, Rezan Topaloglu4, Sulaiman M Al-Mayouf5, Andrew Riordan6, Anna Simon7, Maryam Kallel-Sellami8, Peter D Arkwright9, Anders Åhlin10, Stefan Hagelberg10, Susan Nielsen11, Alexander Shayesteh12, Adelaida Morales13, Schuman Tam14, Ferah Genel15, Stefan Berg16, Arnoldus G Ketel17, J Merlijn van den Berg18, Taco W Kuijpers18, Richard F Olsson19, Tom W J Huizinga1, Arjan C Lankester20, Leendert A Trouw21. 1. Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. 2. Department of Clinical Immunology, Laboratory of Molecular Medicine, Rigshospitalet, Copenhagen, Denmark. 3. Department of Laboratory Medicine, Section of Microbiology, Immunology and Glycobiology, Lund University, Lund, Sweden. 4. Dept of Pediatric Nephrology and Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 5. Pediatric Rheumatology Department, King Faisal Specialist Hospital & Research Center, Alfaisal University, Riyadh, Kingdom of Saudi Arabia. 6. Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom. 7. Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. 8. La Rabta Hospital, Tunis, Tunisia. 9. University of Manchester, Manchester, United Kingdom. 10. Department of Clinical Science and Education, Sachs' Children's Hospital, Karolinska Institutet, Stockholm, Sweden. 11. Pediatric Rheumatology Rigshospitalet, Copenhagen, Denmark. 12. Department of Dermatology and Venereology Umeå University, Umeå, Sweden. 13. Nephrology Unit from Hospital Dr Molina Orosa. Ctra. Arrecife-Tinajo, Lanzarote, Spain. 14. Asthma & Allergy Clinic of Marin & San Francisco Inc, San Francisco, USA. 15. Dr Behcet Uz Children's Hospital, Izmir/Konak, Turkey. 16. Pediatric Immunology, The Queen Silvia Children's Hospital, Goteborg, Sweden. 17. Department of Pediatrics, Spaarne Hospital, Hoofddorp, The Netherlands. 18. Emma Children's Hospital, Academic Amsterdam Medical Center (AMC), Dept of Pediatric Hematology, Immunology and Infectious Disease, University of Amsterdam (UvA), Amsterdam, The Netherlands. 19. Centre for Allogeneic Stem Cell Transplantation, Karolinska University Hospital, Sweden; Division of Therapeutic Immunology, Department of Laboratory Medicine, Karolinska Institutet, Sweden; Centre for Clinical Research Sörmland, Uppsala University, Sweden. 20. Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. 21. Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: L.A.Trouw@lumc.nl.
Abstract
OBJECTIVE: Globally approximately 60 cases of C1q deficiency have been described with a high prevalence of Systemic Lupus Erythematosus (SLE). So far treatment has been guided by the clinical presentation rather than the underlying C1q deficiency. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation. Current literature lacks information on disease progression and quality of life of C1q deficient persons which is of major importance to guide clinicians taking care of patients with this rare disease. METHODS: We performed an international survey, of clinicians treating C1q deficient patients. A high response rate of >70% of the contacted clinicians yielded information on 45 patients with C1q deficiency of which 25 are published. RESULTS: Follow-up data of 45 patients from 31 families was obtained for a median of 11 years after diagnosis. Of these patients 36 (80%) suffer from SLE, of which 16 suffer from SLE and infections, 5 (11%) suffer from infections only and 4 (9%) have no symptoms. In total 9 (20%) of the C1q deficient individuals had died. All except for one died before the age of 20 years. Estimated survival times suggest 20% case-fatality before the age of 20, and at least 50% of patients are expected to reach their middle ages. CONCLUSION: Here we report the largest phenotypic data set on C1q deficiency to date, revealing high variance; with high mortality but also a subset of patients with an excellent prognosis. Management of C1q deficiency requires a personalized approach.
OBJECTIVE: Globally approximately 60 cases of C1q deficiency have been described with a high prevalence of Systemic Lupus Erythematosus (SLE). So far treatment has been guided by the clinical presentation rather than the underlying C1q deficiency. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation. Current literature lacks information on disease progression and quality of life of C1q deficient persons which is of major importance to guide clinicians taking care of patients with this rare disease. METHODS: We performed an international survey, of clinicians treating C1q deficient patients. A high response rate of >70% of the contacted clinicians yielded information on 45 patients with C1q deficiency of which 25 are published. RESULTS: Follow-up data of 45 patients from 31 families was obtained for a median of 11 years after diagnosis. Of these patients 36 (80%) suffer from SLE, of which 16 suffer from SLE and infections, 5 (11%) suffer from infections only and 4 (9%) have no symptoms. In total 9 (20%) of the C1q deficient individuals had died. All except for one died before the age of 20 years. Estimated survival times suggest 20% case-fatality before the age of 20, and at least 50% of patients are expected to reach their middle ages. CONCLUSION: Here we report the largest phenotypic data set on C1q deficiency to date, revealing high variance; with high mortality but also a subset of patients with an excellent prognosis. Management of C1q deficiency requires a personalized approach.
Authors: Rosanne A van Schaarenburg; César Magro-Checa; Jaap A Bakker; Y K Onno Teng; Ingeborg M Bajema; Tom W Huizinga; Gerda M Steup-Beekman; Leendert A Trouw Journal: Front Immunol Date: 2016-12-27 Impact factor: 7.561
Authors: Tristan Struja; Alexander Kutz; Stefan Fischli; Christian Meier; Beat Mueller; Mike Recher; Philipp Schuetz Journal: BMC Med Date: 2017-09-25 Impact factor: 8.775
Authors: Nicholas Brodszki; Ashley Frazer-Abel; Anete S Grumach; Michael Kirschfink; Jiri Litzman; Elena Perez; Mikko R J Seppänen; Kathleen E Sullivan; Stephen Jolles Journal: J Clin Immunol Date: 2020-02-17 Impact factor: 8.317