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A rare case of late diagnosis of antiphospholipid syndrome with onset in early childhood

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Background. Antiphospholipid syndrome is an autoimmune disease characterized by the presence of circulating antiphospholipid antibodies and thrombotic complications or pregnancy complications. Objective. The aim of the study was to demonstrate the difficulties of antiphospholipid syndrome diagnosing in children with non-criterial clinical manifestations, without signs of systemic connective tissue pathology at the onset, using a clinical case as an example, and to determine ways to overcome the problem in diagnosing such cases. Materials and methods. Analysis of the medical record of an inpatient f.003/u, clinical, functional research methods. An analysis of open literary sources on the scientific sites Cyber Leninka, eLibrary, PubMed, Lvrach.ru on the problem of antiphospholipid syndrome, its relationship with rheumatic diseases was conducted. The analysis included literature reviews, scientific articles, clinical studies. Results. The article describes a case of late diagnosis of reliable antiphospholipid syndrome in combination with chronic systemic lupus erythematosus with debut at the age of 1 year with the development of bilateral sensorineural hearing loss of grade 4 in chronological connection with a previous respiratory viral disease. Later, with the addition of focal alopecia with hair loss by the age of thirteen, detection of a false-positive Wasserman reaction, hematological syndrome, livedo reticularis, arthralgia, triple positivity for high-titer antiphospholipid antibodies. Immune markers of systemic lupus erythematosus were also detected in the diagnostic titer. A reliable diagnosis was established 40 years after the onset of the disease, due to the difficulty of diagnosis: non-criterial clinical manifestations of antiphospholipid syndrome. Clinical manifestations and immune markers indicated reliable primary antiphospholipid syndrome. Conclusion. Currently, efforts are being made to develop new criteria for the classification of APS, a relatively rare disease in pediatric practice, including criteria specific to pediatric patients.
Title: A rare case of late diagnosis of antiphospholipid syndrome with onset in early childhood
Description:
Background.
Antiphospholipid syndrome is an autoimmune disease characterized by the presence of circulating antiphospholipid antibodies and thrombotic complications or pregnancy complications.
Objective.
The aim of the study was to demonstrate the difficulties of antiphospholipid syndrome diagnosing in children with non-criterial clinical manifestations, without signs of systemic connective tissue pathology at the onset, using a clinical case as an example, and to determine ways to overcome the problem in diagnosing such cases.
Materials and methods.
Analysis of the medical record of an inpatient f.
003/u, clinical, functional research methods.
An analysis of open literary sources on the scientific sites Cyber Leninka, eLibrary, PubMed, Lvrach.
ru on the problem of antiphospholipid syndrome, its relationship with rheumatic diseases was conducted.
The analysis included literature reviews, scientific articles, clinical studies.
Results.
The article describes a case of late diagnosis of reliable antiphospholipid syndrome in combination with chronic systemic lupus erythematosus with debut at the age of 1 year with the development of bilateral sensorineural hearing loss of grade 4 in chronological connection with a previous respiratory viral disease.
Later, with the addition of focal alopecia with hair loss by the age of thirteen, detection of a false-positive Wasserman reaction, hematological syndrome, livedo reticularis, arthralgia, triple positivity for high-titer antiphospholipid antibodies.
Immune markers of systemic lupus erythematosus were also detected in the diagnostic titer.
A reliable diagnosis was established 40 years after the onset of the disease, due to the difficulty of diagnosis: non-criterial clinical manifestations of antiphospholipid syndrome.
Clinical manifestations and immune markers indicated reliable primary antiphospholipid syndrome.
Conclusion.
Currently, efforts are being made to develop new criteria for the classification of APS, a relatively rare disease in pediatric practice, including criteria specific to pediatric patients.

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