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Familial Haemophilia and Factor Vii Deficiency by M J Clin Pathol: first published as 10.1136/jcp.11.5.412 on 1 September 1958. Downloaded from J. clin. Path. (1958), 11, 412. FAMILIAL HAEMOPHILIA AND FACTOR VII DEFICIENCY BY M. CONSTANDOULAKIS Front the Group Laboratory, St. Mary Abbots Hospital, London* (RECEIVED FOR PUBLICATION MAY 12, 1958) This investigation is reported because of the months later he was readmitted with a few bruises combination of familial haemophilia and factor on the legs and bleeding gums. Bleeding subsided with VII deficiency and the unusual occurrence of a local treatment and vitamin K1. female haemophiliac. Brenda, his sister (aged 10), appears normal with- Cases of combined deficiencies of different out any haemorrhagic manifestations up till now. factors are extremely rare and up till now Eileen Br., his mother (aged 46), revealed that she clotting had had excessive bleeding during both her deliveries, there have been reported combinations of haemo- during and after a hysterectomy, being transfused in philia and factor V deficiency (Koller, 1954), order to control haemorrhage, and after tooth extrac- haemophilia and Christmas disease (Soulier and tions at different times. Larrieu, 1953), Christmas disease and factor VII Frank G. (aged 43), his maternal uncle, has bled deficiency (Bell and Alton, 1955; Stein and since a small child after trauma and tooth extrac- Abrahams, 1956; de Vries, Kettenborg, and van tions, oozing from sockets usually persisting for about der Pol, 1955), but not of haemophilia and factor three days. In 1948 he had a blow in the abdomencopyright. VII deficiency. which was followed by severe haematemesis and Female haemophiliacs in the homozygous state melaena and he was transfused in order to control have been reported by Merskey (1951), Israels, the haemorrhage. Frank G.'s daughter was not available, but accord- Lempert, and Gilbertson (1951), and in the hetero- father she has no bleeding phenomena. state by Taylor and Biggs (1957) and Fantl ing to her zygous Cathleen M. (aged 49), his maternal aunt, and her and Margolis (1955), their fathers being com- three children, two males and one female, of whom pletely normal. male was examined, have no only one (David) http://jcp.bmj.com/ The patient reported here is apparently in the bleeding phenomena. heterozygous state since her father had no bleed- His grandmother and grandfather had no bleeding ing phenomena during his life. phenomena, were not relatives, and in his grand- father's family there were no bleeders. His grand- Family History mother's brother was a bleeder and bled to death after trauma. His grandmother's sister was said to be Colin Br. (aged 11) bruised easily when an infant. an actual bleeder, but the available evidence was He was admitted to hospital for the first time in 1949, when a child from exces- conflicting. Her son died on September 24, 2021 by guest. Protected when 3 years old, with a haematoma of the right calf. sive bleeding. in 1951 a of haemophilia was On admission diagnosis The pedigree tree (Fig. 1), showing the inheritance made in view of the prolonged plasma clotting time is based and reduced prothrombin consumption. He was of haemophilia and factor VII deficiencies, readmitted several times afterwards with haemar- on investigations of the available members of the of knees and family. None of those without bleeding history was throses hip. available for examination. He was first seen at this hospital in March, 1957, when he was admitted with bruises on his legs and Laboratory Inivestigations. The clinical history of severe prolonged bleeding from the gums. Routine the family is consistent with haemophilia, but the investigations showed only an unexpectedly prolonged prolonged prothrombin time and the female bleeder prothrombin time (20/14 sec.). He was transfused made the diagnosis doubtful. The confirmation of with 2 pints of fresh A rhesus-negative blood and the haemophilia and the investigation of the pro- given vitamin K1. Next morning the prothrombin longed prothrombin time were therefore necessary. time was 15 /13 sec. and bleeding was diminished. From Table I the bleeding time is obviously normal, Several teeth were then extracted and treated in the while the clotting time (Lee-White mean of four following days and he was discharged well. Three tubes) is slightly prolonged in Eileen Br. and Frank G. Since 1949 repeated estimations of Colin Br.'s clot- * Present address: Clinical Investigation Department, Royal Marsden Hospital, London. ting times ranged between 4 and 14 minutes. the plate- J Clin Pathol: first published as 10.1136/jcp.11.5.412 on 1 September 1958. Downloaded from FAMILIAL HAEMOPHILIA AND FACTOR VII DEFICIENCY 413 copyright. + O No bleeding history Haemophiliacs I1) Bled to death i Factor-VIl-deficient patients http://jcp.bmj.com/ FIG. 1.