Pregledni rad
https://doi.org/10.26800/LV-145-supl1-1
Laboratory testing of thrombophilia in children
Irena Drmić Hofman
; Medicinski fakultet Sveučilišta u Splitu, Katedra za medicinsku kemiju i biokemiju, Split, Sveučilišni odjel zdravstvenih studija, Sveučilište u Splitu, Odsjek za medicinsko-laboratorijsku dijagnostiku, Split
Nina Kalajžić
; Sveučilišni odjel zdravstvenih studija, Sveučilište u Splitu, Odsjek za medicinsko-laboratorijsku dijagnostiku, Split
Sažetak
The term thrombophilia is commonly used to describe inherited and/or acquired conditions associated with an increased propensity for thrombosis and clinically refers to patients who develop spontaneous venous thromboembolism (VTE). VTE in childhood is a multifactorial disease, and one or more clinical risk factors are present in most children. In addition to acquired factors, such as the use of a central venous catheter, malignancies, severe infections and nephrotic syndrome and hereditary thrombophilic disorders may contribute to the development of VTE in newborns. Hereditary thrombophilia includes deficiency of antithrombin (AT), protein C (PC), protein S (PS) and mutations in the genes for factor V (FV G1691A, Leiden) and prothrombin (FII G20210A). Other thrombophilias, which are less well characterized and not necessarily genetically determined, include elevated levels of homocysteine, lipoprotein(a), dysfibrinogenemia, antiphospholipid syndrome, and increased levels of factors VIII, IX, and XI. According to the latest guidelines, newborns and children with purpura fulminans should be tested immediately for PC and PS deficiency, while screening for thrombophilia in children with stroke is not routinely recommended. In children with multiple unexplained thromboses, especially if they indicate catastrophic antiphospholipid syndrome, testing for antiphospholipid antibodies and hereditary thrombophilia should be considered. The pediatric patient groups most likely to benefit from thrombophilia testing are adolescents with spontaneous VTE, children/adolescents with a positive family history, teenage girls with a known positive family history who plan to take estrogen containing oral contraceptives. It is less useful to perform testing in newborns and children in whom the occurrence of VTE is associated with the use of a venous catheter. In conclusion, it can be said that testing for hereditary thrombophilia should be carried out with an individualized approach and only if the obtained results could affect the improvement or change of the course of treatment.
Ključne riječi
THROMBOPHILIA; VENOUS THROMBOEMBOLISM; CHILD; LABORATORY TESTING
Hrčak ID:
300288
URI
Datum izdavanja:
17.4.2023.
Posjeta: 781 *