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Glanzmann's Thrombasthenia with Mild Von Willebrand's Disease J Clin Pathol: First Published As 10.1136/Jcp.46.12.1134 on 1 December 1993

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Glanzmann's Thrombasthenia with Mild Von Willebrand's Disease J Clin Pathol: First Published As 10.1136/Jcp.46.12.1134 on 1 December 1993 1343 Clin Pathol 1993;46:1134-1136 Glanzmann's thrombasthenia with mild von Willebrand's disease J Clin Pathol: first published as 10.1136/jcp.46.12.1134 on 1 December 1993. Downloaded from R Nounou, D Spence Abstract Willebrand's disease is the commonest and A Saudi Arabian family is reported in most heterogeneous congenital haemostatic which Glanzmann's thrombasthenia and disorder, with variable severity, and arising von Willebrand's disease occurred from quantitative or qualitative deficiency of simultaneously. The daughter presented the adhesive glycoprotein, von Willebrand with menorrhagia and gave a history of factor. gastrointestinal bleeding and a strong family history of bleeding disorder. Full haematological investigations were per- Case report and family history formed on the propositus, parents, and A 14 year old girl was referred with a history siblings, including complete blood count, of severe menorrhagia at menarche, requiring bleeding time, prothrombin time, partial multiple blood transfusions. She had also thromboplastin time, factor VIH:C, von required transfusion for gastrointestinal Willebrand factor, ristocetin cofactor, bleeding when she was 8 years old. She gave platelet aggregometry, platelet glycopro- a history of bleeding after dental extraction, tein lb and IIbIIIIa and platelet antigen not severe enough to require blood trans- PLT-1 (Coulter Clone). The propositus fusion. When first seen she was iron deficient, had Glanzmann's thrombasthenia, both but not bleeding, having received hormonal parents had mild von Willebrand's dis- treatment at the referring hospital to suppress ease and were carriers of Glanzmann's menstruation. thrombasthenia. Three symptomatic The patient's parents are first cousins and brothers had both Glanzmann's throm- have six sons and one daughter (the proposi- basthenia and von Willebrand's disease; tus). The father, aged 43, had never experi- two asymptomatic brothers had von enced any bleeding abnormality but two of Willebrand's disease only and one had his brothers had died of severe bleeding after completely normal results. Those family circumcision and another brother and a sister members with were both diseases more died of "oral bleeding" in childhood. The http://jcp.bmj.com/ severely affected than those with just one mother, aged 32, had heavy menstrual disease. periods and experienced spontaneous bruises In areas where consanguineous mar- on the legs. When 15 years old, she had riage is common, such as Saudi Arabia, prolonged bleeding after tooth extraction, but multiple haemostatic abnormalities may no blood transfusion was required. She gave a occur, and investigation should not stop history of prolonged postpartum haemor- with the discovery of a single abnormal- rhage when she delivered her daughter. The on October 2, 2021 by guest. Protected copyright. ity. The increased clinical severity of rest of her deliveries had been normal. She bleeding, including haemarthroses, in had no family history to suggest a familial those patients having both congenital bleeding diathesis. Three of the patient's defects emphasises the importance of brothers were symptomatic, all with sponta- von Willebrand factor in glycoprotein neous bruising, and two had haemarthroses Ib-mediated platelet adhesion. of the knees and ankles. All had required blood transfusion during bleeding episodes, (7 Clin Pathol 1993;46:1134-1136) mainly epistaxis. The other three brothers were apparently normal. Department of Glanzmann's thrombasthenia is a rare con- Pathology and genital disorder of platelet function associated Methods Laboratory Medicine, a King Faisal Specialist with a prolonged bleeding time, normal Duplicate bleeding times were performed on Hospital and Research platelet count, abnormal clot retraction and separate occasions on all the family members Centre, PO Box 3354., absent macroscopic platelet aggregation in using the Ivy method. Venous blood was Riyadh 11211, response to adenosine and Kingdom of Saudi 5'-diphosphate obtained for duplicate haematological investi- Arabia other platelet agonists.' 