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PubMed1992

Recurrent, isolated factor X deficiency in myeloma: repeated normalization of factor X levels after cytostatic chemotherapy followed by late treatment failure associated with the development of systemic amyloidosis.

We describe the case of a 64-year-old woman with isolated severe factor X deficiency associated with kappa light chain myeloma. At the time of diagnosis there was no evidence for amyloidosis. Complete remission (CR) of myeloma as well as normalization of factor X levels were achieved after cytostatic chemotherapy. Subsequently, factor X deficiency recurred twice without any evidence for relapse of myeloma. The first time factor X normalized again following cytostatic treatment, the second time, however, factor X deficiency was refractory to chemotherapy. Finally, relapse of myeloma became evident associated with rapidly progressing, systemic amyloidosis, which was fatal within a few months. Initially, factor X infusion studies showed a normal recovery, but when amyloidosis became overt the recovery decreased to 0%. We assume that factor X deficiency was due to a binding of factor X to kappa light chains associated with the proliferation of the malignant myeloma cell clone.

Amyloidosis↗
PubMed1995

A functional factor X deficiency.

A functional factor X deficiency is described which caused pronounced reduction in the in vitro activation of the extrinsic system while marginally affecting the in vitro activation of the intrinsic pathway. All studies were normal with the exception of a prolonged PT, an elevated factor X antigen, and low factor X activity. Western blot analysis revealed the presence of two factor X species. The abnormal molecule was of higher molecular weight. Interestingly, there was no bleeding associated with this deficiency. The biochemical basis of this defect is currently under investigation.

Adult↗
PubMed1997

Factor X deficiency in a cat.

Severe congenital deficiency of factor X was diagnosed in a 3-year-old castrated male domestic shorthair cat with clinical signs of generalized seizures and prolonged bleeding after venipuncture. Heritability of factor X deficiency was suspected because of a prolonged Russell's viper venom time in the dam and reductions in factor X activity in the dam and 1 sibling. To our knowledge, factor X deficiency in cats has not been reported previously. Definitive diagnosis for animals with clinical signs of coagulopathy may require repetition of coagulation screening tests using different assay methods or specific coagulation factor analyses.

Animals↗
PubMedDate not supplied

Factor X deficiency in North Pakistan.

BACKGROUND: Factor X deficiency is one of the most rare hereditary coagulation disorders. In populations where rate of consanguineous marriages is high, rare hereditary disorders also flourish. Pakistan is one of those countries. The study was conducted to estimate the incidence of factor X deficiency in patients with bleeding disorders in North Pakistan. METHODS: The records of the patients referred to Armed Forces Institute of Pathology for investigations of a suspected bleeding disorder were reviewed from 1st January 1997 to 30th June 2002. All patients referred for the investigations of a suspected bleeding disorder were included in the study. All patients underwent clinical interview and examination at the department. Factor X deficiency was diagnosed on the basis of prolonged prothrombin time and prolonged partial thromboplastin time with kaolin, which were corrected by addition of aged serum but not with adsorbed plasma. Factor X assays were carried out where possible. RESULTS: Only 24 patients of factor X deficiency were detected in 571 patients presenting with coagulation disorder. In 4 cases deficiency was thought to be secondary history, clinical findings and lab results. Inherited deficiency of factor X was thus detected in only 20/571 (3.5%) of the patients. Family history was positive in 8/20 (40%) patients. Consanguinity was noted in 12/20 (60%) patients. Median age of patients was 3 years. Male and females were in equal numbers. Most common clinical presentations were prolonged bleeding after trauma and mucosal bleeding seen in 80% and 70% of patients respectively. In patients in whom factor X assay was performed only one had <1% levels. CONCLUSION: Factor X deficiency although rare in American and European populations is not that rare in this part of the world. Its existence should be kept in mind in patients presenting with mucosal bleeding and prolonged PT and PTTK but normal platelet count and TT. The mutations in factor X, in this part of the world are most probably not the one, which would cause a severe bleeding diathesis.

Adolescent↗
PubMed1993

Factor X deficiency in a Jack Russell terrier.

Deficiency in factor X (Stuart-Prower factor) was identified in a 7-month-old spayed female Jack Russell Terrier following recurrent bleeding episodes. Various relatives were screened for factor X deficiency and low and subnormal levels were identified in the father and paternal grandmother, respectively. Factor X deficiency has been previously documented in a family of American Cocker Spaniels, in which the inheritance pattern appeared to be an autosomal dominant trait with variable expression. This is the first report describing this coagulopathy in the Jack Russell Terrier.

Journal Article↗
PubMed1981

Congenital factor X deficiency in Japan.

