scholarly journals Acquired Factor X Deficiency Associated with Systematized Amyloidosis—A Report of a Case

Blood ◽  
1963 ◽  
Vol 21 (6) ◽  
pp. 739-744 ◽  
Author(s):  
MARGARET HOWELL

Abstract A case is described of acquired factor X deficiency in a patient with diffuse amyloidosis and myelomatosis. Rapid transfusion with fresh plasma failed to shorten the Quick single stage prothrombin time. Inhibition of factor X could not be demonstrated in the Patient's plasma in vitro.

1962 ◽  
Vol 07 (03) ◽  
pp. 558-566 ◽  
Author(s):  
Kristoffer Korsan-Bengtsen ◽  
Peter F Hjort ◽  
Johan Ygge

SummaryA patient with extensive amyloidosis and a selective factor X deficiency is described. The following observations indicate that the factor X deficiency in this case is not inherited.1. The first symptoms of a bleeding tendency appeared at an age of 50 years.2. The patient’s four children had no clotting defect.3. After infusion of 1 liter of fresh plasma no increased factor X activity was observed. No anticoagulants could be demonstrated in vitro.


1977 ◽  
Author(s):  
E.D. Gomperts ◽  
M. Zucker

Antithrombin III is one of the serine proteinase inhibitors of the plasma which has been shown to specifically inhibit thrombin as well as Factor X. Heparin acts via antithrombin III, the heparin cofactor, hence it is difficult to explain the relative insensitivity of the prothrombin time to the presence of heparin in plasma as both thrombin, ana Factox Xa are associated functionally with the prothrombin time. This insensitivity becomes more obvious on appreciating the extreme sensitivity to heparin of the activated partial thromboplastin time as well as the thrombin time. This communication reports the demonstration of heparin inhibiting action of brain thromboplastin. The response of the prothrombin time to heparin under various conditions, and the effect of brain thromboplastin obtained from various sources and by different preparative techniques on the action of heparin in vitvo have been studied. The heparin inhibiting activity was shown to parallel the tissue factor activity. It is heat labile, non-dialysable, destroyed by detergent activity and lies in a high molecular weight fraction of the brain thromboplastin preparation (>300,000). In addition to explaining certain in vitro phenomena, these observations may explain the previously observed heparin resistance in the generalised Schwartzman phenomenon.


1979 ◽  
Author(s):  
F Peuscher ◽  
W van Aken ◽  
A Swaak ◽  
L Sie ◽  
L Statius van Eps

An isolated deficiency of factor X is known to occur in a hereditary form, the Stuart-Prower disease, and in an acquired form in some patients with para-proteinaemia and sporadically in systemic amyloidosis. Transient deficiency of factor X in the presence of normal levels of factors II, VII and V appears to be rare. In the literature, only three cases have been described. We have studied a patient with a severe haemorrhagic diathesis and concomitant mycoplasma pneumonial infection. The bleeding tendency proved to be due to isolated factor X deficiency. No circulating inhibitors of factor X were present. Systemic amyloidosis could not be demonstrated. Factor X-related antigen could not be detected (this test was kindly performed by Dr.Daryl S.Fair, Scripps Clinic and Research Foundation, La Jolla, U.S.A.). Treatment with vitamin K, prothrombin complex concentrate, fresh plasma and whole blood proved not to influence factor X activity in the patient’s plasma. However, 20 days after admission⋅to hospital both factor X activity and antigen spontaneously returned to normal. These results suggest that the synthesis of factor X was transiently defective. Since other conditions known to affect factor X activity could not be demonstrated, it is postulated that the acquired factor X deficiency in this patient was related to the infection with mycoplasma pneumoniae.


