Sajid Maqbool ( Present Address: Shaikh Zayed Hospital, Lahore. )
Muhammad Yaqoob ( Department of Paediatrics, King Edward Medical College, Lahore. )
Aqeel Haider ( Department of Paediatrics, King Edward Medical College, Lahore. )
Glanzmann\'s disease is a rare disorder of platelet function. Specifically, the problem is of defective platelet aggregation and impairment of platelet factor 3. The disease is transmitted in an autosomal recessive pattern and affected children present with bleeding manifestations consistent with quantitative platelet disorder.
An 11 years male, weighing 22 Kgms, presented with complaints of easy bruisability since birth and bleeding from gums. His problems started at the time of circumcision (age 11 days) when he bled for 24 hou.rs. Numerous episodes of skin bruises were noticed after this episode. An episode of haematuria at age 6 months and bleeding &om the mouth after being slapped by his father brought him to the hospital at 6 years at which time he was given blood transfusion. He has since then been bleeding from gums off and on and has been given thirteen blood transfusions with a diagnosis of haemophilia.
1) 1st boy died soon after birth due to unknown cause. He had generalized bruises and ecchymoses.
2) 2nd boy — now 11 — the patient.
3) 3rd boy — died at 18 days due to pneumonia (had bruises at birth).
4) 4th a girl, 7 years old — absolutely healthy.
5) 5th a girl, 5 years old — developed bruises and ecchymoses at birth that disappeared in 2 weeks — now bleeding from nose and gums off and on for the last 2 years.
6) female — 2 years old — born with bruises and ecchymoses which disappeared at 2 weeks — baby is in good health.
7) male — 5 months — absolutely healthy. Father and mother are first cousins.
There was no family history of bleeding disorder in any family member. Examination revealed a young thin lean boy oriented in time and space. Pulse, respiration, temperature and blood pressure were within normal limits. Significant findings included pallor, small discrete nodes palpable in neck, groin and bruises on left arm and right leg. Gums were bleeding and caries of teeth was obvious. X-ray of the chest was normal. Test for aggregation of platelets = Negative (no aggregation). Platelet factor 3 availability = Normal. All members of the family were subjected to investigations.Results are shown in Table.
Pedigree is depicted in Figure.
Bleeding from the gums, nose and petechiae point to platelet abnormality. Since the platelet num ber is adequate, this case represents a disorder of platelet function. Adhesion, aggregation and degranulation are three well-known functions of platelets and may result in the following well-recognized conditions:
I. Defective Adhesion:
1. Bernard-Soulier Syndrome
2. Von Willebrand’s Disease
II. Defective Aggregation:
1. Glanzmann\'s Thrombasthenia
III. Defective Degranulation:
1. Storage Pool Disease
2. Aspirin-like Defects
Glanzmann described in 19181, the condition which is characterized by prolonged bleeding time and failure of platelet aggregation. The platelets fail to aggregate in response to ADP, epinephrine, collagen, thrombin, 5HT,arachidonic acid & PGE2. About 80% of cases also show varying levels of impairment of platelet factor3-6.
The disease is transmitted as an autosomal recessive trait with consanguinity being a factor7,8. Carriers show no bleeding manifestations and demonstrate normal platelet function9,10 although platelet membrane glycoprotein analysis has been demonstrated to reveal abnormalities, the bleeding manifestations are similar to those present in other platelet disorder, i.e., - mainly mucosal haemorrhage and may even occur in the neonatal period4. Occasionally bleeding manifestations decrease with increasing age3. Local measures are often sufficient but major bleeding requires multiple platelet transfusions. It remains a rare disorder with only about 150 cases having been reported11.. Case reports have come from all over the world. Recently Kbanduri reported 42 cases from South India. Rare as it is, it remains one of the most common and dearly defined congenital qualitative platelet disorders12.
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3. Hardisty, R.M., Dormandy, K.M. and Hutton, R.A. Thrombasthenia studies on three cases. Br. J. Haematol., 1964;10 :371.
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10. Riechert, N., Seligsohn, U. and Ramot, B, Clinical and genetic aspects of Glanzmann\'s thrombasthenia in Israel—Report of 22 cases. Thrombos Diathes Haemorrh., 1975; 34:806.
11. Khanduri, U., Pulimood, R., Sudarsanam, A., Carman, R.H., Jadhav, M. and Pereira, S. Glanzmann\'s thrombasthenia. A review and report of 42 cases from south India. Thromb. Haemost., 1981;46 :717.
12. Lustier, J.M. and Barnhart, M.I. Congenital disorders affecting platelets. Semin. Thromb. Haemost., 1973;4 :123.