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Semin Thromb Hemost 2024; 50(02): 182-187
DOI: 10.1055/s-0043-1764472
Review Article

Pediatric Presentation of Antiphospholipid Syndrome: A Review of Recent Literature With Estimation of Local Prevalence

Massimo Radin   *
1   Department of Clinical and Biological Sciences, Center of Research of Immunopathology and Rare Diseases-Coordinating Center of Piemonte and Aosta Valley Network for Rare Diseases, University of Turin, S. Giovanni Bosco Hospital, Turin, Italy
2   Nephrology and Dialysis, Department of Clinical and Biological Sciences, S. Giovanni Bosco Hospital and University of Turin, Italy
3   Department of Clinical and Biological Sciences, School of Specialization of Clinical Pathology, University of Turin, Turin, Italy
,
Irene Cecchi   *
1   Department of Clinical and Biological Sciences, Center of Research of Immunopathology and Rare Diseases-Coordinating Center of Piemonte and Aosta Valley Network for Rare Diseases, University of Turin, S. Giovanni Bosco Hospital, Turin, Italy
2   Nephrology and Dialysis, Department of Clinical and Biological Sciences, S. Giovanni Bosco Hospital and University of Turin, Italy
3   Department of Clinical and Biological Sciences, School of Specialization of Clinical Pathology, University of Turin, Turin, Italy
,
Marta Arbrile
3   Department of Clinical and Biological Sciences, School of Specialization of Clinical Pathology, University of Turin, Turin, Italy
,
Davide Montin
4   Department of Public Health and Pediatrics, University of Turin, Pediatria Specialistica U, “Regina Margherita” Children Hospital, Turin, Italy
,
Loredana Farinasso
4   Department of Public Health and Pediatrics, University of Turin, Pediatria Specialistica U, “Regina Margherita” Children Hospital, Turin, Italy
,
Michele Cioffi
1   Department of Clinical and Biological Sciences, Center of Research of Immunopathology and Rare Diseases-Coordinating Center of Piemonte and Aosta Valley Network for Rare Diseases, University of Turin, S. Giovanni Bosco Hospital, Turin, Italy
,
Silvia Grazietta Foddai
1   Department of Clinical and Biological Sciences, Center of Research of Immunopathology and Rare Diseases-Coordinating Center of Piemonte and Aosta Valley Network for Rare Diseases, University of Turin, S. Giovanni Bosco Hospital, Turin, Italy
,
Alice Barinotti
1   Department of Clinical and Biological Sciences, Center of Research of Immunopathology and Rare Diseases-Coordinating Center of Piemonte and Aosta Valley Network for Rare Diseases, University of Turin, S. Giovanni Bosco Hospital, Turin, Italy
,
Elisa Menegatti
3   Department of Clinical and Biological Sciences, School of Specialization of Clinical Pathology, University of Turin, Turin, Italy
,
Simone Baldovino
1   Department of Clinical and Biological Sciences, Center of Research of Immunopathology and Rare Diseases-Coordinating Center of Piemonte and Aosta Valley Network for Rare Diseases, University of Turin, S. Giovanni Bosco Hospital, Turin, Italy
2   Nephrology and Dialysis, Department of Clinical and Biological Sciences, S. Giovanni Bosco Hospital and University of Turin, Italy
3   Department of Clinical and Biological Sciences, School of Specialization of Clinical Pathology, University of Turin, Turin, Italy
,
Savino Sciascia   *
1   Department of Clinical and Biological Sciences, Center of Research of Immunopathology and Rare Diseases-Coordinating Center of Piemonte and Aosta Valley Network for Rare Diseases, University of Turin, S. Giovanni Bosco Hospital, Turin, Italy
2   Nephrology and Dialysis, Department of Clinical and Biological Sciences, S. Giovanni Bosco Hospital and University of Turin, Italy
,
Dario Roccatello   *
1   Department of Clinical and Biological Sciences, Center of Research of Immunopathology and Rare Diseases-Coordinating Center of Piemonte and Aosta Valley Network for Rare Diseases, University of Turin, S. Giovanni Bosco Hospital, Turin, Italy
2   Nephrology and Dialysis, Department of Clinical and Biological Sciences, S. Giovanni Bosco Hospital and University of Turin, Italy
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Abstract

We aimed to investigate the epidemiology, the clinical and laboratory characteristics of the pediatric involvement of antiphospholipid syndrome (APS), by performing a review of the current evidence and reviewing local experience in the Northwest Italy. To achieve this, we performed a detailed literature search to identify articles describing clinical and laboratory characteristics of pediatric APS. In concomitance, we conducted a registry-based study collecting data from the Piedmont and Aosta Valley Rare Disease Registry including pediatric patients diagnosed with APS in the last 11 years. The literature review led to inclusion of six articles with a total of 386 pediatric patients (65% females, 50% with systemic lupus erythematosus (SLE) as concomitant diagnosis). Rates of venous and arterial thrombosis were 57 and 35%, respectively. “Extra-criteria manifestations” included mostly hematologic and neurologic involvement. Almost one-quarter of patients (19%) reported recurrent events and 13% manifested as catastrophic APS. A total of 17 pediatric patients (mean age 15.1 ± 2.8, 76% female) developed APS in the Northwest of Italy. In 29% of cases, SLE was a concomitant diagnosis. Deep vein thrombosis was the most frequent manifestation (28%) followed by catastrophic APS (6%). The estimated prevalence of pediatric APS in Piedmont and Aosta Valley Region is 2.5/100,000 people, whereas the estimated annual incidence is 0.2/100,000 inhabitants. In conclusion, clinical manifestations of pediatric APS seem to be more severe and with a high prevalence of noncriteria manifestations. International efforts are needed to better characterize this condition and to develop new specific diagnostic criteria to avoid missed/delayed diagnosis in children with APS.

Keywords

pediatric antiphospholipid syndrome - epidemiology - review - antiphospholipid antibodies

Data Availability

Data will be available upon reasonable request.


* These authors equally contributed to the article.




Publication History

Article published online:
20 March 2023

© 2023. Thieme. All rights reserved.

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