Fletcher Factor Deficiency With Mildly Prolonged Activated PTT

Saade, Marie-Béatrice

doi:10.1097/00007611-198007000-00049

Cited by 6 publications

(3 citation statements)

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“…We identified 67 studies reporting a total of 108 cases diagnosed with severe PK deficiency from 86 families 1,11,13,15‐79 . The process of study selection is summarized in Figure 1; the reasons for study exclusion are detailed in Tables S1‐S2.…”

Section: Resultsmentioning

confidence: 99%

Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence

Sollfrank

Trinchero

Adenaeuer

et al. 2020

Journal of Thrombosis and Haemostasis

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Background: Severe plasma prekallikrein (PK) deficiency is an autosomal-recessive defect characterized by isolated activated partial thromboplastin time prolongation. To date, no comprehensive methodologically firm analysis has investigated the diagnostic, clinical, and genetic characteristics of PK deficiency, and its prevalence remains unknown.Patients/Methods: We described new families with PK deficiency, retrieved clinical and laboratory information of cases systematically searched in the (gray) literature, and collected blood of these cases for complementary analyses. The Genome Aggregation Database (gnomAD) and the population-based Gutenberg Health Study served to study the prevalence of mutations and relevant genetic variants. Results:We assembled a cohort of 111 cases from 89 families and performed new genetic analyses in eight families (three unpublished). We identified new KLKB1 mutations, excluded the pathogenicity of some of the previously described ones, and estimated a prevalence of severe PK deficiency of 1/155 668 overall and 1/4725 among Africans. One individual reported with PK deficiency had, in fact, congenital kininogen deficiency associated with decreased PK activity. One quarter of individuals had factor XII clotting activity below the reference range. Four major bleeding events were described in 96 individuals, of which 3 were provoked, for a prevalence of 4% and an annualized rate of 0.1%. The prevalence of cardiovascular events was 15% (6% <40 years; 21% 40-65 years; 33% >65 years) for an annualized rate of 0.4%. Conclusions:We characterized the genetic background of severe PK deficiency, critically appraised mutations, and provided prevalence estimates. Our data onThis is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. | 1599BARCO et Al.

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Section: Resultsmentioning

confidence: 99%

Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence

Sollfrank

Trinchero

Adenaeuer

et al. 2020

Journal of Thrombosis and Haemostasis

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“…At least 16 kindreds with severe PK deficiency (less than 1 % of normal pooled plasma) have been reported. 7,25,29,30,42,44,51,89,92,104,121,125,133 The defect appears to be inherited as an autosomal recessive trait. The plasma of the homozygotes contained less than 1% PK coagulant activity and showed a greatly prolonged APTT.…”

Section: Prekallikrein (Fletcher Factor) Deficiencymentioning

confidence: 99%

Contact Factors in Health and Disease

Saito¹

1987

Semin Thromb Hemost

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“…Fourteen of these (15 patients) dealt with African Americans. 7 –20 The remaining papers dealt with Caucasians or with patients with an unspecified ethnic group.…”

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confidence: 99%