Catastrophic antiphospholipid syndrome: first signs in the neonatal period

Abstract

The term "catastrophic" antiphospholipid syndrome (CAPS) is used to define a subset of the antiphospholipid syndrome (APS) characterized by the clinical evidence of three or more organ involvement by thrombotic events in a short period of time and with laboratory confirmation of the presence of antiphospholipid antibodies. We describe a male infant first admitted at 17 days old for necrotizing enteritis complicated by cardiac and renal failure. Because of progressive renal function deterioration, a renal biopsy was performed at 8 months old, and histopathologic examination was compatible with renal venous thrombosis. Laboratory searching for vascular, prothrombotic, and metabolic disease was negative. Five months later, he developed two different episodes (20-day range) of ischemic stroke. Genetic test for thrombophilic conditions was positive for two different mutations, and repeatedly high titers of lupus anticoagulant, anticardiolipin, and anti-β2glicoprotein I antibodies were found. He was treated successfully with anticoagulants and showed a favorable clinical evolution. To the best of our knowledge, this is the youngest patient reported with probable CAPS. Although rare, APS/CAPS in the neonatal period or in the first year of life must be suspected in infants presenting with thrombotic phenomena. The present case illustrates the importance of an early diagnosis and treatment to enhance possibilities of survival.

Case Report: Infantile Ischemic Stroke and Antiphospholipid Antibodies, Description of Four Cases

“…At the present time, it is still unclear whether outcomes for de novo and transmitted neonatal APS are different, and whether the de novo APS may precede other autoimmune diseases, such as systemic lupus erythematosus (26)(27)(28)(29)(30)(31)(32)(33)(34).…”

Clinical, Laboratory, and Therapeutic Analyses of 21 Patients with Neonatal Thrombosis and Antiphospholipid Antibodies: A Literature Review

“…Deficiencies in proteins C and S and mutations in the coagulation factors appear to be associated with thrombotic events in newborns, thus reflecting an imbalance between the coagulants and anticoagulant activity [16–18, 22]. …”

“…Gene mutations were observed in 4 cases [16–18, 22]. Hereditary prothrombotic conditions were routinely investigated in previous studies of neonatal APS, particularly mutations in the methylenetetrahydrofolate reductase C677T and prothrombin G20210A genes that could explain the low prevalence of these prothrombotic factors in most reported cases [16].…”

“APS pregnancy – The offspring”

“…In the world literature, there are few descriptions of CAPS in newborns. 46,47 It can be assumed that there are more such cases, because newborns with urgent conditions and multiple thrombosis are not always tested for aPL.…”