Congenital factor X deficiency is a very rare inherited coagulation abnormality. There have been reported 43 cases of this disorder in the world and only 2 cases in Japan. Recently, we have hemostatically and immunologically examined as many as 3 cases of this rare disease, 18-year-old male, 11-year-old male and 6-year-old female. Hemostatic examinations revealed prolonged prothrombin time, partial thromboplastin time and decreased serum thromboplastic activity in these 3 cases. Stypven-cephalin clotting time was also abnormal. Factor X activities of our cases were low when assayed by either tissue thromboplastin and partial thromboplastin or by Stypven-cephalin mixture, which were 2.6, 1.5 and 4.5%, respectively. The half lives of infused factor X were 24, 38.6 and 56 hr, respectively, which are consistent with the data of other authors. Immunological assay of factor X (radioimmunoassay) showed 0.47 microgram/ml in the second case and 0.15 microgram/ml in the third case, from which our cases were considered to be classical factor X deficiency.

Adolescent↗
PubMed1994

Antibody-induced acute factor X deficiency: clinical manifestations and properties of the antibody.

A patient is described with serious bleeding due to a transient selective deficiency of factor X. Crossed immunoelectrophoresis of patient's plasma with anti-factor X antibody revealed an abnormal factor X arc suggestive of the presence of plasma factor X/anti-factor X immune complexes. A similar abnormal arc was obtained on adding the patient's IgG to normal plasma. Immunoblotting of factor X after reduced SDS-PAGE revealed that the patient's IgG bound to the light chain of intact factor X but not Gla-domainless factor X. The patient's IgG inhibited activation of factor X by VIIa/tissue factor (TF), by IXa/VIIIa/phospholipid complex, and by Russell's viper venom. The IgG failed to inhibit the proteolytic activity of factor Xa towards a chromogenic substrate. However, under reaction conditions of limited factor Xa availability, the IgG could be shown to impair hemostatic functions of factor Xa that require the participation of its light chain: activation of prothrombin by prothrombinase; activation of factor VII bound to TF; and inhibition of VIIa/TF activity by factor Xa/tissue factor pathway inhibitor complexes. A few earlier patients have been described with transient, selective factor X deficiency and serious bleeding, but in only one was evidence obtained of an antibody against factor X. It will be of interest to learn whether use of the techniques described in this report will permit the identification of immunoglobulin with similar binding and functional properties in future patients with this rare syndrome.

Aged↗
PubMed1984

Prolongation of thrombin and reptilase times in patients with amyloidosis and acquired factor X deficiency.

A patient with acquired factor X deficiency due to amyloidosis had a prolonged thrombin time. Investigation of this abnormality suggested that an inhibitor of thrombin was present. A review of the literature demonstrated that prolonged thrombin time or reptilase time was present in many of the patients with acquired factor X deficiency due to amyloidosis. We were unable to relate prolongation of the thrombin time or reptilase time to the severity of bleeding. We believe that determination of thrombin and reptilase times should be part of the coagulation profile in all patients with acquired factor X deficiency.

Aged↗
PubMed1994

[Congenital blood coagulation factor X deficiency. Successful result of the use prothrombin concentrated complex in the control of ++cesarean section hemorrhage in 2 pregnancies].

There is little experience in the prevention of the severe hemorrhagic diathesis of factor X coagulation factor deficiency, before surgical procedures. A female with congenital deficiency of factor X that received prothrombin complex concentrates that contained 1.000 IU of factor X (16.7 U/l Kg BW) immediately prior to a cesarean section in two occasions, is reported. Factor X concentration rose from 1 to 25% in the first occasion and from 10 to 63% in the second. In both episodes, factor X decreased in the first 24 h of the postoperative period and required new infusions of prothrombin complex concentrates. No episodes of abnormal bleeding were observed. It is concluded that the infusion of prothrombin complex concentrates prevents the hemorrhagic diathesis of factor X deficiency, despite its modest increase in plasma. A initial infusion of 1.000 UI of factor X (16-20 IU/Kg BW), followed by 500 IU (8-10 IU/Kg) every 24 hours is suggested for an adequate management of this condition.

Adult↗
PubMedDate not supplied

Neonatal congenital Factor X deficiency.

Four neonates with congenital Factor X deficiency presented soon after birth with bleeding episodes. Two of the newborns had intracranial hemorrhages; one of them also had antenatal ventricular dilatation and postnatal hydrocephalus and died of massive intracerebral hemorrhage at four months. One patient was lost for follow up. The two surviving infants were followed up for four years and two years respectively, while on replacement therapy with three injections of 40 units/kg prothrombin complex a month. In spite of markedly elevated prothrombin time and partial thromboplastin time, these two infants remain free of major bleeding manifestations except for troublesome petechiae and ecchymoses. A schedule for substitution therapy with Factor X is proposed for infants and children to prevent bleeding in severe Factor X deficiency.

Blood Coagulation Factors↗
PubMed1977

Acquired factor X deficiency and amyloidosis.

A selective acquired Factor X deficiency is an unusual occurrence. Six cases of an acquired Factor X deficiency in association with amyloidosis have been reported. This paper describes two additional cases, suggesting that this relationship may be more than coincidental. The mechanism by which amyloid may affect Factor X levels remains unknown, but suggestions include consumption, inactivation or decreased synthesis of Factor X. Factor II, VII, IX, and X concentrate transiently increased the Factor X level to normal in one of the patients. In an adult patient who has an isolated Factor X deficiency, amyloidosis should be actively sought.

