Hereditary Deficiencies of Antithrombin III, Protein S, and the Protein C Pathway in Jordanian Thrombosis Patients

Suhair S Eid

doi:10.29074/ascls.15.4.196

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Suhair S Eid, MSc⇑
1. is Chief Officer, Coagulation Laboratory, King Hussein Medical Center, Princess Eman Research Center for Laboratory Sciences, Amman, Jordan

Address for correspondence: Suhair S Eid, PO Box 143855, Amman 11844, Jordan. +962 6 5818531, +962 6 5662260 (fax). eide_8{at}hotmail.com

Extract

Hereditary thrombophilia is caused by various inherited disorders. Most lead to a familial tendency to recurrent venous, not arterial, thrombosis, usually at a young age, and with spontaneous onset. Most of the genetic defects known today affect the function of natural anticoagulant pathways, in particular, the protein C system.

In this study, 602 (265 female, 337 male) patients with suspected thrombosis, arterial or venous, were referred to King Hussein Medical Center in Amman, Jordan. The prevalence of hereditary deficiencies of antithrombin (AT), protein S (PS), and protein C (PC) were studied over a seven-year period (1993–2000). Activated protein C (APC-R) resistance subjects were studied over four years (1996–2000). The mean age was 30 years in females and 42 years in males. A diagnosis was established in 22.4% (n = 135) of the subjects (20.3% venous, 2.1% arterial). Protein C deficiency was found in 3.8%, protein S deficiency in 2.3% and antithrombin deficiency in 1.4% of our sample group. An APC-R problem was seen in 23.0% (n = 89) of the surveyed population. Out of the APC-R patients, 75.0% had the DNA analysis of a factor V Leiden mutation present. Of the subjects found to have the mutation 87.0% were heterozygous and 13.0% were homozygous. These results confirm that APC-R, as a result of factor V Leiden mutation, is the most prevalent cause of thrombosis, and thrombophilia is related to venous, not arterial, thrombosis.

Thrombophilia is the tendency toward recurrent venous thromboembolism usually occurring in young age. In recent years, important…

ABBREVIATIONS: APC-R = activated protein C resistance; ASPCR = allele specific polymerase chain reaction; AT = antithrombin; CVA = cerebral vascular accident; DVT = deep vein thrombosis; FVL = factor V Lieden; N-APC-R = normalized activated protein C ratio; PC = protein C; PCR = polymerase chain reaction; PE = pulmonary embolism; PS = protein S.