Volume 9 Supplement 1

Proceedings of 18th Pediatric Rheumatology European Society (PReS) Congress

Open Access

Clinical phenotype of neonatal lupus erythematosus relates to autoantibody level and gender

  • S Venkatesan1Email author,
  • NG Lawrence2,
  • C Carbone2,
  • E Jaeggi3,
  • ED Silverman2 and
  • S Kamphuis1, 2
Pediatric Rheumatology20119(Suppl 1):O14

DOI: 10.1186/1546-0096-9-S1-O14

Published: 14 September 2011

Background

Neonatal Lupus Erythematodus (NLE) is a rare disease occurring in offspring from mothers with anti-Ro with or without anti-La antibodies. Much is known about the individual manifestations (congenital heart block (CHB), cutaneous rash, hematologic and hepatic laboratory abnormalities and macrocephaly) but it is unclear how these and other autoantibodies (anti-dsDNA, anti-RNP and anti-Sm antibodies) influence disease phenotype.

Aim

To analyze the frequency and characteristics of clinical phenotypes seen in NLE and relate these phenotypes to the quality and quantity of autoantibodies.

Methods

A cohort of 261 infants whose mothers had anti-Ro antibodies was followed prospectively at The Hospital for Sick Children. All infants underwent the first full clinical evaluation and laboratory testing between 4-12 weeks after birth.

Results

A small majority of infants (150/261, 57%) had one or more NLE manifestations consisting of 56 (37%) with a cutaneous rash, 44 (29%) had liver function abnormalities, 42 (28%) had CHB, 41 (27%) had neutropenia (<1.0x109/l), 21 (14%) had macrocephaly and 9 (6%) had thrombocytopenia. CHB was an isolated finding in more than half of the cases (26/42), as was neutropenia (23/41); the other NLE manifestations most often presented in combination. Where the cohort of NLE patients had slightly more females (59% versus 41% males), a larger majority of patients with CHB were females (74%), but macrocephaly was seen more in males (62%). The chance of developing NLE was associated with increasing levels of anti-Ro antibodies. Macrocephaly was only seen in infants that still had a positive anti-Ro titer when sampled after birth. Increasing levels of anti-La antibodies were associated primarily with cutaneous rash. Anti-dsDNA, anti-RNP and anti-Sm antibodies were present in less than 5% of infants and could not be related to clinical phenotype.

Conclusion

In this large cohort of prospectively followed infants from mothers with anti-Ro antibodies, a majority developed NLE. The clinical phenotype of NLE appeared to be related to gender and to the quantity of anti-Ro and -La antibodies.

Authors’ Affiliations

(1)
Department of Rheumatology, Sophia’s Children Hospital, Erasmus University MC Rotterdam
(2)
Department of Rheumatology, The Hospital for Sick Children
(3)
Department of Cardiology, The Hospital for Sick Children

Copyright

© Venkatesan et al; licensee BioMed Central Ltd. 2011

This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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