Anjali Shankar1, Siddharth Gosavi2, Tracey Austin Anne3, Anjitha Uthamarajan Nair4
A 26-year-old male presented to general medicine department on 16th March 2020
with complaints of 3 episodes of epistaxis for 2 days. The epistaxis was
spontaneous, sudden in onset, recurring in nature, copious in amount, not relieved
on its own. No history of nasal trauma, head injury, fever, joint pain, cough,
breathlessness, difficulty in swallowing, pain abdomen, haematuria, rashes. No
history of bleeding diathesis from any other site. Past history revealed similar
complaints of nasal bleeding for past 2 - 3 months for which he used to get
admitted and administered platelets transfusions after which the symptoms used
to subside. No history of any bleeding disorders or other comorbidities. Family
history revealed that the younger brother is a known case of Bernard-Soulier
syndrome diagnosed at the age of 15 years. Drug history was insignificant. Based
on patient’s presentation and family history, a congenital bleeding disorder was
considered as provisional diagnosis. On clinical examination pallor was observed
in lower palpebral conjunctiva and dorsum of tongue and crusts were present in
nose. Moderate splenomegaly was also observed.
His laboratory data revealed presence of microcytic hypo-chromic anaemia
with hyponatremia, with prolonged bleeding time, normal clotting time and
coagulation time. Complete blood count revealed severe microcytic hypochromic
anaemia (haemoglobin - 5.8 gram / decilitre) (Figure 1) and giant platelets (Figure
2). Bleeding time was 12 minutes and clotting time was 8 minutes. Factor VIII
levels were normal in the patient. Prothrombin time was prolonged with 13.9
seconds. Liver function test revealed only hypoalbuminemia with no derangement
of liver enzymes. Renal function tests were normal. Serum electrolytes revealed
hyponatremia with 130 millimole / litre. Ultrasound abdomen and pelvis revealed
a heterogeneous focus which was noted in spleen with peripheral colour uptake
and necrotic areas within it suggesting of splenic abscess / splenic haematoma /
infarct. Contrast enhanced computed tomography of abdomen and pelvis revealed
mild splenomegaly with heterogeneous foci with peripheral colour uptake and
necrotic areas within it measuring 6.4 * 4.8 centimeters, areas were hypo dense
and few enlarged retroperitoneal lymph nodes noted in para-aortic region.
Computed tomography of brain plain was normal. Contrast enhanced computed
tomography of thorax was normal. Platelet function tests revealed normal
aggregation with adenosine diphosphate, collagen and arachidonic acid and
markedly reduced with ristocetin. Flow cytometry could not be assessed.
His clinical examination revealed findings suggestive of anaemia and
splenomegaly was also present with vital parameters within normal limits. He
underwent thorough work-up with working diagnosis of bleeding disorder under
evaluation.
