Primary antiphospholipid syndrome in childhood (individual observation)

Abstract

Antiphospholipid syndrome (APS) in children is a rare but potentially lethal condition that can debut in the form of a catastrophic course (catastrophic antiphospholipid syndrome, CAPS), characterized by rapid progression of multiple thromboses and multi-organ involvment. This disease can be the first manifestation of APS, which making early diagnosis difficult.

Aim - to provide information on the clinical manifestations and course of primary antiphospholipid syndrome in childhood.

Clinical case. The clinical course and the results of additional examinations of a 16-year-old girl who was hospitalized in critical condition with multiple organ dysfunction were analyzed: cutaneous hemorrhagic syndrome, signs of central nervous system dysfunction (aphasia, nystagmus), deep vein thrombosis, pulmonary infiltrates, and oliguria. The first episode of the disease occurred in 2018, when, after the injury, inflammation of the soft tissues of the foot led to necrosis of the distal phalanges of the toes of the left foot and amputation. In 2023, acute ischemic cerebrovascular accident, severe hypermenorrhea and posthemorrhagic anemia, and acute thrombocytopenia were noted. The clinical diagnosis was: D68.8 - Primary antiphospholipid syndrome, catastrophic course. Complications: Deep vein thrombosis of the thigh, thrombosis/embolism of small branches of the pulmonary artery. Acute kidney injury, oliguric stage. History of ischemic stroke on 05/29/2023. Comorbidities: Excessive menstruation during puberty. Hypothalamic syndrome of puberty. Hypertensive disease (postthrombotic hypertensive syndrome). The first line of therapy was performed: nadroparin calcium and acetylsalicylic acid, pulse therapy with methylprednisolone, intravenous immunoglobulin (IVIG). Due to retrothrombosis, the second-line was initiated: cyclophosphamide and repeated infusion of IVIG [2]. Clinical stabilization was achieved, recanalization of thrombi. However, 2 months later, when attempting to switch anticoagulant therapy, the patient died from massive thromboembolism.

Conclusion. CAPS requires a high index of suspicion for differential diagnosis and diagnosis, as many patients (up to 50%) have CAPS as the first manifestation of APS. The negative outlook for the further course in 65-80% of patients, frequent relapses within 3-6 months and high mortality emphasize the need to study such clinical cases.