Factor X Friuli Coagulation Disorder

Girolami, Antonio; Falomo, R; Marco, L De; Patrassi, G

doi:10.1159/000207916

Cited by 9 publications

(1 citation statement)

References 13 publications

(9 reference statements)

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“…During the past 20 years he suffered twice yearly on average from spontaneous hema turia. A diagnosis of Factor X Friuli defect was made in 1969 and confirmed on several occasions thereafter [12]. Until 1981 he was successfully treated, when necessary, with plasma infusions.…”

Section: Case Reportmentioning

confidence: 96%

First Report of Centroblastic Lymphoma in a Human Immunodeficiency Virus-Positive Patient with a Rare Congenital Coagulation Disorder (Factor X Friuli)

Luzzatto¹,

Galligioni²,

Pennelli³

et al. 1991

Acta Haematol

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The association of lymphoma and human immunodeficiency virus (HIV) seropositivity in a patient with a rare congenital clotting disorder (Factor X Friuli) is reported. The propositus was a previously asymptomatic HIV-positive 46-year-old man who suddenly presented a rapidly evolving right exophthalmos due to a centroblastic lymphoma, as the presenting symptom of full-blown AIDS. The clinical picture was characterized by unusual site of presentation, advanced stage and fatal course over a short period of time, despite therapy. Bone marrow, but not lymph node or parenchymal involvement, was present. Central nervous system involvement, with an unusual diffuse and massive pattern, and the B-cell origin of the lesion were demonstrated at autopsy. Few reports exist so far about the association of malignancy and HIV in patients with congenital coagulation disorders and this is the first report about a defect other than classic hemophilia.

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Section: Case Reportmentioning

confidence: 96%

First Report of Centroblastic Lymphoma in a Human Immunodeficiency Virus-Positive Patient with a Rare Congenital Coagulation Disorder (Factor X Friuli)

Luzzatto¹,

Galligioni²,

Pennelli³

et al. 1991

Acta Haematol

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A family with heterozygous factor X friuli defect outside friuli

Girolami

Lazzarin

Procidano

et al. 1983

Blut

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Three members of the same family were found to have a clotting defect consistent with the diagnosis of heterozygous factor X Friuli disorder. The main features of the defect were a mild prolongation of prothrombin time and partial thromboplastin time, but a normal Stypven-Cephalin clotting time. Factor X activity was 40-50% of normal using tissue thromboplastin, but was perfectly normal using Russell's viper venom and cephalin. Using chromogenic substrate S-2222 the level was 30% of normal. Immunologically, factor X was normal. Bleeding manifestations were mild if any. The hereditary pattern was autosomal. The family comes from an area far away from Friuli and represents the first example of factor X Friuli discovered outside the Friuli.

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A new family with classical factor X deficiency as demonstrated by electroimmunoassay

Girolami

Luzzatto

Scattolo

et al. 1983

Blut

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A new family with classical factor X deficiency is described. The proposita is a 6 year old girl who presented with occasional epistaxis and a hematoma after an intramuscular injection. The main laboratory features consisted in a prolongation of partial thromboplastin, prothrombin and Stypven clotting times corrected by the addition of normal serum. Factor X activity varied between 3 and 6%. Factor X amydolytic activity was 15% of normal. Electroimmunoassay failed to show the presence of factor X antigen. No inhibitor was found in the proposita plasma. Parents and other family members showed intermediate levels of factor X activity and antigen and were considered to be heterozygotes. No consanguineity was found in the family.

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Factor X Friuli Coagulation Disorder

Cited by 9 publications

References 13 publications

First Report of Centroblastic Lymphoma in a Human Immunodeficiency Virus-Positive Patient with a Rare Congenital Coagulation Disorder (Factor X Friuli)

First Report of Centroblastic Lymphoma in a Human Immunodeficiency Virus-Positive Patient with a Rare Congenital Coagulation Disorder (Factor X Friuli)

A family with heterozygous factor X friuli defect outside friuli

A new family with classical factor X deficiency as demonstrated by electroimmunoassay

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