1999 ◽  
Vol 56 (9) ◽  
pp. 523-525 ◽  
Author(s):  
Bohler ◽  
Lämmle

Wir beschreiben den Fall einer 68jährigen Patientin, welche im April 1994 spontan einen Hämarthros am rechten Ellenbogengelenk erlitt. Eine Neigung zu kutanen Ekchymosen bestand seit Sommer 1993. Die damals gefundenen tiefen Quickprozentwerte um 40–50% ohne Korrektur nach prolongierter Gabe von Vitamin K wurden erst 1994 abgeklärt. Die Gerinnungsanalysen zeigten einen isolierten Faktor X (FX)-Mangel ohne Nachweis eines zirkulierenden FX-Inhibitors. Dies suggerierte die Diagnose einer systemischen Amyloidose, welche retrospektiv anhand der ein Jahr zuvor entnommenen Dünndarmbiopsien bestätigt wurde. Wegen einer Amyloidose-bedingten beidseitigen Hüftkopfnekrose und beidseitiger stark schmerzhafter Schenkelhalsfraktur mußte die Patientin im Juni 1994 operiert werden und verstarb vier Wochen später nach mehrfachen Blutungskomplikationen. Ein isolierter FX-Mangel kann hereditär bedingt sein, sollte aber immer auch an eine systemische Amyloidose denken lassen. Die mögliche hämorrhagische Diathese bei Amyloidose ist nicht nur durch den FX-Mangel, sondern auch durch die Amyloidablagerung in den (kleinen) Blutgefäßen bedingt (akquirierte vaskuläre hämorrhagische Diathese).


1979 ◽  
Author(s):  
N.R. Porter ◽  
R.G. Malia ◽  
P.C. Cooper ◽  
F.E. Preston

Two unrelated patients with congenital factor X deficiency are described. R.N. a four year old Pakistani child of consanguinous marriage presented with gastrointestinal haemorrhage. Routine tests of coagulation revealed a grossly prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by three unrelated methods, was < 1%. Factor X related antigen (FXRAg) measured by antibody neutralisation was undetectable. In other, less affected members of the family FXC/FXRAg = 1 An infusion of factor X concentrate raised the factor X to 140%. The rate of decline was biphasic with an initial rapid component, T½ = 4 hours, and a slower second component T½ = 33 hours. The second patient, P.P. a Caucasian female presented with persistent post-dental extraction haemorrhage. Routine tests of coagulation revealed a prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by two unrelated methods was 20 - 32% (normal 58- 134%) FXRAg was 71% (normal 60 - 120%). FXC/FXRAg = 0.35. Similar ratios were obtained on three other affected members of the family. The ratio represents an Important difference between the two families. Studies using the modified thrombotest strongly suggest an abnormal molecular complex in P.P. The results provide further evidence of the heterogenity of factor X deficiency states.


2018 ◽  
Vol 5 (4) ◽  
pp. 28
Author(s):  
Fadime Ersoy Dursun ◽  
Erdal Akyar ◽  
Gokhan Uygun ◽  
Zafer Baslar ◽  
Bengu Cobanoglu

Introduction: Isolated and combined factor deficiencies are known to occur in systemic primary amyloidosis. The most common factor deficiency known in these cases is isolated factor X deficiency. Other factor deficiencies are relatively less frequent. Isolated factor VII deficiency occurs very rarely in cases of systemic primary amyloidosis.Case report: A 58-year-old male patient previously presenting to another health center with complaints of generalized edema, fatigue, and itching had proteinuria and then he was diagnosed with systemic primary amyloidosis after the renal biopsy for proteinuria etiology. The patient’s laboratory tests showed prolongation of prothrombin time and factor VII deficiency. The patient responded well to the treatment for primary amyloidosis and factor VII deficiency.Discussion: In cases of systemic primary amyloidosis, if the etiology of prolonged prothrombin time involves no liver disease, warfarin use, or malabsorption, physicians should always keep in mind rare factor deficiencies such as factor VII deficiency, along with common factor deficiencies.


1987 ◽  
Author(s):  
M Kos ◽  
K Geibler ◽  
K Ratheiser ◽  
I Pabinger ◽  
Ch Korninger ◽  
...  

