Glanzmann’s
Thrombasthenia: Report of A Case and Review of the Literature
Thamari Thankam1[*] and Ashnah John2
1-Department of Community Health Nursing, Cihan University-Erbil, Erbil,
Iraq.
2-2nd year MBBS Student, Panimalar Medical College, Chennai,
India.
ARTICLE DETAILS ABSTRACT
- Introduction
Platelets are a central component of many restorative physiological
processes, including hemostasis. During hemostasis, damaged
sub endothelium releases adhesive proteins (ie, collagen and thromboplastin)
and fibrinogen, which bind with aggregated platelets at the site of injury,
forming a platelet plug. Platelets then provide a surface and phospholipid
source for attachment of coagulation cofactors. Subsequent activation of the
coagulation pathways prompts fibrin attachment to activated platelets, creating
a thrombus. Any disruption in platelet function, whether acquired or inherited,
will generate bleeding.
Glanzmann’s thrombasthenia (GT) was first documented in 1918 by Dr.
Eduard Glanzmann, who described a novel platelet abnormality with defective
clot retraction and abnormal appearance on stained film, as “hereditary
haemorrhagic thrombasthenia” this syndrome is characterized by mucocutaneous
bleeding with a variable clinical presentation ranging from mild bruising to
severe and potentially fatal haemorrhages. [ [1,5-6,8]. Glanzmann
thrombasthenia (GT) is a rare autosomal recessive disorder characterized by a
deficiency or functional defect of platelet glycoprotein (GP) IIb/IIIa, which
mediates aggregation of activated platelets by binding the adhesive proteins,
fibrinogen, Von Willebrand factor (VWF) and fibronectin.[2] GT is rare, with an
incidence of approximately 1:1 million, although this is much higher in areas
where marriage between close family relatives is common [3,6] United States as
those affecting less than 200,000 individuals. The exact incidence has been
difficult to calculate, but is estimated at one in 1,000,000. With an autosomal
recessive inheritance, males and females are affected equally. [4,6-7]. The common clinical manifestations are epistaxis, gum
bleeding, and menorrhagia.[7].
Despite its rarity, it has gained attention since the discovery of its
pathophysiology, due to the consequent development of antiplatelet agents now
commonly used during percutaneous coronary interventions in this report, we describe a case of Glanzmann’s thrombasthenia and
review the current literature. Finally, I would like to tell the patient after
a treatment his general condition is better, and also, he accepted his
diagnosis and he is ready to receive the treatment until his lifetime.
- Patient Description
My
patient’s name is Mr. Anto Ronal, he is 22-year-old, he is a student, As well
as he is working part time. his father and mother were
a Thalassemia. He is having 12 brother and sisters. 8 males and 4 females, he
is the 6th child in his family. In his family except father and
mother 4 children they had diagnosis of Thalassemia. But no
one is not having these problems of GT. No family history of these
diseases.
- Case History
The
patient was 22-year-old male who presented with fever, shortness of breath and
fatigue. He had a long clinical history of easy and spontaneous bruising,
excessive bleeding with tooth extractions, severe epistaxis as a child, when he
was 13-year-old. There was no family history of easy bruising or excessive
bleeding. During hospitalization the patient became hypotensive but responded
successfully to treatment. However, the epistaxis was persistent and no origin
was found.
- Physical
Examination
The patient
with GT present with signs of purpura and bleeding. The initial physical
examination focused on assessing hemodynamic stability. When he was severe
bleeding from the nose hemodynamically unstable. Apart from that the physical
examination findings are limited use only.
- Result
of Pathological Test & other investigation
The disorder is caused by deficiency or abnormality of the platelet
glycoprotein IIb and/or IIIa. For my patient a normal platelet count on a
routine blood smear does not rule out a diagnosis of GT, as patients with GT
usually show no abnormalities in the platelet count. The prothrombin time and activated partial
thromboplastin time will also be normal. However, the bleeding time will be prolonged, (12
minutes) which warrants further investigation.
