[Isolated familial factor X deficiency. (Demonstration of recessive hereditary factors)].
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Adolescent↗
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Inherited factor X deficiency in two brothers.
Two brothers born to same parents were diagnosed with inherited factor X deficiency of severe type. Clinical presentation in both the cases were haemarthrosis. The elder brother was diagnosed in the year 1991 when he was four and half years old. Recently the youngest child in the family also presented with haemarthrosis at age of one and half years. Diagnosis was made by abnormal results of Coagulation factors screening mainly Prothrombin time, Activated partial thromboplastin time, Russell's viper venom test, mixing tests factor X assay. Both the brothers had Factor X activity less than one percent.
Child, Preschool↗
Successful treatment of an acquired haemorrhagic diathesis due to factor X deficiency with chemotherapy.
A 70-yr-old woman presented with a severe haemorrhagic diathesis due to an acquired factor X deficiency. A plasma infusion study showed that exogenous factor X was eliminated very effectively from the patient's circulation. A bone marrow biopsy was consistent with plasma cell dyscrasia. Neither an abdominal fat biopsy nor the bone marrow biopsy confirmed an amyloidosis, although clinically no other diagnosis seemed possible. Treatment with intermittent chemotherapy, consisting of vincristine, cytoxan and prednisone, yielded definite clinical and laboratory improvement.
Aged↗
Homozygous factor X deficiency associated with familial hypercholesterolemia, mitral valve prolapse, and hypertrophic cardiomyopathy.
The family investigated showed the presence of multiple genetic disorders among their members. The presumable defective genes were related to coagulation factor X, familial hypercholesterolemia, mitral valve prolapse, and hypertrophic cardiomyopathy. The parents were offspring of two siblings, and their children comprised a nonidentical twin. While the proband demonstrated factor X deficiency, obstructive hypertrophic cardiomyopathy, and primary hypercholesterolemia, her parents and her elder sister were considered heterozygous for factor X. In addition, her mother had elevated plasma cholesterol levels, and her father primary hypercholesterolemia as well as mitral valve prolapse. The twin sister, heterozygous for factor X deficiency, displayed mitral valve prolapse. The clustering of defective genes in this family was considered to represent 'coincidental' occurrences rather than being linked to each other.
Adolescent↗
Treatment of amyloidosis associated factor X deficiency.
This is the tenth patient in thirteen years to be reported with the findings of an isolated factor X deficiency associated with primary amyloidosis. A favorable response to factor IX concentrate was manifested by temporary clinical and laboratory correction of her diathesis. This mode of treatment, therefore, provides an approach to therapy for bleeding complications in this group of patients who have previously failed to response to fresh frozen plasma.
Amyloidosis↗
Spontaneous epidural hematoma following a shunt in an infant with congenital factor X deficiency. Case report and literature review.
The authors describe a case of an infant with congenital factor X deficiency. The patient presented with a central nervous system hemorrhage followed by hydrocephalus. He underwent a ventriculoperitoneal shunt and, during the postoperative period, developed a spontaneous epidural hematoma, which was evacuated. The clinical and pathophysiological aspects of this case are discussed based on a literature review.
Adult↗
Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain.
Severe factor X deficiency (<0.01 IU mL(-1)) is a rare disorder producing a major bleeding tendency including umbilical cord, joint and intracranial haemorrhage. We present the first case of a child homozygous for a g.1177T > C missense alteration, predicted to disrupt the catalytic domain, and resulting in severe FX deficiency. The child suffered intracranial haemorrhage and now receives regular prophylaxis with a prothrombin complex concentrate. Our experience and a review of the literature suggest that optimal frequency of dosing is likely to be two or three times weekly and that the risk of thrombosis is very small.
Adolescent↗
Characterization of amyloid deposits and P component from a patient with factor X deficiency reveals proteins derived from a lambda VI light chain.
Amyloid fibrils were isolated from a spleen obtained at surgery from a 58-year-old white man with primary amyloidosis presenting with factor X deficiency and responding dramatically to splenectomy. Gel filtration on Ultragel ACA 54 in 5 M guanidine 1 M acetic acid yielded components with molecular weights between 17,000 and 13,000. Two of them (17K and 15K) were studied in detail. Antigenic and amino acid sequence analysis showed that these proteins were related to lambda VI immunoglobulin light chain. The predominant protein subunits of the amyloid fibril of the deposits (17K) was processed at the carboxy terminus in the same section of the constant region as the only other lambda VI amyloid protein previously reported. Amino terminal sequence of the 15K protein revealed not only degradation at the C terminal, but also minor degradation at the amino terminal (three residues difference from the 17K species). P component was also isolated from the spleen and characterized. This represents the first antigenic and sequence analysis of tissue amyloid proteins and P component from a patient presenting with factor X deficiency and another example of amyloid proteins derived from the newly discovered amyloidogenic lambda VI light chain subgroup.
