76
I HEREDITARY BLEEDING DISORDERS
Tropical Doctor, April I979
Clinical Medicine
Hereditary bleeding disorders as seen at the Kenyatta National Hospital, Nairobi, Kenya E. G. Kasili, MB, ChB Senior Lecturer in Haematology, Department of Pathology, Medical School, University of Nairobi
M. W. Kariithi, DipMLT Technologist in Haematology ; Kenyatta National Hospital TROPICAL DOCTOR,
1979, 9, 76-80
Although some authors have considered hereditary bleeding disorders to be uncommon in Africans (Gelfand 1957; Griffiths and Lipschitz 1949; Trowell 1941), others who have worked in the same field have indicated that the problem, particularly of haemophilia and Christmas disease, is larger than has been previously realized (Comperts et al. 1969; Forbes et al. 1966; Lothe 1968; Taylor et al. 1969; Chintu 1976). Taylor et al. (1969) were impressed by the preponderance of mild haemophilia in Kenya. Indeed, what is seen as mild haemophilia in Kenya might well be one tenth of the iceberg that has been submerged by the haemostatic challenges of tooth extraction, ritual circumcision, accidental trauma, and fatal spontaneous haemorrhage in the severe haemophiliac. With the remarkable advances in the diagnosis and treatment of Factor VIII and IX deficiencies in the past decade, the quality of life of the many affected in the temperate countries has greatly improved (Abildgaard 1975). It is therefore certain that with improved diagnostic facilities and awareness many more patients in Kenya will get the benefit of modern therapeutic techniques. Taylor et al. (1969) have already demonstrated the vital role of cryoprecipitate, which will be, for a long time, the cornerstone of the management of haemophilia in the tropics. This paper deals with the hereditary haemorrhagic disorders investigated by us from March 1975 to September 1976, and serves as further documentation of cases from Kenya in addition to those previously reported (Forbes et al. 1966; Lothe 1968). THE PATIENTS
During the specified period, 42 patients were investi-
gated and documented as having a hereditary bleeding diathesis. Thirteen of them were referred from outpatient clinics such as ENT, Medical, Orthopaedics and Dental for laboratory tests because they volunteered a history of disproportionate bleeding after injury or spontaneously; 16 had been admitted to the wards for management of a bleeding episode and thereafter were investigated. Eight others, two being Asians, were referred from peripheral and neighbouring hospitals for laboratory tests to define the aetiology of their bleeding tendency. Two of the remaining five were previously known cases and three were studied because their relatives were "bleeders". Biostatistical data and a bleeding history were recorded in all the cases where the information was available. The most frequent complaint was spontaneous bleeding which included haemarthroses - 15 cases; epistaxis - eight cases; intramuscular haematoma three cases; recurrent intraocular haemorrhage that was later shown to be associated with Factor X deficiency - one case; repeated bleeding from the gums - two cases. Some others were due to traumatic haemostatic challenges which comprised excessive bleeding from minor cuts - 17 cases; after circumcision - two cases. Five of the patients were either already known cases or had relatives with confirmed haemorrhagic disease. One case was diagnosed during a major surgical operation after a road traffic accident. Of these 42 patients, 13 had a positive genealogical history; seven of the 13 were members of three families. Six did not have any other member of the family studied in spite of a positive history. Thus, 29 patients had no evidence of a familial bleeding disorder as assessed from the history. The implications of this will be discussed below. LABORATORY STUDIES
The initial tests performed on all cases were in the form of a six-test coagulation screening. (I) Bleeding time (Ivy's method in all subjects above one year of age or Duke's method in infants); (2) one-stage Quick's prothrombin time using local brain thromboplastin which is standardized against the British Comparative Thromboplastin; (3) kaolin cephalin clotting time (KCCT) using the platelet substitute from Diagen or plate lin from "General Diagnostics"; (4) thrombin cloning time using the Parke-Davis reagent; (5) platelet count by the Coulter Electronics
Tropical Doctor, April I97()
Table
I.
HEREDITARY BLEEDING DISORDERS
Haemostatic values in the investigated patients Normal laboratory values
Parameter
Bleeding time (in minutes) Prothrombin time (in seconds) KCCT (in seconds) Thrombin time (in seconds) Platelet count per mm"
Bleeding disorder
Values in patients (mean and range)
13·3 (12'0 - 15'0)
Haemophilia and Christmas disease VWD All disorders excluding Factor X deficiency
3·2 (2'0 - 6'5) 12·3 (7,5 - 200) 15·0 (12'0 - 18'0)
39·5 (35,0 - 45'0) 10·0 (9,0 - 11'0)
All disorders except in Glanzmann's disease All disorders
84·0 (51'0 - 130'0) 10·7 (9,0 - 12'5)
190,000 (100,000 - 400,000)
All disorders
318,000 (145,000 - 810,000)
4·0 (3'0 - 7'0)*
*All the values in brackets are ranges.
6
6
6
J.K.
SW.
OW.
