Heterozygous type I plasminogen deficiency is associated with an increased risk for thrombosis: a statistical analysis in 20 kindreds

Sartori, Maria; Patrassi, G; Theodoridis, Panagiotis G.; Perin, A; Pietrogrande, F; Girolami, Antonio

doi:10.1097/00001721-199412000-00004

Cited by 36 publications

(25 citation statements)

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“…Heterozygous plasminogen deficiency also appears not to be a risk factor for thrombosis, 35,36 despite several reports to the contrary. [37][38][39][40] It remains a matter of speculation which mechanisms are involved in keeping the vasculature free of thrombosis even with virtually complete plasminogen deficiency. Experiments with plasminogen-deficient mice have shown a 10 percent rate of spontaneous clot lysis after eight hours, 41 suggesting the action of fibrinolytic proteases other than plasmin.…”

Section: Discussionmentioning

confidence: 99%

Therapy with a Purified Plasminogen Concentrate in an Infant with Ligneous Conjunctivitis and Homozygous Plasminogen Deficiency

Schött

Dempfle²,

Beck³

et al. 1998

N Engl J Med

145

114

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Section: Discussionmentioning

confidence: 99%

Therapy with a Purified Plasminogen Concentrate in an Infant with Ligneous Conjunctivitis and Homozygous Plasminogen Deficiency

Schött

Dempfle²,

Beck³

et al. 1998

N Engl J Med

145

114

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“…PLGD results in the development of woody pseudomembranes on mucosal surfaces. [8][9][10] PAI-1 downregulates fibrinolysis through inhibition of tissue-type plasminogen activator (tPA) and urokinase plasminogen activator (uPA). [2][3][4][5][6][7] There are two sub-types of PLGD: type 1 is a quantitative deficiency and type 2 a qualitative deficiency.…”

Section: Introductionmentioning

confidence: 99%

Thrombin and plasmin generation in patients with plasminogen or plasminogen activator inhibitor type 1 deficiency

et al. 2019

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Introduction Deficiencies of plasminogen and plasminogen activator inhibitor type 1 (PAI‐1) are rare disorders of fibrinolysis. Current laboratory assays for analysis of activity of plasminogen and PAI‐1 do not provide an accurate correlation with clinical phenotype. Methods The Nijmegen Hemostasis Assay (NHA) was used to simultaneously measure thrombin and plasmin generation in 5 patients with plasminogen deficiency (PLGD) and 10 patients with complete PAI‐1 deficiency. Parameters analysed included: lag time ratio, thrombin peak time ratio, thrombin peak height, thrombin potential (AUC), fibrin lysis time, plasmin peak height and plasmin potential. Parameters were expressed as a percentage compared to a reference value of 53 healthy normal controls. Results Patients with PLGD demonstrated a short lag time and thrombin peak time, with normal thrombin peak height but an increased AUC. Plasmin generation was able to be detected in only one (23% plasminogen activity) of the five PLGD patients. All ten PAI‐1 deficient patients demonstrated a short lag and thrombin peak time, low thrombin peak height with normal AUC. Plasmin generation revealed an increased plasmin peak and plasmin potential; interestingly, there was a large variation between individual patients despite all patients having the same homozygous defect. Conclusion Patients with either PLGD or PAI‐1 deficiency show distinct abnormalities in plasmin and thrombin generation in the NHA. The differences observed in the propagation phase of thrombin generation may be explained by plasmin generation. These results suggest that disorders of fibrinolysis also influence coagulation and a global assay measuring both activities may better correlate with clinical outcome.

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“…The relationship between hypoplasminogenemia and thrombotic risk is a matter of debate (3)(4)(5)(6)(7). Coinheritance of hypoplasminogenemia and other thrombophilic disorders, such as protein C, protein S, and APC resistance defects, has been reported (8,(26)(27)(28)(29)(30)(31).…”

Section: Discussionmentioning

confidence: 99%

“…The observed prevalence of thrombosis in patients with hypoplasminogenemia is lower than that found in patients with congenital defects of clotting inhibitors (3). For this reason, the relationship between plasminogen defects and risk of thrombosis is still a matter of discussion (4)(5)(6)(7)(8).…”

mentioning

confidence: 99%

Familial Association of Hypoplasminogenemia and Heterozygous Factor V Deficiency

Sartori

Patrassi

Theodoridis

et al. 1999

Clin Appl Thromb Hemost

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The coinheritance of hypoplasminogenemia and heterozygous factor V deficiency in a relative with thrombotic disease and no hemorrhagic tendency is described. The proposita, a 28-year-old woman, suffered from neurologic disturbances due to two ischemic cerebral lesions confirmed by nuclear magnetic resonance scan. She was found to be affected with heterozygous plasminogen deficiency in a coagulation study for inherited thrombophilia. Moreover, she disclosed a prolongation of prothrombin time and activated partial thromboplastin time, which was compatible with heterozygous factor V deficiency. Her father, with a history of deep vein thrombosis, was also affected with plasminogen deficiency, as well as three brothers and one sister who were asymptomatic. The mother of the proposita showed borderline or slightly decreased factor V levels and normal plasminogen levels; she was therefore considered to be heterozygous for factor V deficiency. Heterozygous factor V deficiency was also found in one brother and one sister of the proposita, and they were both asymptomatic. Among the other available family members, one brother and one sister of the proposita, all asymptomatic for either thrombotic or bleeding events, showed a normal clotting and fibrinolytic profile. To our knowledge, this is the first case of combined heterozygous plasminogen and factor V deficiency in the same family. Two of six patients with hypoplasminogenemia showed thrombotic events, and in one of these symptomatic cases the coexistence of factor V deficiency did not prevent the occurrence of thrombosis. As expected, no hemorrhagic tendency was observed in patients with heterozygous factor V deficiency, who may be mildly symptomatic only in 10% of cases.

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Heterozygous type I plasminogen deficiency is associated with an increased risk for thrombosis: a statistical analysis in 20 kindreds

Cited by 36 publications

References 0 publications

Therapy with a Purified Plasminogen Concentrate in an Infant with Ligneous Conjunctivitis and Homozygous Plasminogen Deficiency

Therapy with a Purified Plasminogen Concentrate in an Infant with Ligneous Conjunctivitis and Homozygous Plasminogen Deficiency

Thrombin and plasmin generation in patients with plasminogen or plasminogen activator inhibitor type 1 deficiency

Familial Association of Hypoplasminogenemia and Heterozygous Factor V Deficiency

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