Neonatal purpura fulminans associated with homozygous protein S deficiency

Mahasandana, Chularatana; Suvatte, Vinai; Marlar, RichardA.; Manco-Johnson, MarilynJ.; Jacobson, L J; Hathaway, W. E.

doi:10.1016/0140-6736(90)90201-f

Cited by 124 publications

(64 citation statements)

References 8 publications

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“…These figures may explain previous observations 15 that homozygosity for APCR gives a lower risk of thrombosis than homozygosity for PC and PS, which frequently causes severe neonatal thrombosis. 16,17 Also in our study, all 3 homozygous patients with PC deficiency were symptomatic, and 1 of them had deep vein thrombosis at birth; of the 11 homozygous patients with APCR, 6 were symptomatic and 5 were still asymptomatic (2 of them were Ͼ60 years old), despite their exposure to many risk factors. A higher risk for VTE in AT carriers than in subjects with PC and PS deficiency was also reported in previous studies, 18,19 as well as in a recent single-center prospective study but with a small number of cases.…”

Section: Discussionmentioning

confidence: 95%

Risk of Venous Thromboembolism and Clinical Manifestations in Carriers of Antithrombin, Protein C, Protein S Deficiency, or Activated Protein C Resistance

Bucciarelli

Rosendaal

Tripodi

et al. 1999

ATVB

150

105

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Abstract-Deficiencies of antithrombin (AT), protein C (PC) or protein S (PS), and activated protein C resistance (APCR) are very well-established coagulation defects predisposing to venous thromboembolism (VTE). We performed a retrospective cohort family study to assess the risk for VTE in individuals with AT, PC, or PS deficiency, or APCR. Five hundred thirteen relatives from 9 Italian centers were selected from 233 families in which the proband had had at least 1 episode of VTE. We calculated the incidence of VTE in the whole cohort and in the subgroups after stratification by age, sex, and defect. The overall incidence of VTE (per 100 patient-years) in the group of relatives was 0.52. It was 1.07 for AT, 0.54 for PC, 0.50 for PS, 0.30 for APCR, and 0.67 in the group with a double defect. The incidence was associated with age, but not with sex. The mean age at onset was between 30 and 40 years for all the coagulation defects. Women had the peak of incidence in the age range of 21 to 40 years, earlier than men. The lifetime risk for VTE was 4.4 for AT versus APCR, 2.6 for AT versus PS, 2.2 for AT versus PC, 1.9 for PC versus APCR, and 1.6 for PS versus APCR. AT deficiency seems to have a higher risk for VTE than the other genetic defects. There is a relation between age and occurrence of thrombosis for both men and women. The latter had the peak of incidence earlier than the former.

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Section: Discussionmentioning

confidence: 95%

Risk of Venous Thromboembolism and Clinical Manifestations in Carriers of Antithrombin, Protein C, Protein S Deficiency, or Activated Protein C Resistance

Bucciarelli

Rosendaal

Tripodi

et al. 1999

ATVB

150

105

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“…436,437 Plasma levels of protein C achieved with these doses of FFP vary from 15% to 32% at 30 min after the infusion and from 4% to 10% at 12 h. 426 Plasma levels of protein S (which is entirely bound to C4b) are 23% at 2 h and 14% at 24 h, with an approximate half-life of 36 h. 438,439 Doses of protein C concentrate have ranged from 20 to 60 units/kg. In one study, a dose of 60 units/kg resulted in peak protein C levels of .…”

Section: Dvt and Pe In Childrenmentioning

confidence: 99%

Antithrombotic Therapy in Neonates and Children

Monagle

Chan

Goldenberg

et al. 2012

Chest

1,235

559

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“…Homozygous and compound heterozygous PS deficiencies are rarely reported, 111,112 and both are usually associated with severe purpura fulminans in the neonatal period. 113 The prevalence of PS deficiency in the general population is uncertain, but is known to be low. 114 A study of 3788 Scottish blood donors found PS deficiency to have a prevalence of between 0.03% to 0.13%.…”

Section: Ps Deficiency: What Role For C4bp?mentioning

confidence: 99%