Article

The rare coagulation disorders - review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

Haemophilia 10(5):593-628. pp.593-628

ABSTRACT M3: doi:10.1111/j.1365-2516.2004.00944.x

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    T Basturk, E Ahbap, B Eroglu Kesim, M Yılmaz, Y Koç, T Sakacı, A Unsal
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    ABSTRACT: Factor X (FX) deficiency is a rare hereditary coagulation disorder. This is the first case report on the association of FX deficiency and membranoproliferative glomerulonephritis (MPGN) type I. The patient, a 17-year-old male, presented with edema, hypertension, and microscopic hematuria, followed by a mild upper respiratory tract infection. Laboratory tests revealed: serum creatinine 1.6 mg/dl, serum albumin 2.80 g/dl, C3 16 mg/dl and proteinuria (1,800 mg/day). The renal biopsy showed MPGN type I. The coagulation profile prior to percutaneous renal biopsy revealed prolonged prothrombin time and activated partial thromboplastin time values. The patient was given fresh frozen plasma and vitamin K before the biopsy. Further evaluation showed the functional activity of FX was 7% of the norm. This case emphasizes the need for routine coagulation screening before percutaneous renal biopsy.
    International Urology and Nephrology 12/2011; 43(4):1237-41. · 1.47 Impact Factor
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    Article: A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.
    Jong Ho Lee, Hee Soon Cho, Myung Soo Hyun, Hwa-Young Kim, Hee-Jin Kim
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    ABSTRACT: Factor XI (FXI) deficiency is a rare autosomal recessive coagulation disorder most commonly found in Ashkenazi and Iraqi Jews, but it is also found in other ethnic groups. It is a trauma or surgery-related bleeding disorder, but spontaneous bleeding is rarely seen. The clinical manifestation of bleeding in FXI deficiency cases is variable and seems to poorly correlate with plasma FXI levels. The molecular pathology of FXI deficiency is mutation in the F11 gene on the chromosome band 4q35. We report a novel mutation of the F11 gene in an 18-year-old asymptomatic Korean woman with mild FXI deficiency. Pre-operative laboratory screen tests for lipoma on her back revealed slightly prolonged activated partial thromboplastin time (45.2 sec; reference range, 23.2-39.4 sec). Her FXI activity (35%) was slightly lower than the normal FXI activity (reference range, 50-150%). Direct sequence analysis of the F11 gene revealed a heterozygous A to G substitution in nucleotide 1517 (c.1517A>G) of exon 13, resulting in the substitution of aspartic acid with glycine in codon 506 (p.Asp506Gly). To the best of our knowledge, the Asp506Gly is a novel missense mutation, and this is the first genetically confirmed case of mild FXI deficiency in Korea.
    The Korean Journal of Laboratory Medicine 10/2011; 31(4):290-3. · 0.63 Impact Factor
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    Article: The use of desmopressin in congenital factor XI deficiency: a systematic review
    Massimo Franchini, Franco Manzato, Gian Luca Salvagno, Martina Montagnana, Giuseppe Lippi
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    ABSTRACT: Factor XI (FXI) deficiency is a rare inherited coagulation disorder characterized by infrequent spontaneous bleeding, but increased risk of hemorrhagic complications especially after trauma or surgery. Treatment options for FXI-deficient patients include virus-inactivated fresh frozen plasma, plasma-derived FXI concentrates, and activated recombinant FVII. Inhibitors of fibrinolysis, such as tranexamic acid, and desmopressin (DDAVP) have also been used in these patients, especially in mild cases. The current knowledge on the use of the latter agent in this congenital bleeding condition is systematically reviewed here. Although limited, the available literature data suggest the potential role of DDAVP for either treatment of bleeding episodes or the prevention of postoperative bleeding in patients with milder FXI defects. However, these findings need to be supported by further trials on large population of patients.
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P H B Bolton-Maggs