Light transmission aggregometry (LTA) is widely
accepted as the gold standard diagnostic tool for assessing platelet function
(<10%). Platelet Function Analyzer (PFA) is a highly sensitive test for
detecting GT. The PFA assay uses collagen + ADP- and collagen +
epinephrine-embedded cartridges to mimic a damaged vessel endothelium. As
citrated whole blood flows at a high shear stress rate through these
cartridges, platelets bind, creating a platelet plug. The PFA assay is
prolonged among patients with GT. For my patient it was 100. Flow cytometry can
be beneficial, as GT includes glycoprotein receptor deficiency and/or dysfunction.
It was (<20%) GPIIb and GPIIIa. Apart from this
investigation the doctor was tend to do DNA study also.
Overall, the diagnosis of GT includes the presence
of normal platelet count (typically on the lower end of normal), prolonged
bleeding time, and prolonged PFA time. Platelets fail to aggregate under the
conditions utilized in LTA, which is uniquely indicative of GT.
- Treatment Plan
The treatment plan for Glanzmann thrombasthenia
aims to manage and prevent bleeding episodes, improve platelet function, and
maintain overall health. Platelet
transfusions are the standard treatment for bleeds in GT that remain refractory
to local measures and/or antifibrinolytic drugs, but this treatment may result
in the development of antibodies to glycoprotein IIb–IIIa and/or HLA, rendering
further transfusions ineffective.
But my patient every month used to receive platelet
transfusion and 3 months once he receives Red blood Cell transfusion, and also,
he was receiving Injection Novaseven and tablet Tranexamic Acid when he was
having bleeding.
Apart from this he needs supportive care, regular
check-up, genetic counseling, psychological support, should avoid certain
medication like NSAID and anticoagulant, and teaching about the emergency plan
for unexpected bleeding.
On the other hand, he can complement the standard
treatment plan for Gene therapy, Bone marrow Transplantation, Novel Therapies
(such as small molecule inhibitors or monoclonal antibodies targeting specific
pathways involved in platelet function and clot formation), and
Platelet-targeted Therapies, etc…
- Expected outcome of the treatment plan
The treatment plan for Glanzmann thrombasthenia, a
rare inherited bleeding disorder, typically aims to manage and prevent bleeding
episodes, with proper management and adherence to the treatment plan,
individuals with Glanzmann thrombasthenia can lead relatively normal lives with
reduced risk of bleeding complications. However, the severity of the condition
can vary, and the effectiveness of treatment may differ from person to person.
Regular communication with healthcare providers is essential for optimal
outcomes.
- Actual Outcome
The actual outcome of Glanzmann thrombasthenia
varies from person to person and depends on several factors, including the
severity of the condition, the effectiveness of treatment, and individual
response to therapy. Overall, while Glanzmann thrombasthenia poses challenges
for affected individuals, advancements in medical care and supportive therapies
have improved outcomes and quality of life for many patients. However, it's
important for individuals with Glanzmann thrombasthenia to work closely with
healthcare providers to develop a personalized treatment. plan
and receive ongoing support and management.
- References
1.
Christopher
Sebastiano, Michael Bromberg, Karen Breen, Matthew T. Hurford, “Glanzmann’s
thrombasthenia: report of a case and review of the literature”. Int J Clin Exp
Pathol 2010;3(4):443-447
2.
Massimo
F., Emmanuel F., Giuseppe L. “Glanzmann thrombasthenia clinical management”
Clinica Chimica Acta”, Volume 4, Issues 1-2, 2010, Elsevier, Page 1-6
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Poon,1* Roseline d’Oiron,2* Rainer B. Zotz,3* Niels Bindslev,4* Matteo Nicola
Dario Di Minno,5,6* and Giovanni Di Minno5* The international, prospective Glanzmann Thrombasthenia Registry:
treatment and outcomes in surgical intervention haematologica | 2015; 100(8
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Perez Botero,1 Kristy Lee,2 Brian R Branchford,3 Paul F Bray,4 Kathleen
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Mathews1 Georges-Etienne Rivard2 Arnaud Bonnefoy, Glanzmann Thrombasthenia:
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