Wednesday, 25 September 2019

Protein S deficiency Inherited D) ::Antithrombin Deficiency & Anti thrombin Deficiency

Protein S deficency :Three subtypes are found : Type 1: Characterized by reduced total and free immunoreactive protein levels and activity. Type II. Characterized by normal total and free immunoreactive protein S levels but reduced activity Type III: Normal total immunoreactive levels but reduced free immunoreactive levels and activity because of increased binding to the C4b-BP carrier protein . Although the currently used free proteins assay is more robust than is predecessors it still is a vulnerable test. To diagnose a woman with protein S deficiency 2 separate measurements outside pregnancy are require. Free protein S shows a marked physiological aPC resistance. Protein S should not be measured during pregnancy.
Inherited  D)  ::Antithrombin Deficincy
It can result from a myriad of possible mutations and is rarest and most thrombogenic of the inherited thrombophilias. There are two primary types:Type 1: Characterized by reductions in both circulating immunoreactive protein levels and activity
Type II: Characterized by normal immunoreactive protein levels but decreased activity.
In uncomplicated pregnancy anti thrombin activity levels show no change or a marginal decrease. Decreased anti thrombin activity levels have been demonstrated in women with pre-eclampsia and DIC.: Incidence àThe prevalence of PC deficiency is 0.3% . The prevalence of PS deficiency is 0.1%,
The prevalence of anti thrombin deficiency is low .Associated Risks ,Protein C and Protein S ,. Venous thrombo embolism
.Increased risk of stillbirth ,. Fetal loss ,. Increased rates of pre-eclampsia , abruption and IUGR
Anti thrombin Deficiency
. Early fetal loss
. Rarely stillbirth severe pre- eclampsia. IUGR or abruption
. Women with anti thrombin deficiency are at a particularly high-risk of thromboembolic complication. At deficiency is the only Thrombophilia that ‘always’ will require thrombo prophylaxis during pregnancy and postpartum.
All of these are inherited in an autosomal dominant pattern meaning that an affected person needs to inherit the gene from only one parent . Each child of an affected parent has a 50 percent chance of inheriting the Thrombophilia

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