A Rare Case of Bleeding Disorder: Glanzmann’s Thrombasthenia

2021 ◽  
Vol 8 (3) ◽  
pp. 115-118
Author(s):  
Dr. Sanjay Chavan ◽  
Dr. Karthik Kolkur ◽  
Dr. Darshita Shukla ◽  
Dr. Sharad Agarkhedkar
Keyword(s):  
Supportive Care ◽  
Autosomal Recessive ◽  
Bleeding Time ◽  
Young Female ◽  
Bleeding Disorder ◽  
Glanzmann’S Thrombasthenia ◽  
Prolonged Bleeding Time ◽  
Glanzmann's Thrombasthenia ◽  
History Of

Glanzmann’s thrombasthenia is an extremely rare autosomal recessive inherited bleeding disorder characterized by defective platelet aggregation leading to prolonged bleeding time. Patients may present with easy bruising, purpura, epistaxis, menorrhagia and gingival bleeding. Though the disease is rare, the prognosis is usually excellent with supportive care. Here, we report the case of Glanzmann’s thrombasthenia in a young female who presented with complaints of epistaxis and a history of easy bruising. The patient improved with symptomatic and supportive care. The patient got discharged and is doing well under regular follow-up.

scholarly journals Glanzmann's Thrombasthenia: A rare platelet functional disorder

2021 ◽  
Vol 15 (2) ◽  
pp. 103-105
Author(s):  
Muhammad Kamruzzaman ◽  
Mohammad Iqbal Hossain ◽  
Mohammad Ashiqur Rahman ◽  
Sharifunnesa
Keyword(s):  
Supportive Care ◽  
Platelet Function ◽  
Platelet Transfusion ◽  
Autosomal Recessive ◽  
Good Prognosis ◽  
Bleeding Disorder ◽  
Functional Disorder ◽  
Glanzmann Thrombasthenia ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia

Glanzmann's Thrombasthenia (GT) is a rare inherited autosomal recessive platelet functional disorder. Due to the deficiency of platelet function, it manifests as a bleeding disorder characterized by mucocutaneous hemorrhage of varying severity. It is difficult to diagnose as it closely mimics with others bleeding disorder, so it can be diagnosed after investigations & exclusion of others. Treatment is supportive care with platelet transfusion & proper counseling. With careful supportive care, GT has a very good prognosis. In this report, we describe a 13 years old female with Glanzmann Thrombasthenia. Faridpur Med. Coll. J. 2020;15(2): 103-105

scholarly journals Glanzmann’s thrombasthenia: a rare bleeding disorder in a Nigerian girl

2020 ◽  
Vol 20 (2) ◽  
pp. 753-757
Author(s):  
Osita U Ezenwosu ◽  
Barth F Chukwu ◽  
Ndubuisi A Uwaezuoke ◽  
Ifeyinwa L Ezenwosu ◽  
Anthony N Ikefuna ◽  
...  
Keyword(s):  
Past History ◽  
Fresh Frozen Plasma ◽  
Bleeding Disorder ◽  
Case Presentation ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
The Usa ◽  
Fresh Frozen ◽  
History Of ◽  
Treatment Facilities

Introduction: Glanzmann’s Thrombasthenia (GT) is a rare autosomal recessive bleeding disorder due to defective platelet membrane glycoprotein GP IIb/IIIa (integrin αIIbβ3). The prevalence is estimated at 1:1,000,000 and it is commonly seen in areas where consanguinity is high. Case Presentation: The authors report a 12 year old Nigerian girl of Igbo ethnic group, born of non-consanguineous parents, who presented with prolonged heavy menstrual bleeding which started at menarche 3 months earlier, weakness and dizziness. She had a past history of recurrent episodes of prolonged epistaxis, gastrointestinal bleeding and gum bleeding during early childhood. On examination, she was severely pale with a haemic murmur and vaginal bleeding. The initial diag- nosis was menorrhagia secondary to bleeding diathesis possibly von Willebrand’s Disease. She was on supportive treatment with fresh whole blood, fresh frozen plasma and platelets until diagnosis of GT was made in the USA. Currently, she is on 3 monthly intramuscular Depo-provera with remarkable improvement. Conclusion: To the best of our knowledge, this is the first documented report of GT in our environment where consan- guinity is rarely practised. Our health facilities require adequate diagnostic and treatment facilities for rare diseases like GT. Keywords: Glanzmann’s thrombasthenia; Menorrhagia; Nigerian girl.

