Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

Rosanne A van Schaarenburg; Lone Schejbel; Lennart Truedsson; Rezan Topaloglu; Sulaiman M Al-Mayouf; Andrew Riordan; Anna Simon; Maryam Kallel-Sellami; Peter D Arkwright; Anders Åhlin; Stefan Hagelberg; Susan Nielsen; Alexander Shayesteh; Adelaida Morales; Schuman Tam; Ferah Genel; Stefan Berg; Arnoldus G Ketel; J Merlijn van den Berg; Taco W Kuijpers; Richard F Olsson; Tom W J Huizinga; Arjan C Lankester; Leendert A Trouw

doi:10.1016/j.jaut.2015.06.002

Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

Rosanne A van Schaarenburg, Lone Schejbel, Lennart Truedsson, Rezan Topaloglu, Sulaiman M Al-Mayouf, Andrew Riordan, Anna Simon, Maryam Kallel-Sellami, Peter D Arkwright, Anders Åhlin, Stefan Hagelberg, Susan Nielsen, Alexander Shayesteh, Adelaida Morales, Schuman Tam, Ferah Genel, Stefan Berg, Arnoldus G Ketel, J Merlijn van den Berg, Taco W KuijpersRichard F Olsson, Tom W J Huizinga, Arjan C Lankester, Leendert A Trouw

31 Citations (Scopus)

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.

Original language	English
Journal	Journal of Autoimmunity
Volume	62
Pages (from-to)	39-44
Number of pages	6
ISSN	0896-8411
DOIs	https://doi.org/10.1016/j.jaut.2015.06.002
Publication status	Published - Aug 2015

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van Schaarenburg, R. A., Schejbel, L., Truedsson, L., Topaloglu, R., Al-Mayouf, S. M., Riordan, A., Simon, A., Kallel-Sellami, M., Arkwright, P. D., Åhlin, A., Hagelberg, S., Nielsen, S., Shayesteh, A., Morales, A., Tam, S., Genel, F., Berg, S., Ketel, A. G., Merlijn van den Berg, J., ... Trouw, L. A. (2015). Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency. Journal of Autoimmunity, 62, 39-44. https://doi.org/10.1016/j.jaut.2015.06.002

van Schaarenburg, RA, Schejbel, L, Truedsson, L, Topaloglu, R, Al-Mayouf, SM, Riordan, A, Simon, A, Kallel-Sellami, M, Arkwright, PD, Åhlin, A, Hagelberg, S, Nielsen, S, Shayesteh, A, Morales, A, Tam, S, Genel, F, Berg, S, Ketel, AG, Merlijn van den Berg, J, Kuijpers, TW, Olsson, RF, Huizinga, TWJ, Lankester, AC & Trouw, LA 2015, 'Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency', Journal of Autoimmunity, vol. 62, pp. 39-44. https://doi.org/10.1016/j.jaut.2015.06.002

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title = "Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency",

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.",

author = "{van Schaarenburg}, {Rosanne A} and Lone Schejbel and Lennart Truedsson and Rezan Topaloglu and Al-Mayouf, {Sulaiman M} and Andrew Riordan and Anna Simon and Maryam Kallel-Sellami and Arkwright, {Peter D} and Anders {\AA}hlin and Stefan Hagelberg and Susan Nielsen and Alexander Shayesteh and Adelaida Morales and Schuman Tam and Ferah Genel and Stefan Berg and Ketel, {Arnoldus G} and {Merlijn van den Berg}, J and Kuijpers, {Taco W} and Olsson, {Richard F} and Huizinga, {Tom W J} and Lankester, {Arjan C} and Trouw, {Leendert A}",

year = "2015",

month = aug,

doi = "10.1016/j.jaut.2015.06.002",

language = "English",

volume = "62",

pages = "39--44",

journal = "Journal of Autoimmunity",

issn = "0896-8411",

publisher = "Academic Press",

}

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 - 2015/8

Y1 - 2015/8

N2 - 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.

AB - 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.

U2 - 10.1016/j.jaut.2015.06.002

DO - 10.1016/j.jaut.2015.06.002

M3 - Journal article

C2 - 26119135

SN - 0896-8411

VL - 62

SP - 39

EP - 44

JO - Journal of Autoimmunity

JF - Journal of Autoimmunity

ER -

Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

Abstract

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