Glanzmann Thrombasthenia: A rare cause of

recurrent epistaxis in a young boy

Introduction:
Glanzmann Thrombasthenia is a qualitative disorder of
platelet function characterized by defective in vitro platelet
aggregation and lifelong bleeding tendency due to qualitative
or quantitative abnormalities of platelet Gp IIb-IIIa known as
integrin αIII b 3. It was first described by Dr.Eduard Glanzmann
in year 1918. The defective gene is located on long arm of
chromosome 17. Incidence is 1:1000000 with equal sex
predilection. Higher incidence is seen in regions with high
incidence of consanguinity.
Case Report:
A 4 years old muslim male child, Anjat Sama, born of a
consanguineous marriage, 2nd by birth order; presented to OPD
with complains of recurrent unprovoked nose bleeds; since last
2 years. Child was vitally stable on presentation but appeared
pail. So, he was admitted in pediatric ward.
Otorhinolaryngology reference was done and nasal packing was
done to control bleeding. Though the severity of bleeding
decreased; steady oozing continued along edges of sponges
along with tricking from nasopharynx. Detailed history revealed
similar episodes in past, though of lesser severity; 5 times in
past and twice blood was transfused in past. The initial routine
investigations that were sent; were inconspicuous; other than
low Hb of 5gm/dl. So, child was transfused 2 units of packed
cell volume. After 36 hours, once the bleeding stopped; nasal
packs were removed and anterior rhinoscopy and nasal
endoscopy was done; which showed widespread raw nasal
mucosa and no mass lesion or focal bleeders. CT scan of nose
and para nasal sinuses also failed to show any mass lesion.
The above findings prompted a search for possible
hematological disorders as cause of recurrent epistaxis. The
platelet count and platelet morphology on light microscopy was
normal. Prothrombin time and activated partial thromboplastin
time were normal. However the bleeding time was 13 minutes
(prolonged); favouring the diagnosis of platelet function
disorder. Meanwhile the child has epistaxis again; but this time
one platelet transfusion was done; to which the child
responded and bleeding stopped; thereby affirming the
probable diagnosis of platelet function disorder.
Child was referred to hematologist in Ahmedabad;
where ristocetin induced aggregation was done, which was
normal. Finally flow cytometric analysis showed deficiency of
gp IIb-IIIa ;the diagnosis of Glanzmann Thrombasthenia.
Discussion:
Glanzmann Thrombasthenia is an autosomal recessive
bleeding disorder of platelet function, characterized by
recurrent episodes of spontaneous bleeding or following minor
trauma. George et al, divided Glanzmann Thrombasthenia into
3 variants as:-
Type 1: Less than 5% of gp IIb-IIIa
Type 2: 5-20% of gp IIb-IIIa
Type 3: Normal amount of gp IIb-IIIa but functionally inactive.

Hemorrhagic symptoms occur only in patients

homozygous for gT mutation, whereas heterozygous condition
is mostly asymptomatic.
Sites of bleeding are clearly defined; purpura,
epistaxis, gingival hemorrhage and menorrhagia; GI bleeding
and hematuria are less common but sever manifestations.
Deep visceral hematomas are not seen here. Epistaxis is
common cause of severe bleeding, more common in childhood.
Bleeding tendency in gT, decreases with age. Post traumatic
and post-operative hemorrhages can be severe and pregnancy
and delivery presents a severe hemorrhagic risk.
Bleeding may not always be prevented with platelet
transfusion.
Prognosis excellent with good supportive care.

Management:
 Localized bleeding can be treated by limited measures
topical thrombin and antifibrinolytic agents. Epistaxis and
gingival bleeding can be controlled by nasal packing and
application of gel pack soaked in topical thrombin.
Menorrhagia can be controlled with platelet
transfusion and high dose progesterone.
Significant number of patients develop HLA specific
alloantibodies or gp IIb-IIIa isoantibodies which limit future
treatment. In there patients; an alternative approach is use of
recombinant factor VIIa, which enhances deposition of
platelets on sub endothelial matrix.
In few patients, with severe bleeding manifestation
allogenic bone marrow transfusion is warranted.

Conclusion:
Although, Glanzmann Thrombasthenia is a rare
bleeding disorder, one should be aware of this condition, while
evaluating a child with recurrent epistaxis with normal platelet
count. Communities should be educated on hazards of
consanguinity. Patients should be taught life style modification
and measures to avoid bleeding.