Eine neue Blutersippe mit v. Willebrand-Jürgens'scher Krankheit (erbliche Thrombopathie) auf Åland (Finnland)

1961 ◽  
Vol 10 (2) ◽  
pp. 157-180 ◽  
Author(s):  
Aldur W. Eriksson
Keyword(s):  
Autosomal Recessive ◽  
Bleeding Time ◽  
Segregation Ratio ◽  
Bleeding Disorders ◽  
Mendelian Segregation ◽  
Prolonged Bleeding Time ◽  
Plasma Factor ◽  
Coagulation Tests ◽  
History Of ◽  
Von Willebrand

SUMMARYAnother family in the Åland archipelago (Fennoscandia) suffering from a hemorrhagic disorder (von Willebrand-Jürgens' disease, heredi tary constitutional thrombopathie) is described. This family, so far the largest in the literature, has many common ancestors with the original bleeder families on Åland described in 1926 by v. Willebrand. Of the more than 1300 kindred traced genealogically, 132 (71 women and 61 men) in the five most recent generations have had manifest bleeding disorders in their medical history. Of the ca. 450 living relatives of this family 211 could be examined, and of these 56 females and 50 males were confirmed to be bleeders anamnestically, clinically or, and hematologically. Several cases were analysed exhaustively by modern coagulation tests. The clinical and laboratory hemostatic findings varied widely both inter- and intra-individually. Some patients showed a partial lack of a plasma factor (AHG) coupled with a qualitative platelet defect. Other patients of this family without bleeding disorders had a markedly prolonged bleeding time. The vascular disturbances also vary widely. The consanguinity in this pedigree is unusually high. The autosomal recessive in heritance are discussed. According to the mendelian segregation ratio, a not sex-linked, dominant transmission of the hemmorrhagic diathesis was in question. I has been possible to observe the hemostatic disturbances in 4-5 generations. The penetration of the gene is high, the expressiveness is unsteady.

Glanzmann’s Thrombasthenia

1981 ◽  
Vol 46 (04) ◽  
pp. 717-721 ◽  
Author(s):  
U Khanduri ◽  
R Pulimood ◽  
A Sudarasanam ◽  
R H Carman ◽  
M Jadhav ◽  
...  
Keyword(s):  
Bleeding Time ◽  
Bleeding Tendency ◽  
Clot Retraction ◽  
College Hospital ◽  
Medical College ◽  
Glanzmann’S Thrombasthenia ◽  
Prolonged Bleeding Time ◽  
Glanzmann's Thrombasthenia ◽  
Laboratory Procedures ◽  
High Degree

SummaryIn the 14 year period from June, 1966 to June, 1980, 42 cases of Glanzmann’s thrombasthenia have been diagnosed, all fulfilling the criteria of prolonged bleeding time, with normal venous platelet count, defective clot retraction and decreased platelet aggregation, associated with a lifelong bleeding tendency. Few cases have been reported from India though it is the fourth most common congenital bleeding disorder among the patients seen at the Christian Medical College Hospital, Vellore. The large number of such cases found in South India as compared with reports from other parts of the world may be due to the high degree of consanguinity which is part of the accepted culture in this area. Reliable diagnosis of this condition is possible with fairly simple laboratory procedures.

Detection of Carriers in Glanzmann's Thrombasthenia

1983 ◽  
Vol 49 (03) ◽  
pp. 182-186
Author(s):  
G T E Zonneveld ◽  
E F van Leeuwen ◽  
A Sturk ◽  
J W ten Cate
Keyword(s):  
Bleeding Time ◽  
Periodic Acid ◽  
Type I ◽  
Clot Retraction ◽  
Periodic Acid Schiff ◽  
Glanzmann’S Thrombasthenia ◽  
Aggregation Response ◽  
Glanzmann's Thrombasthenia ◽  
Sds Page ◽  
Reduced State

SummaryQuantitative glycoprotein (GP) analysis of whole platelets or platelet membranes was performed by SDS-polyacrylamide gelelectrophoresis (SDS-PAGE) and periodic acid Schiff staining in the families of two unrelated Glanzmann’s thrombasthenia (GT) patients. Each family consisted of two symptom free parents, a symptom free daughter and a GT daughter. All symptom free members had a normal bleeding time, clot retraction and platelet aggregation response to adenosine 5’-diphosphate (ADP), collagen and adrenalin. Platelet Zw* antigen was normally expressed in these subjects. GT patiens, classified as a type I and II subject, showed reduced amounts of GP lib and of GP nia. Analysis of isolated membranes in the non-reduced state, however, showed that the amount of GP Ilia was also reduced in three of the four parents, whereas one parent (of the GT type I patient) and the two unaffected daughters had normal amounts of GP Ilia. Quantitative SDS-PAGE may therefore provide a method for the detection of asymptomatic carriers in GT type I and II.

