FM DECEMBER 2018 ISSUE - digital edition

intermarriages are common. Ramana came
from a family where intermarriages are
rampant, and both his parents had a single
copy of the ITGB3 mutation and are carriers
for the disorder. Unfortunately for Ramana,
he received two copies of the mutant gene,
one from his father and the other from
his mother, and consequently suffers from
Glanzmann thrombasthenia.
There are no known cures for such
platelet formation disorders. However,
Glanzmann thrombasthenia has a good
prognosis if the patient is provided with
careful supportive care. Local hemostatic
procedures, such as compression and
gelatin sponges, followed by anti-fibrinolytic
drugs or platelet transfusions work well for
management of minor to moderate bleeding,
as in this case. Recently, recombinant factor
VIIa (rFVIIa) has been shown to be effective
in treating and preventing hemorrhages
THE BOY’S PARENTS HAD A
SINGLE COPY OF THE
ITGB3 MUTATION AND
ARE CARRIERS FOR
GLANZMANN
THROMBASTHENIA
in Glanzmann thrombasthenia patients.
However, considering the economic status of
the family, platelet transfusion was adjudged
the most cost-effective treatment in this
case. Ramana is currently undergoing platelet
transfusions as and when needed and has
been coping well with his condition for the
past few months. He has been advised
against contact sports and the use of aspirin
and non-steroidal anti-inflammatory drugs
as these affect platelet function. He has also
been told to maintain good oral hygiene to
avoid bleeding gums. These management
concepts, while critical to avoid bleeding
episodes, are not a cure for the disorder,
which will continue to impact Ramana’s
lifestyle until a suitable cure is found.
DR SHIVANEE SHAH
DECEMBER 2018 / FUTURE MEDICINE / 43