TY - JOUR
T1 - Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency
AU - van Schaarenburg, Rosanne A.
AU - Schejbel, Lone
AU - Truedsson, Lennart
AU - Topaloglu, Rezan
AU - Al-Mayouf, Sulaiman M.
AU - Riordan, Andrew
AU - Simon, Anna
AU - Kallel-Sellami, Maryam
AU - Arkwright, Peter D.
AU - Åhlin, Anders
AU - Hagelberg, Stefan
AU - Nielsen, Susan
AU - Shayesteh, Alexander
AU - Morales, Adelaida
AU - Tam, Schuman
AU - Genel, Ferah
AU - Berg, Stefan
AU - Ketel, Arnoldus G.
AU - Merlijn van den Berg, J.
AU - Kuijpers, Taco W.
AU - Olsson, Richard F.
AU - Huizinga, Tom W. J.
AU - Lankester, Arjan C.
AU - Trouw, Leendert A.
PY - 2015
Y1 - 2015
N2 - 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. 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. 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. 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
AB - 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. 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. 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. 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
U2 - https://doi.org/10.1016/j.jaut.2015.06.002
DO - https://doi.org/10.1016/j.jaut.2015.06.002
M3 - Article
C2 - 26119135
SN - 0896-8411
VL - 62
SP - 39
EP - 44
JO - Journal of autoimmunity
JF - Journal of autoimmunity
ER -