A Case Report on Glanzmann’s Thrombasthenia: A Rare Platelet Function Disorder

2018 ◽  
Vol 2 (02) ◽  
pp. 59-60
Author(s):  
Farida Yasmin ◽  
Md. Anwarul Karim ◽  
Chowdhury Yakub Jamal ◽  
Mamtaz Begum ◽  
Ferdousi Begum
Keyword(s):  
Case Report ◽  
Platelet Function ◽  
The Body ◽  
Presenting Symptoms ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Platelet Function Disorders ◽  
Recurrent Epistaxis ◽  
Severe Epistaxis ◽  
History Of

Epistaxis in children is one of the important presenting symptoms for attending emergency department in paediatric patients. Recurrent epistaxis is common in children. Although epistaxis in children usually occurred due to different benign conditions, it may be one of the important presenting symptoms of some inherited bleeding disorder. Whereas most bleeding disorders can be diagnosed through different standard hematologic assessments, diagnosing rare platelet function disorders may be challenging. In this article we describe one case report of platelet function disorders on Glanzmann’s thrombasthenia (GT). Our patient was a 10-year old girl who presented to us with history of recurrent severe epistaxis. She had a bruise on her abdomen and many scattered petechiae in different parts of the body. Her previous investigations revealed no demonstrable haemostatic anomalies. After performing platelet aggregation test, she was diagnosed as GT.

Congenital Hemorrhagic Disorders in Jordan

1984 ◽  
Vol 51 (03) ◽  
pp. 331-333 ◽  
Author(s):  
Abdalla S Awidi
Keyword(s):  
Factor Xiii ◽  
Hemophilia A ◽  
Factor Xiii Deficiency ◽  
Factor Xi Deficiency ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Fatal Hemorrhage ◽  
Hemorrhagic Disorders ◽  
History Of ◽  
Storage Pool Disease

SummaryThe results of a three year prospective study of inherited bleeding syndromes in Jordan is presented. There were 112 patients from 64 families. Of these there were 42 patients with hemophilia A, 23 with Glanzmann’s thrombasthenia, 22 with von Willebrand’s disease, 11 with Christmas disease, 6 with hypofibrinogenemia, 3 with afibrinogenemia, 2 with factor XIII deficiency, 2 with storage pool disease and 1 with factor XI deficiency. The pattern of inherited bleeding syndromes in Jordan is different from that seen in Europe and U.S.A. in that Glanzmann’s thrombasthenia is very common. High proportion of hemophiliacs were severe. Arthropathy was common. A significant number of bleeders had fatal hemorrhage. In a high proportion of patients, no family history of bleeding was found.

scholarly journals Normal synthesis and expression of endothelial IIb/IIIa in Glanzmann's thrombasthenia

Blood ◽  
1987 ◽  
Vol 69 (3) ◽  
pp. 809-812 ◽  
Author(s):  
JC Giltay ◽  
OC Leeksma ◽  
C Breederveld ◽  
JA van Mourik
Keyword(s):  
Endothelial Cells ◽  
Membrane Protein ◽  
Protein Complex ◽  
Autosomal Recessive ◽  
Umbilical Vein ◽  
Platelet Glycoprotein ◽  
Membrane Protein Complex ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Umbilical Vein Endothelial Cells

Abstract Glanzmann's thrombasthenia is a bleeding disorder, inherited in an autosomal recessive way and characterized by an absence or deficiency of the platelet glycoprotein (GP) IIb/IIIa complex. Recently, we and others demonstrated that cultured human umbilical vein endothelial cells synthesized a membrane protein complex similar to the platelet GP IIb/IIIa complex. In this article, we demonstrate that endothelial cells isolated from the umbilical vein of a newborn with Glanzmann's thrombasthenia, as compared with normal endothelial cells, show no difference in their ability to synthesize and express this GP IIb/IIIa complex. Our results indicate that Glanzmann's thrombasthenia is not accompanied by an “endotheliopathy.”

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