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Clinical and laboratory findings in factor XI deficiency
ABSTRACTS OF ANNUAL SCIENTIFIC MEETING
1971
75
one DLE, one portal hypertension). T h e majority of patients with splenomegaly had an increased M G P : C G P ratio, but none showed a significant shortening of granulocyte survival. In most cases, granulocytes were being produced at a normal or greater than normal rate. Two patients with splenomegaly (one with lymphoma, one with Felty's syndrome) underwent splenectomy, with an increase in circulating granulocytes in each case. Results in 2 patients with lymphoma without splenomegaly were essentially normal, while 2 patients with neutropenia without splenomegaly showed a normal granulocyte survival, a decrease in granulocyte production and an increase in the M G P CGP ratio. PROLONGATION OF QUICK'S ONE-STAGE PROTHROMBIN TIME BY A N INHIBITOR SPECIFIC FOR FACTOR V
HANDLEY, D. A . Australia
Iiistirure qf Medical mid Vererinarjl Science, Adelaide, Soutli
A 78-yr.-old man was proven by laparotomy to have a carcinoma of the prostate. Phenindione therapy was commenced post-operatively for a suspected pulmonary embolus, but was discontinued when the prothrombin activity was found to be less than 5",,. T h e prothrombin activity rose only slightly with vitamin K and has remained at about 15",, for over 12 mth. T h e addition of a 1 10 volume of normal plasma did not significantly affect the patient's prothrombin time and the incubation of the patient's serum with normal plasma led to marked prolongation, indicating the presence of an anti-coagulant. A clotting system based on the one-stage prothrombin time was prepared in which alumina-absorbed normal plasma was used as a source of factor V, and a concentrate of factors 11, VII, IX, and X (P.P.S.B., C.S.L., Melbourne) was used to supply the remaining clotting factors required. Pre-incubation of the patient's serum with the alumina plasma (factor V) led to marked prolongation of the clotting time, while pre-incubation with P.P.S.B. had no effect. This suggested thait the inhibitor was acting specifically on factor V. The inhibitory action was not immediate, but was maximal after about 5 min. incubation at 17 . On column chromatography using 'Sephadex' G 200 gel, the inhibitor appeared with the second protein peak, while traces of factors V I I and X were evident in the third peak. There are only 6 case reports of inhibitors specific for factor V in the literature, and all of these were transient, being present for days or weeks. T h e present case is unusual in that the inhibitor has remained unchanged for over a year. A surprising feature, also seen in the casc reported by Handley and Duncan is that, in spite of a gross abnormality on laboratory testing, the patient has not had excessive bleeding. CLINICAL A N D LABORATORY FINDINGS I N FACTOR XI DEFICIENCY
GRACE,C. S., KROKENBERG, H. & KICKARL), K. A . Svdnev, h'ew Sourli Wales
Royal P r i m e Alfred H o . p t d ,
T h e propositus was a 39-yr.-old woman who gave a history of excessive bleeding following surgery, but apart from frequent epistaxes as a child, no spontaneous haemorrhage. Her daughter, who also has a low level of Factor XI, had undergone an uneventful appendeci-omy and normal pregnancy. 1.aboratory studies revealed a normal bleeding time, a prolonged whole blood clotting time and a prolonged partial thromboplastin time with kaolin. T h e thromboplastin generation test was abnormal using the patient's serum or absorbed plasma while the patient's plasma corrected the defect in the plasma from a patient with Factor XI1 deficiency. T h e diagnosis of Factor XI deficiency was confirmed by the failure of her plasma to correct plasmas artificially depleted of Factor XI and from a patient with known Factor XI deficiency (Rosenthal's original patient). T h e therapeutic management of the patient undergoing hysterectomy was described. T h e postoperative course was punctuated by a severe hacmorrhage when the level of Factor XI dropped to below 20' ,. She obtained the calculated rise in Factor XI following transfusion with fresh frozen plasma and the half life of Factor XI was found to be about 40 hr.