-Pedigree tree. lets between 250,000 and 350,000 and the fibrinogen 10% quantities to the patient's plasma. Alumina between 0.18 and 0.31%. The prothrombin time is plasma contains adequate amounts of factor V but no slightly but definitely prolonged, and Colin Br.'s ranged prothrombin or factor VII which have been adsorbed from 17 to 20 sec. (control 13-14 sec.) on different occa- by the alumina. A factor V deficiency should there- sions. The prothrombin time is not corrected with the fore be excluded. The prothrombin time is corrected on September 24, 2021 by guest. Protected addition of fresh normal alumina-adsorbed plasma in by adding normal stored serum in 10% quantities to TABLE I RESULTS OF COAGULATION STUDIES OF THE FAMILY Prothrombin Prothrombin Clotting ing~Bleeding Prothrombin TimeNormalwhen TimeTim when Factor TimeClottm(min.). Time T 10%Absorbed Normal VII e(m.sec.)(min.sec.)Tune(sec.) ~Plasma Serum1 NrmAAdded Added (sec.) (sec.) Eileen Br. .. 15 1 30 16-5 155 12-5 60 Colin Br. 13-5 1 45 18* 18 14 40 Brenda Br. 9 5 3 30 19 18-5 13 40 Cathleen M. .. .. 115 2 15 16-5 16 12-5 - David M. 10-5 1 18 17 13-5 45 Frank G. 17 1 15 17 17 13 50 Normal.6-13 1-4 13 80-120 * His prothrombin time was 20 sec. during an episode of bleeding. J Clin Pathol: first published as 10.1136/jcp.11.5.412 on 1 September 1958. Downloaded from 4144M. CONSTANDOULAKIS TABLE II MIXTURES OF PATIENTS' PLASMA AND SERUM WITH DINDEVAN PLASMA AND FACTOR-VII-DEFICIENT SERUM AND EFFECT ON PROTHROMBIN TIME Eileen Br. Colin Br. Dindevan Eileen Br. Coln Br. Normal Factor VII- Prothrombin Plasma Plasma Plasma Serum Serum Serum deficient Serum Time M%) M%) M%) M%) M%) Mo) M) (sec.) too 16-5 100 18 100 45 90 10 125 90 10 17 90 10 13-5 90 10 18 90 10 22 90 10 24 90 10 16-5 90 10 37 TABLE III THROMBOPLASTIN GENERATION IN NORMAL PLATELETS AND PATIENTS' SERUM AND PLASMA Normal Control Eileen Br. Colin Br. Brenda Br. Cathleen M. David M. Frank G. Minutes (sec.) (sec.) (sec.) (sec.) (sec.) (sec.) (sec.) 2 11 20 32 11 11-5 11 305 3 9-5 19 28 1 1 11 11 30 5 5 9 5 19 28 10-5 10.5 11-5 25 the patient's plasma. Normal serum contains factor been detected after the incubation of the plasma with VIi but no factor V and only minimal amounts of normal plasmas or A.H.G. at 370 C. copyright. prothrombin, both being consumed during clotting. These results of the thromboplastin generation Normal serum contains Christmas factor as well, but exclude again factor V and Christmas factor defici- lack of this factor does not influence prothrombin ency which might have been responsible for the time. The amount of prothrombin was normal as abnormal generation and establish the antihaemo- estimated with the two-stage technique (Biggs and philic globulin deficiencx. They show in addition that Macfarlane, 1957) in two patients. factor VtI does not influence at all the thromboplastin It is probable, therefore, that the pro'onged generation because the latter is normal when using prothrombin time is due to factor VII deficiency. normal plasma and patient's serum deficient in This is established because (a) the low level of factor factor VII. http://jcp.bmj.com/ VII as determined quantitatively by Owren's method, (b) the failure to correct the prothrombin time of the Treatment. During the acute bleeding fresh blood patients' plasma when they were crossed with factor- was given and the haemorrhage controlled. Pure VII-deficient serum, and (c) the only partial correc- animal anti-haemophilic globulin should be reserved tion of "dindevan" plasma lacking in factor VII for severe bleeders and serious operations, having in when crossed with the patients' sera (Table II). mind the sensitivity that develops and the difficulty Thromboplastin generation (Biggs and Macfarlane, of its preparation (Macfarlane, Mallam, Witts, Bid- 1957) was abnormal in three members of the family well, Biggs, Fraenkel, Honey, and Taylor, 1957). on September 24, 2021 by guest. Protected (Table III). In these three patients, by replacing their Vitamin K1 was given as well, and in one other plasma with adsorbed normal plasma containing instance, when the bleeding was mild, only vitamin antihaemophilic globulin and factor V, or by adding K1. Although it is said to be without any benefit in minimal amounts of pure A.H.G. to their plasma, the congenital cases, Newcomb, Matter, Conroy, De- generation of thromboplastin became normal (Tables Marsh, and Finch (1956), van Creveld, Veder, and IV and V). Mixtures of patients' plasma and known Blans (1956), and Stefanovic. Milosavljevic. and haemophilic plasma did not correct the deficient Stefanovic (1955) observed some beneficial response. thromboplastin generation. No anticoagulant has TABLE V TABLE IV THROMBOPLASTIN GENERATION IN NORMAL PLATE- THROMBOPLASTIN GENERATION IN NORMAL PLATELETS, LETS, PATIENTS' SERUM AND PATIENTS' PLASMA+ PATIENTS' SERUM AND NORMAL PLASMA MINIMAL AMOUNTS A.H.G.
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