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Major takeaway
Essential thrombocythemia is characterized by thrombopoietin-independent
proliferation
A 68-year-oldofmale
megakaryocytes
comes to his and platelets.office
provider’s Patients
for may presentofwith
evaluation fatigue,
thromboembolic events,
weakness, and 8 kg (17.6 recurrent fetal loss, and
lb) unintentional constitutional
weight loss over symptoms.
the past 2
Peripheral
months. blood smear
Moreover, the will showreports
patient increased platelet
feeling count and
bloated afterbone marrow
eating small
biopsy willofshow
quantities foodmegakaryocyte
during this sameproliferation.
time period. His past medical history is
notable for hypertension, and the patient is currently taking
hydrochlorothiazide. Physical exam reveals oral mucosal pallor. Cardiac and
Main explanation
pulmonary exams are non-contributory. Abdominal exam reveals
hepatosplenomegaly. Laboratory testing results are as follows:  
This patient has essential thrombocythemia. It is a myeloproliferative
 
neoplasm wherein megakaryocytes and platelets are produced in the
 Laboratory
absence value 
of thrombopoietin,  Result 
a hormone secreted by the liver and kidneys to
 Hemoglobin 
promote platelet production. The disease is 9.5
most g/dL 
often caused by Janus
Kinase 2, MPL, or Calreticulin gene mutations.
 Hematocrit   
 28.5% 
 Leukocytes   2,700/mm3 
Patients may experience thromboembolic events or recurrent fetal loss due
 Platelets 
to  100,000/mm3 
a hypercoagulable state. In addition, patients may experience
constitutional symptoms such as fatigue and headaches. In extreme cases,
Biopsy of the bone
when platelet countmarrow
exceedsbiopsy shows increased
1.5 million/mm3, fibrosis
patients can beand reduced cell
at increased
count. Polymerase
risk of bleeding. Thischain reaction
is because testing reveals
the platelets consumeasomutation
much in a gene
encoding for a non-receptor
von Willebrand tyrosine
factor that not enoughkinase. Whichatofthe
is available the following
injury site.    diseases
is also caused by an identical mutation?
 The work-up for essential thrombocythemia includes getting a complete
blood count,
Elimination toolperipheral blood smear, bone marrow biopsy, and
genetic testing. Peripheral blood smear will show an elevated platelet count.
Bone marrow biopsy will show megakaryocytes proliferation and
A. Fanconi anemia
genetic testing will often confirm the presence of a mutation (e.g. JAK2).  
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Patients should be given low-dose aspirin to prevent thromboembolic
events. Patients at high risk for arterial or venous thrombosis should be
treated with cytoreductive therapies such as hydroxyurea, anagrelide, or
B. Acute myeloid leukemia
pegylated interferon.  
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C. Follicular lymphoma

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