2 This has been gation, including complete count (CBC), R Nounou reported as relatively common in four popula- prothrombin time (PT), and partial thrombo- Department of tions-namely, French gypsies, Iraqi Jews, plastin time (PTT) performed by standard Oncology Indian people and Jordanian Arabs,3 probably methods. F VIII:C was assayed by a one stage D Spence as a consequence of consanguineous marriage technique using Universal Coagulation Correspondence to: Dr R Nounou increasing the incidence of autosomal reces- Reference Plasma (UCR) as a normal control Accepted for publication sive traits and thereby the likelihood of (coefficient of variation (CV) 5-2%). Von 1 June 1993 symptomatic homozygous subjects. Von Willebrand antigen (vWF:Ag) was measured Glanzmann's thrombasthenia with mild von Willebrand's disease 1135 Table 1 Haemostatic studies Platelet Family Age Bleeding PTT FVIII:C VWF.Ag RiCoF Platelet Platelet Gp IIblIIIa Clot members (years) (2-10 m)* (26-38 s)* (05-2p//ml) * (05-1p/lml) * (OS-1 pmiml)* PLT-1 Gp Ib complex retraction Diagnosis J Clin Pathol: first published as 10.1136/jcp.46.12.1134 on 1 December 1993. Downloaded from Propositus 14 >15 32 2-10 0-81 1-07 Type I Glanzmann's >15 33 1-68 075 1 11 1% 73% Absent Absent thrombasthenia >15 30 1-63 0-74 1-31 Father 43 4-5 29 0-93 0-63 0 44 Von Willebrand's 6 28 1-39 0-73 1-31 39% ND disease 5-5 28 1-34 0-49 0-62 101% 118% GT carrier Mother 32 14-5 27 0 70 0-37 0-34 Von Willebrand's 6-5 31 0 97 0 40 1 10 47% ND disease 7 30 1 01 040 0 53 99% 89% GTcarrier Brother (1) 13 5 37 0-74 0-25 0-75 ND ND ND ND Von Willebrand's >15 34 0-81 0 45 0-23 disease Brother (2) 19 >15 35 1-50 0 49 1-18 Type I Glanzmann's >15 33 1-03 0-33 0 55 5% 55% 5% Absent thrombasthenia and von Willebrand's disease Brother (3) 8 >15 38 1-46 0-52 1-07 1% 85% Absent Absent Type I Glanzmann's 14 34 0-71 0 43 0-53 thrombasthenia and von Willebrand's disease Brother (4) 7 8 32 1-81 0-75 1-46 ND ND ND ND Normal 5 32 1 00 0-62 1-53 Brother (5) 6 11 34 2-28 0-65 1-39 ND ND ND ND Von Willebrand's 5-5 33 0-63 0-42 0-83 disease Brother (6) 3 >15 33 1-81 0-48 1-05 11% Type II Glanzmann's >15 30 1-81 0-36 0-71 8% 24% Reduced thrombasthenia and von Willebrand's disease. Possibly BSS heterozygote *Normal range. by Laurell Rocket immunoelectrophoresis4 platelets responded to ristocetin (1-5 mg/ml) with UCR as a normal control (CV 7-12%), in a manner similar to that of his siblings. No and an abnormal control from Biodata was other family member had reduced glyco- also used. Ristocetin cofactor (RiCoF) was protein Ib concentrations. Pending extended measured using lyophilised platelets,5 UCR family studies, therefore, it cannot be being the normal control (CV 5-58%), with excluded that the brother (6) is a Bernard- the abnormal control being from Biodata. Soulier heterozygote in addition to the other Platelet aggregometry of platelet rich plasma inherited anomalies. (PRP)6 was performed using adenosine diphosphate (ADP) 1 ,umol/ml and 2 ,umol/ml, arachidonic acid 2-5 pg/ml, collagen Discussion 2 mg/ml and 4 mg/ml, and ristocetin 1 mg/ml The occurrence of both Glanzmann's throm- and 1-5 mg/ml. The platelet antigen PLT-1 basthenia and von Willebrand's disease in a http://jcp.bmj.com/ (Coulter Clone) and glycoproteins Ib and single family in which the parents are first IIb/IIIa complex were studied by flow cytom- cousins indicates that both parents carry the etry (EPICS, Coulter). thrombasthenia gene. Four of their seven children have this disease, and in addition they both carry an abnormal von Results Willebrand's gene which is mild in expression A summary of the haemostatic investigations and has been transmitted to some of their on October 2, 2021 by guest. Protected copyright. is given in tables 1 and 2. The propositus and sons. Being carriers for both diseases has brothers (2) and (3) have type I Glanzmann's allowed the expression of either disease in thrombasthenia. Brother (6) seems to have a some offspring or the simultaneous expres- less severe form, type II, and in addition to sion of both in others, reflecting the increased have reduced glycoprotein Ib, but blood chance of coinheritance of rare disorders in platelet morphology was normal, and his populations where consanguineous marriage Table 2 Platelet aggregation studies Aggregating agents ADP (mollml) Collagen (/mi) Arachidonic acid (mglml) Ristocetin (mglml) Dose 1 2 2 4 2-5 1 1-5 Propositus Absent Absent Absent Absent Absent Normal Normal Absent Absent Absent Absent Absent Normal Normal Father Normal Normal Normal Normal Normal Normal Normal Mother Absent Primary Normal Normal Normal Normal Normal wave Absent Primary Normal Normal Normal Normal Normal wave Brother (1) Normal Normal Normal Normal Normal Normal Normal Brother (2) Absent Absent Absent Absent Absent Present* Present* Brother (3) Absent Absent Absent Absent Absent Present* Present* Brother (4) Normal Normal Normal Normal Normal Normal Normal Brother (5) Normal Normal Normal Normal Normal Normal Normal Brother (6) Absent Absent Absent Absent Absent Present* Present* *Abnormal wave with the phenomenon of aggregation and disaggregation. 1136 Nounou, Spence is an accepted custom, as in Saudi Arabia. Bernard-Soulier syndrome, but also in detect- We have found no similar published descrip- ing the carrier states of these disorders. We tion of such an occurrence. found that PLT-1 antigen, a platelet- J Clin Pathol: first published as 10.1136/jcp.46.12.1134 on 1 December 1993.
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