Amyloidosis↗
PubMed2003

Two novel factor X gene mutations in a Chinese family with factor X deficiency.

We report a factor X (FX)-deficient Chinese family with two novel FX gene (F10) mutations. Two sibling probands had a bleeding tendency since childhood. Both had very low FX:C (<0.01 IU/ml) and FX:Ag (5-6%) levels and were heterozygous for two novel F10 mutations, a 2-bp GC deletion involving nucleotides 33 and 34, leading to premature chain termination at residue 45, and a T237-->C mutation, leading to Phe71-->Ser. A family study confirmed that the mother had the 2-bp GC deletion and a type I FX deficiency. The father had the Phe71-->Ser mutation. Interestingly, a type I FX deficiency was also observed, suggesting that Phe71-->Ser, occurring at a site sandwiched between two Gla residues, might perturb FX protein stability.

Adult↗
PubMed2004

Factor X deficiency--a rare disorder.

Congenital factor X deficiency is a very rare inherited coagulation disorder. The clinical phenotype is of varying bleeding manifestations depending upon the level of factor activity. We describe a one and a half year old patient with severe deficiency (factor level less than 1%) who manifested with only easy bruisability and epistaxis that does not correlate with level of deficiency.

Blood Coagulation Tests↗
PubMed1991

A case of acquired factor X deficiency with in vivo and in vitro evidence of inhibitor activity directed against factor X.

A 67-year-old woman had symptoms of an upper respiratory tract infection for which she received a five-day course of erythromycin. Epistaxis and gross hematuria subsequently developed, and the patient was found to have a selective Factor X deficiency. She received supportive therapy and prothrombin complex concentrates (Factors II, VII, IX, and X), with subsequent resolution of her transient Factor X deficiency. Her hospital course, however, was complicated by the development of multiple cerebral infarctions. This is the tenth reported case of transient Factor X deficiency not associated with amyloidosis. In seven of the previous cases, as in this patient, the deficiency was associated with a preceding upper respiratory infection. This is the only case, however, with evidence of inhibitory activity in the plasma that was directed toward Factor X.

Aged↗
PubMed2004

[Inherited coagulation factor X deficiency caused by two novel mutations in factor X gene].

OBJECTIVE: To explore the molecular mechanisms involved in a pedigree with inherited coagulation factor X (FX) deficiency. METHODS: The activated partial thromboplastin time (APTT), prothrombin time (PT), FX activity (FX:C) and FX antigen (FX:Ag) test were adopted for phenotype diagnosis. All the 8 exons, intron/exon boundaries and the 5'untranslated regions (UTR) of the FX gene were amplified by polymerase chain reaction (PCR) from the genomic DNA extracted from the peripheral blood of the propositus. The PCR products were screened by direct sequencing. The mutation was confirmed by allele specific PCR (ASPCR). RESULTS: The phenotype of the propositus was identified as FX deficiency (type II). Two novel FX gene mutations were detected in the propositus: one was a donor site splice mutation in intron 1 (IVS1 + 1G-->A), another was a missense mutation 1185G-->A in exon 8 (Arg347His). CONCLUSION: The FX deficiency of the propositus is caused by double heterozygous mutations IVS1 + 1G-->A and Arg347His.

Antigens↗
PubMed2001

[Clotting factor X deficiency resulted from an T 58-->G mutation within exon 1 of human factor X gene].

OBJECTIVE: To identify the genetic defect of a patient with clotting factor X deficiency (QGZ). METHODS: PCR and DNA sequencing were used to screen mutation in factor X gene. PCR primers were designed covering all the coding regions for exon and flanking intron sequences. RESULT: A single nucleotide substitution T 58G in exon 1, which caused a missense mutation Ser(AGT) 11 Arg(AGG) in signal peptide, was identified by DNA sequencing. CONCLUSION: This nucleotide substitution might be the molecular etiology of factor X deficiency.

Base Sequence↗
PubMed2001

Acquired factor X deficiency in patients with amyloid light-chain amyloidosis: incidence, bleeding manifestations, and response to high-dose chemotherapy.

Acquired deficiency of factor X occurs in patients with systemic amyloid light-chain (AL) amyloidosis, presumably due to adsorption of factor X to amyloid fibrils. Of 368 consecutive patients with systemic AL amyloidosis evaluated at Boston Medical Center, 32 patients (8.7%) had factor X levels below 50% of normal. Eighteen of these patients (56%) had bleeding complications, which were more frequent and severe in the 12 patients below 25% of normal; 2 episodes were fatal. Ten factor X-deficient patients received high-dose melphalan chemotherapy followed by autologous stem cell transplantation. Of 7 patients alive 1 year after treatment, 4 had a complete hematologic response, and all 4 experienced improvement in their factor X levels. One of 2 additional patients with partial hematologic responses had improvement in factor X. Thus, aggressive treatment of the underlying plasma cell dyscrasia in AL amyloidosis can lead to the amelioration of amyloid-related factor X deficiency.

Amyloid↗