A 64 year old women without any previous history of bleeding diathesis presented with bone pain and gastrointestinal bleeding. An isolated severe factor X deficiency (factor X activity 0.5%, factor X antigen less than 12.5%) was found. No inhibitor that inactivated factor X in vitro or interfered with factor X assay could be demonstrated. Substitution therapy with a prothrombin complex preparation containing factor X (PPSB Biotest) was given. Factor X recovery in the first 2 days was lower than expected (below 20%) and half life of factor X was shortened (150 minutes). Subsequently, a diagnosis of multiple myeloma (light chain myeloma, type kappa) was made. Amyloidosis was excluded by electronmicroscopic examination of rectum biopsies. Chemotherapy according to the M2 protocol (Case et al) was initiated. Factor X recovery improved dramatically within 2 weeks and there was a continuous increase of factor X activity and antigen during chemotherapy. After 6 courses a complete haematological remission (less than 5% plasma cells in the bone marrow, disappearance of light chains) was obtained and factor X activity and antigen returned to normal.Isolated factor X deficiency is a wellknown complication of amyloidosis. To our knowledge, this is the first case of factor X deficiency in multiple myeloma without amyloidosis. The complete normalization of factor X after successful chemotherapy indicates that plasma cell proliferation may have been the cause of the factor X deficiency. Binding of factor X to plasma cells containing light chains could be a possible explanation, and we are currently examining this hypothesis.


1991 ◽  
Vol 96 (2) ◽  
pp. 196-200 ◽  
Author(s):  
Patricia E. Mulhare ◽  
Paula B. Tracy ◽  
Elizabeth A. Golden ◽  
Richard F. Branda ◽  
Edwin G. Bovill

1979 ◽  
Author(s):  
N Porter ◽  
R Malia ◽  
P Cooper ◽  
F Preston

Two unrelated patients with congenital factor X deficiency are described. R.N. a four year old Pakistani child of consanguinous marriage presented with gastrointestinal haemorrhage. Routine tests of coagulation revealed a grossly prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by three unrelated methods, was < 1%. Factor X related antigen (FXRAg) measured by antibody neutralisation was undetectable. In other, less affected members of the family FXC/FXRAg = 1 An infusion of factor X concentrate raised the factor X to 140%. The rate of decline was biphasic with an initial rapid component, T½ = 4 hours, and a slower second component T½ = 33 hours. The second patient, P.P. a Caucasian female presented with persistent post-dental extraction haemorrhage. Routine tests of coagulation revealed a prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by two unrelated methods was 20 - 32% (normal 58 - 134%) FXRAg was 71% (normal 60 - 120%). FXC/FXRAg = 0.35. Similar ratios were obtained on three other affected members of the family. The ratio represents an important difference between the two families. Studies using the modified thrombotest strongly suggest an abnormal molecular complex in P.P. The results provide further evidence of the heterogenity of factor X deficiency states.


1988 ◽  
Vol 60 (02) ◽  
pp. 298-304 ◽  
Author(s):  
C A Mitchell ◽  
S M Kelemen ◽  
H H Salem

SummaryProtein S (PS) is a vitamin K-dependent anticoagulant that acts as a cofactor to activated protein C (APC). To date PS has not been shown to possess anticoagulant activity in the absence of APC.In this study, we have developed monoclonal antibody to protein S and used to purify the protein to homogeneity from plasma. Affinity purified protein S (PSM), although identical to the conventionally purified protein as judged by SDS-PAGE, had significant anticoagulant activity in the absence of APC when measured in a factor Xa recalcification time. Using SDS-PAGE we have demonstrated that prothrombin cleavage by factor X awas inhibited in the presence of PSM. Kinetic analysis of the reaction revealed that PSM competitively inhibited factor X amediated cleavage of prothrombin. PS preincubated with the monoclonal antibody, acquired similar anticoagulant properties. These results suggest that the interaction of the monoclonal antibody with PS results in an alteration in the protein exposing sites that mediate the observed anticoagulant effect. Support that the protein was altered was derived from the observation that PSM was eight fold more sensitive to cleavage by thrombin and human neutrophil elastase than conventionally purified protein S.These observations suggest that PS can be modified in vitro to a protein with APC-independent anticoagulant activity and raise the possibility that a similar alteration could occur in vivo through the binding protein S to a cellular or plasma protein.


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