1971
75
one DLE, one portal hypertension). T h e majority of patients with splenomegaly had an increased M G P : C G P ratio, but none showed a significant shortening of granulocyte survival. In most cases, granulocytes were being produced at a normal or greater than normal rate. Two patients with splenomegaly (one with lymphoma, one with Felty's syndrome) underwent splenectomy, with an increase in circulating granulocytes in each case. Results in 2 patients with lymphoma without splenomegaly were essentially normal, while 2 patients with neutropenia without splenomegaly showed a normal granulocyte survival, a decrease in granulocyte production and an increase in the M G P CGP ratio. PROLONGATION OF QUICK'S ONE-STAGE PROTHROMBIN TIME BY A N INHIBITOR SPECIFIC FOR FACTOR V
HANDLEY, D. A . Australia
Iiistirure qf Medical mid Vererinarjl Science, Adelaide, Soutli
A 78-yr.-old man was proven by laparotomy to have a carcinoma of the prostate. Phenindione therapy was commenced post-operatively for a suspected pulmonary embolus, but was discontinued when the prothrombin activity was found to be less than 5",,. T h e prothrombin activity rose only slightly with vitamin K and has remained at about 15",, for over 12 mth. T h e addition of a 1 10 volume of normal plasma did not significantly affect the patient's prothrombin time and the incubation of the patient's serum with normal plasma led to marked prolongation, indicating the presence of an anti-coagulant. A clotting system based on the one-stage prothrombin time was prepared in which alumina-absorbed normal plasma was used as a source of factor V, and a concentrate of factors 11, VII, IX, and X (P.P.S.B., C.S.L., Melbourne) was used to supply the remaining clotting factors required. Pre-incubation of the patient's serum with the alumina plasma (factor V) led to marked prolongation of the clotting time, while pre-incubation with P.P.S.B. had no effect. This suggested thait the inhibitor was acting specifically on factor V. The inhibitory action was not immediate, but was maximal after about 5 min. incubation at 17 . On column chromatography using 'Sephadex' G 200 gel, the inhibitor appeared with the second protein peak, while traces of factors V I I and X were evident in the third peak. There are only 6 case reports of inhibitors specific for factor V in the literature, and all of these were transient, being present for days or weeks. T h e present case is unusual in that the inhibitor has remained unchanged for over a year. A surprising feature, also seen in the casc reported by Handley and Duncan is that, in spite of a gross abnormality on laboratory testing, the patient has not had excessive bleeding. CLINICAL A N D LABORATORY FINDINGS I N FACTOR XI DEFICIENCY
GRACE,C. S., KROKENBERG, H. & KICKARL), K. A . Svdnev, h'ew Sourli Wales
Royal P r i m e Alfred H o . p t d ,
T h e propositus was a 39-yr.-old woman who gave a history of excessive bleeding following surgery, but apart from frequent epistaxes as a child, no spontaneous haemorrhage. Her daughter, who also has a low level of Factor XI, had undergone an uneventful appendeci-omy and normal pregnancy. 1.aboratory studies revealed a normal bleeding time, a prolonged whole blood clotting time and a prolonged partial thromboplastin time with kaolin. T h e thromboplastin generation test was abnormal using the patient's serum or absorbed plasma while the patient's plasma corrected the defect in the plasma from a patient with Factor XI1 deficiency. T h e diagnosis of Factor XI deficiency was confirmed by the failure of her plasma to correct plasmas artificially depleted of Factor XI and from a patient with known Factor XI deficiency (Rosenthal's original patient). T h e therapeutic management of the patient undergoing hysterectomy was described. T h e postoperative course was punctuated by a severe hacmorrhage when the level of Factor XI dropped to below 20' ,. She obtained the calculated rise in Factor XI following transfusion with fresh frozen plasma and the half life of Factor XI was found to be about 40 hr.