Protein S deficiency

Protein S deficiency
Protein S
Classification and external resources
Specialty hematology
ICD-10 D68.5
ICD-9-CM 289.81
OMIM 176880
DiseasesDB 10814
eMedicine med/1924
Patient UK Protein S deficiency
MeSH D018455

Protein S deficiency is a disorder associated with increased risk of venous thrombosis.[1]Protein S, a vitamin K-dependent physiological anticoagulant, acts as a nonenzymatic cofactor to activate protein C in the degradation of factor Va and factor VIIIa.[2] Decreased (antigen) levels or impaired function of protein S leads to decreased degradation of factor Va and factor VIIIa and an increased propensity to venous thrombosis. Protein S circulates in human plasma in two forms: approximately 60 percent is bound to complement component C4b β-chain while the remaining 40 percent is free, only free protein S has activated protein C cofactor activity

Types

There are three types of hereditary protein S deficiency:[3][4]

Signs/symptoms

Among the possible presentation of protein S deficiency are:[1][3][5]

Cause

Human Chr 3

In terms of the cause of protein S deficiency it can be in inherited via autosomal dominance.A mutation in the PROS1 gene triggers the condition. The cytogenetic location of the gene in question is chromosome 3, specifically 3q11.1[4][6] Protein S deficiency can also be acquired due to vitamin K deficiency, treatment with warfarin, liver disease, and acute thrombosis (antiphospholipid antibodies may also be a cause as well)[1]

Pathophysiology

In regards to the mechanism of protein S deficiency we should start by indicating that,Protein S is principally made in liver cells. Protein S is a cofactor of APC both work to degrade factor V and factor VIII.It has been suggested that Zn2+ might be necessary for Protein S binding to factor Xa.[3][7]

Mutations in this condition change amino acids, which in turn disrupts blood clotting. Functional protein S is lacking, which normally turns off clotting proteins, this increases risk of blood clots.[4]

Diagnosis

PTT blood tests Vacutainer tube

The diagnosis for deficiency of protein S can be done via reviewing family history of condition and genetic testing, as well as the following:[1][8][9]

Differential diagnosis

Among the possibilities for differential diagnosis of protein S deficiency are- Antiphospholipid syndrome, disseminated intravascular coagulation and antithrombin deficiency (though this list is not exhaustive)[3]

Treatment

Dabigatran

In terms of treatment for protein S deficiency the following are consistent with the management (and administration of) individuals with this condition ( it should be noted that the prognosis for inherited homozygotes is usually in line with a higher incidence of thrombosis for the affected individual[1]):[3][7]

References

  1. 1 2 3 4 5 "Protein S Deficiency. Learn about Protein S Deficiency | Patient". Patient. Retrieved 2016-10-16.
  2. ↑ "Protein S: Reference Range, Collection and Panels, Interpretation". 2016-06-01.
  3. 1 2 3 4 5 "Protein S Deficiency: Background, Pathophysiology, Epidemiology". 2016-05-02.
  4. 1 2 3 Reference, Genetics Home. "PROS1 gene". Genetics Home Reference. Retrieved 16 October 2016.
  5. ↑ "Congenital protein C or S deficiency: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 16 October 2016.
  6. ↑ Reference, Genetics Home. "protein S deficiency". Genetics Home Reference. Retrieved 16 October 2016.
  7. 1 2 Ten Kate, M. K.; Van Der Meer, J. (1 November 2008). "Protein S deficiency: a clinical perspective". Haemophilia. 14 (6): 1222–1228. doi:10.1111/j.1365-2516.2008.01775.x. ISSN 1365-2516. Retrieved 16 October 2016.
  8. ↑ "Protein S blood test: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 16 October 2016.
  9. ↑ "Protein S deficiency - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 16 October 2016.

Further reading

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