PROPOSITI DMALE
OFEMALE
IIMALE HAEMOPHILIAC
(J)FEMALE CARRIER
tOECEASED
----------------------------------------
I HEREDITARY BLEEDING DISORDERS
Tropical Doctor, April I979
Clinical Medicine
Hereditary bleeding disorders as seen at the Kenyatta National Hospital, Nairobi, Kenya E. G. Kasili, MB, ChB Senior Lecturer in Haematology, Department of Pathology, Medical School, University of Nairobi
M. W. Kariithi, DipMLT Technologist in Haematology ; Kenyatta National Hospital TROPICAL DOCTOR,
1979, 9, 76-80
Although some authors have considered hereditary bleeding disorders to be uncommon in Africans (Gelfand 1957; Griffiths and Lipschitz 1949; Trowell 1941), others who have worked in the same field have indicated that the problem, particularly of haemophilia and Christmas disease, is larger than has been previously realized (Comperts et al. 1969; Forbes et al. 1966; Lothe 1968; Taylor et al. 1969; Chintu 1976). Taylor et al. (1969) were impressed by the preponderance of mild haemophilia in Kenya. Indeed, what is seen as mild haemophilia in Kenya might well be one tenth of the iceberg that has been submerged by the haemostatic challenges of tooth extraction, ritual circumcision, accidental trauma, and fatal spontaneous haemorrhage in the severe haemophiliac. With the remarkable advances in the diagnosis and treatment of Factor VIII and IX deficiencies in the past decade, the quality of life of the many affected in the temperate countries has greatly improved (Abildgaard 1975). It is therefore certain that with improved diagnostic facilities and awareness many more patients in Kenya will get the benefit of modern therapeutic techniques. Taylor et al. (1969) have already demonstrated the vital role of cryoprecipitate, which will be, for a long time, the cornerstone of the management of haemophilia in the tropics. This paper deals with the hereditary haemorrhagic disorders investigated by us from March 1975 to September 1976, and serves as further documentation of cases from Kenya in addition to those previously reported (Forbes et al. 1966; Lothe 1968). THE PATIENTS
During the specified period, 42 patients were investi-
gated and documented as having a hereditary bleeding diathesis. Thirteen of them were referred from outpatient clinics such as ENT, Medical, Orthopaedics and Dental for laboratory tests because they volunteered a history of disproportionate bleeding after injury or spontaneously; 16 had been admitted to the wards for management of a bleeding episode and thereafter were investigated. Eight others, two being Asians, were referred from peripheral and neighbouring hospitals for laboratory tests to define the aetiology of their bleeding tendency. Two of the remaining five were previously known cases and three were studied because their relatives were "bleeders". Biostatistical data and a bleeding history were recorded in all the cases where the information was available. The most frequent complaint was spontaneous bleeding which included haemarthroses - 15 cases; epistaxis - eight cases; intramuscular haematoma three cases; recurrent intraocular haemorrhage that was later shown to be associated with Factor X deficiency - one case; repeated bleeding from the gums - two cases. Some others were due to traumatic haemostatic challenges which comprised excessive bleeding from minor cuts - 17 cases; after circumcision - two cases. Five of the patients were either already known cases or had relatives with confirmed haemorrhagic disease. One case was diagnosed during a major surgical operation after a road traffic accident. Of these 42 patients, 13 had a positive genealogical history; seven of the 13 were members of three families. Six did not have any other member of the family studied in spite of a positive history. Thus, 29 patients had no evidence of a familial bleeding disorder as assessed from the history. The implications of this will be discussed below. LABORATORY STUDIES
The initial tests performed on all cases were in the form of a six-test coagulation screening. (I) Bleeding time (Ivy's method in all subjects above one year of age or Duke's method in infants); (2) one-stage Quick's prothrombin time using local brain thromboplastin which is standardized against the British Comparative Thromboplastin; (3) kaolin cephalin clotting time (KCCT) using the platelet substitute from Diagen or plate lin from "General Diagnostics"; (4) thrombin cloning time using the Parke-Davis reagent; (5) platelet count by the Coulter Electronics
Tropical Doctor, April I97()
Table
I.
HEREDITARY BLEEDING DISORDERS
Haemostatic values in the investigated patients Normal laboratory values
Parameter
Bleeding time (in minutes) Prothrombin time (in seconds) KCCT (in seconds) Thrombin time (in seconds) Platelet count per mm"
Bleeding disorder
Values in patients (mean and range)
13·3 (12'0 - 15'0)
Haemophilia and Christmas disease VWD All disorders excluding Factor X deficiency
3·2 (2'0 - 6'5) 12·3 (7,5 - 200) 15·0 (12'0 - 18'0)
39·5 (35,0 - 45'0) 10·0 (9,0 - 11'0)
All disorders except in Glanzmann's disease All disorders
84·0 (51'0 - 130'0) 10·7 (9,0 - 12'5)
190,000 (100,000 - 400,000)
All disorders
318,000 (145,000 - 810,000)
4·0 (3'0 - 7'0)*
*All the values in brackets are ranges.
6
6
6
J.K.
SW.
OW.
PROPOSITI DMALE
OFEMALE
IIMALE HAEMOPHILIAC
(J)FEMALE CARRIER
tOECEASED
----------------------------------------
