Table 1.
Characteristics of patients with protein C (PC) deficiency. Mutations were given coordinates according to the HUGO recommendations for mutation nomenclature (http://www.hgvs.org, accessed on 1 March 2022). Abbreviations: DVT denotes deep vein thrombosis; F, female; M, male; N/A, not applicable; N/D, not definable; PE, Pulmonary embolism; SVT, superficial vein thrombosis; VTE, venous thromboembolism. *: this is the marking of the terminal mutation.
| Patient ID | Sex/Age | PC Activity % (Chromogenic Assay) | PC Activity % (Clot-Based Assay) | Total PC % | Type of PC Deficiency | Type of Mutation in PROC Gene | Exon Number | New/Reported | Clinical Manifestation | Age of First Thromboembolic Event | Number of VTE Events | Unprovoked/Provoked | Family History of VTE | Duration (Months) | Thrombo Embolic Events | Antithrombotic Treatment |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F/56 | 45 | 34 | N/D | I | c.401-1G>A | Intron 5 | New | Hepatic artery aneurysm | 51 | N/A | N/A | 1 | 54 | 0 | ASA (75 mg/day) |
| 2 | M/54 | 65 | 56 | 118 | II | c.759C>A, p.His253Gln | Exon 8 | Reported | DVT | 50 | 1 | 0/long journey | 0 | 57 | 0 | Dabigatran (150 mg bid) |
| 3 | F/44 | 56 | N/D | N/D | II | c.759C>A, p.His253Gln | Exon 8 | Reported | DVT | 37 | 1 | 1/0 | 0 | 84 | 0 | Sulodexid (2 × 250 SLU) |
| 4 | F/35 | 68 | 64 | 139 | IIa | c.759C>A, p.His253Gln | Exon 8 | Reported | DVT-cesarean section complicated with hemorrhage | 33 | 1 | 0/pregnancy | 1 | 7 | 0 | Dabigatran (150 mg bid) |
| 5 | M/52 | 68 | 59 | 54 | II | c.759C>A, p.His253Gln | Exon 8 | Reported | DVT | 47 | 2 | 1/0 | 0 | 18 | 0 | Rivaroxaban (15 mg/day) |
| 6 | M/63 | 58 | 45 | 113 | II | c.759C>A; p.His253Gln | Exon 8 | Reported | DVT+PE | 62 | 1 | 0/long journey | 1 | 5 | 0 | Rivaroxaban (20 mg/day) |
| 7 | F/64 | 67 | 57 | 46 | I | c.400+2T>C | Intron 5 | Reported | Ischemic stroke | 59 | 0 | 1/0 | 1 | 54 | 0 | Clopidogrel (75 mg/day) |
| 8 | F/39 | 72 | 50 | N/D | N/A | c.1042C>T, p.Arg348 * | Exon 9 | Reported | Asymptomatic | N/A | N/A | N/A | 1 | 36 | 0 | none |
| 9 | M/22 | 47 | 39 | 53 | I | c.316T>C, p.Cys106Arg | Exon 5 | Reported | DVT | 20 | 1 | 1/0 | 0 | 13 | 0 | Dabigatran (150 mg bid) |
| 10 | F/48 | 46 | 34 | 35 | I | c.316T>C, p.Cys106Arg | Exon 5 | Reported | DVT+PE | 45 | 1 | 0/surgery | 0 | 31 | 0 | Apixaban (2.5 mg bid) |
| 11 | F/32 | 59 | 37 | 103 | II | c.595C>T, p.Arg199 * | Exon 7 | Reported | DVT+PE | 30 | 1 | 0/oral contraceptives | 0 | 26 | 0 | Rivaroxaban (20 mg/day) |
| 12 | F/26 | 52; 56 | 50 | 54 | I | c.962C>T, p.Pro321Leu | Exon 9 | Reported | VTE | 25 | 1 | 0/oral contraceptives | 1 | 12 | 0 | Apixaban (5 mg bid) |
| 13 | F/43 | 68 | 52 | 66.9 | I | c.1174G>A p.Gly392Arg | Exon 9 | Reported | PE | 42 | 1 | 0/oral contraceptives | 1 | 6 | 0 | Apixaban (2.5 mg bid) |
| 14 | M/37 | 56 | 46 | 69.8 | I | c.632G>A p.Arg211Gln | Exon 7 | Reported | SVT | 36 | 1 | 1/0 | 0 | 6 | 0 | Rivaroxaban (20 mg/day) |