What is the prevalence of protein S deficiency in the US?

Updated: Jan 03, 2021
  • Author: Mohammad Muhsin Chisti, MD, FACP; Chief Editor: Perumal Thiagarajan, MD  more...
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Answer

Protein S deficiency is rare in the healthy population without VTE. In a study of 3788 healthy blood donors, the prevalence of famililial protein S deficiency was 0.03 to 0.13%. [11]  When a selected group of patients with recurrent thrombosis or family history of thrombosis is analyzed, the frequency of protein S deficiency increases to 3-5%. [12, 13]

Studies evaluating the clinical significance of free protein S levels associated with risk of VTE suggest using a lower cutoff of protein S levels for the diagnosis, which would in turn affect the prevalance of the disease. [14]  The Multi Environmental and Genetic Assessment Study (MEGA) case control study used protein S levels of less than 2.5th percentile of controls to identify protein S deficiency; however, risk of unprovoked VTE was limited to patients with free protein S levels of less than 0.10th percentile (< 33 U/dL). The prevalence of patients in this subgroup was 0.4%. [15]


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