Abstract:Severe protein C (PC) deficiency leads to purpura fulminans and stroke in newborns. However, the clinical impact of plasma PC activity on the development of neonatal cerebral disease remains elusive. We report a case of hemorrhagic stroke associated with neonatal asphyxia and severe PC deficiency. Plasma PC and protein S activity 7 days after birth was 12% and 43%, respectively. No
PROC
mutation was found. PC levels did not exceed 20% until 2 months of age, even in the absence of consumption coagulopathy or vi… Show more
“…After explaining the risks and benefits to the patient and his/her parents, genetic testing should be performed at the time they desire. It has also been reported that some infants without PROC variants have lower PC activity than the RR and suffer from thrombosis 24 . In these infants, PC activity often increases slowly to the RR for their age until around 1 year of age.…”
Section: Discussionmentioning
confidence: 97%
“…It has also been reported that some infants without PROC variants have lower PC activity than the RR and suffer from thrombosis. 24 In these infants, PC activity often increases slowly to the RR for their age until around 1 year of age. For these patients, the PC/PS activity ratio may provide a basis for suspecting PROC variants.…”
ObjectivesTo determine the optimal management for early‐onset thrombophilia (EOT), the genetic and clinical features of protein C (PC)‐, protein S (PS)‐, or antithrombin (AT)‐deficient patients of ≤20 years of age were studied in Japan.Methods/resultsClinical and genetic information of all genetically diagnosed cases was collected through the prospective, retrospective study, and literature review. One‐hundred‐one patients had PC (n = 55), PS (n = 29), or AT deficiency (n = 18). One overlapping case had PC‐ and PS‐monoallelic variant. Fifty‐five PC‐deficient patients (54%) had 26 monoallelic or 29 biallelic variant(s), and 29 (29%) PS‐deficient patients had 20 monoallelic or nine biallelic variant(s). None of the patients had AT‐biallelic variants. The frequent low‐risk allele p.K193del (PC‐Tottori) was found in five patients with monoallelic (19%) but not 29 with biallelic variant(s). The most common low‐risk allele p.K196E (PS‐Tokushima) was found in five with monoallelic (25%) and six with biallelic variant(s) (67%). One exceptional de novo PC variant was found in 32 families with EOT. Only five parents had a history of thromboembolism. Thrombosis concurrently developed in three mother–newborn pairs (two PC deficiency and one AT deficiency). The prospective cohort revealed the outcomes of 35 patients: three deaths with PC deficiency and 20 complication‐free survivors. Neurological complications were more frequently found in patients with PC‐biallelic variants than those with PC‐, PS‐, or AT‐monoallelic variants (73% vs. 24%, p = .019).ConclusionsWe demonstrate the need for elective screening for EOT targeting PC deficiency in Japan. Early prenatal diagnosis of PC deficiency in mother–infant pairs may prevent perinatal thrombosis in them.
“…After explaining the risks and benefits to the patient and his/her parents, genetic testing should be performed at the time they desire. It has also been reported that some infants without PROC variants have lower PC activity than the RR and suffer from thrombosis 24 . In these infants, PC activity often increases slowly to the RR for their age until around 1 year of age.…”
Section: Discussionmentioning
confidence: 97%
“…It has also been reported that some infants without PROC variants have lower PC activity than the RR and suffer from thrombosis. 24 In these infants, PC activity often increases slowly to the RR for their age until around 1 year of age. For these patients, the PC/PS activity ratio may provide a basis for suspecting PROC variants.…”
ObjectivesTo determine the optimal management for early‐onset thrombophilia (EOT), the genetic and clinical features of protein C (PC)‐, protein S (PS)‐, or antithrombin (AT)‐deficient patients of ≤20 years of age were studied in Japan.Methods/resultsClinical and genetic information of all genetically diagnosed cases was collected through the prospective, retrospective study, and literature review. One‐hundred‐one patients had PC (n = 55), PS (n = 29), or AT deficiency (n = 18). One overlapping case had PC‐ and PS‐monoallelic variant. Fifty‐five PC‐deficient patients (54%) had 26 monoallelic or 29 biallelic variant(s), and 29 (29%) PS‐deficient patients had 20 monoallelic or nine biallelic variant(s). None of the patients had AT‐biallelic variants. The frequent low‐risk allele p.K193del (PC‐Tottori) was found in five patients with monoallelic (19%) but not 29 with biallelic variant(s). The most common low‐risk allele p.K196E (PS‐Tokushima) was found in five with monoallelic (25%) and six with biallelic variant(s) (67%). One exceptional de novo PC variant was found in 32 families with EOT. Only five parents had a history of thromboembolism. Thrombosis concurrently developed in three mother–newborn pairs (two PC deficiency and one AT deficiency). The prospective cohort revealed the outcomes of 35 patients: three deaths with PC deficiency and 20 complication‐free survivors. Neurological complications were more frequently found in patients with PC‐biallelic variants than those with PC‐, PS‐, or AT‐monoallelic variants (73% vs. 24%, p = .019).ConclusionsWe demonstrate the need for elective screening for EOT targeting PC deficiency in Japan. Early prenatal diagnosis of PC deficiency in mother–infant pairs may prevent perinatal thrombosis in them.
“…Ultimately, a large portion of survivors of neonatal ICH exhibit various degrees of cognitive dysfunctions requiring special education and care [19] , [20] . Therefore, accurate, early detection, classification, and diagnosis of ICH is essential for selection of optimal treatments and prognostication [21] , [22] , [23] . Fig.…”
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