Amino Acids↗
Progressive systemic sclerosis with the nephrotic syndrome and acquired factor X deficiency.
A patient with progressive systemic sclerosis (PSS) involving skin, digit, esophagus, and lung developed the nephrotic syndrome and rapidly progressive renal insufficiency. Renal pathology revealed capillary collapse, cellular crescents, arteriolar hyaline deposition, and mesangial proliferation. On immunofluorescence IgM, C3, and fibrinogen were present in mesangium and capillary walls. Prebiopsy coagulation screening revealed a factor X deficiency which caused substantial prolongation of the partial thromboplastin time without an overt bleeding diathesis. The acquired factor X deficiency resolved after fresh frozen plasma and vitamin K administration, although some spontaneous improvement was noted. Nephrotic syndrome may occasionally be seen in the acute fulminant form of PSS and should not deter diagnosis of PSS.
Capillaries↗
Spontaneous major bleeding in acquired factor X deficiency secondary to AL-amyloidosis.
Abnormal bleeding may be seen in up to a third of patients with amyloidosis. Factor X deficiency is the commonest acquired coagulopathy in amyloidosis. While mild intracutaneous bleeding is common, spontaneous life-threatening haemorrhage is rare. We report a case of acquired FX deficiency due to amyloid light chain (AL)-amyloidosis presenting with spontaneous retroperitoneal bleeding. The diagnostic and management issues in this patient are discussed.
Aged↗
[Congenital factor X deficiency, the Prower-Stuart deficiency].
The congenital deficit of factor-X is extremely rare and usually goes with mild bleeding tendency. The variations of the factor-X activities are described individually and depend on the tests used, that is: activating factor-X by tissue or blood thromboplastin, Russel's Viper Venom, by neutralisation of the antibodies or immunoprecipitation. The test depends on the possibility of the specific congenital deficient plasma or on the use of the filtered bovine plasma. That's why it is rather difficult to classify the cases and order the minimum of the hemostatic level. Besides a short description of some physical, chemical and biochemical characteristics of factor-X, present the case with congenital deficit of Prower-Stuart factor discovered in our laboratory, together with the findings and procedures in identifying and confirming it.
Aged↗
Novel factor X deficiency. Normal partial thromboplastin time and associated spindle cell thymoma.
This report presents a heretofore undescribed laboratory variant of congenital factor X deficiency, seen in conjunction with a relatively rare tumor. The patient had a history of bleeding, a prolonged prothrombin time, and a factor X value of 4.2 percent of normal activity, but the partial thromboplastin time and Russell's viper venom clotting time were normal. Management of this case required unusual measures to treat the patient's coagulopathy.
Blood Coagulation Tests↗
Candida vertebra osteomyelitis in a girl with factor X deficiency.
Candidal vertebra osteomyelitis is a rare condition which occurs primarily in immunocompromised patients. We report a 14-year-old girl with factor X deficiency who developed candida vertebra osteomyelitis during home therapy. The microorganism was probably from a contaminated peripheral cannula used for infusion of factor concentrate. This is the first such case in bleeding disorders to our knowledge.
Adolescent↗
Lupus anticoagulant associated with transient severe factor X deficiency: a report of two patients presenting with major bleeding complications.
Acquired factor X (FX) deficiency is rare, but has been reported in diverse disease states, including systemic amyloidosis and respiratory infections. FX deficiency associated with lupus anticoagulant (LA) and a bleeding diathesis has not been previously reported. We report two patients both of whom presented with a severe bleeding diathesis after a preceding respiratory infection due to isolated FX deficiency associated with a LA. The FX deficiency and LA were transient. We conclude that patients with LA may rarely present with severe acquired FX deficiency. This may be another mechanism whereby patients with antiphospholipid antibodies present with bleeding complications.
Antibodies, Antiphospholipid↗
Antenatally diagnosed subdural haemorrhage in congenital factor X deficiency.
The presence of a subdural haemorrhage was observed in a fetus during antenatal ultrasound examination. The infant was found to be a homozygote for factor X deficiency. Prompt recognition permitted replacement treatment from an early stage. Inherited coagulation disorders should be suspected when intracranial haemorrhage is detected antenatally.
Cerebral Hemorrhage↗
NORETHYNODREL IN THE TREATMENT OF FACTOR X DEFICIENCY.
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Blood Transfusion↗
Posttraumatic lipoma in a patient with congenital factor X deficiency.
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Adult↗
Two episodes of hemoperitoneum from luteal cysts rupture in a patient with congenital factor X deficiency.
The clinical manifestation of two episodes of hemoperitoneum from ruptured corpus luteum cysts, during the luteal phase of the cycle in a young patient with the rare congenital factor X deficiency, is reported for the first time in literature. The correct diagnosis of the underlying disorder, the gynecological management and the regular follow-up can minimize the risks of this potentially life-threatening hematological disorder.
Abdominal Pain↗