Idiopathic Myelofibrosis Flashcards
What is Idiopathic Myelofibrosis?
Healthy bone marrow is replaced by fibrosis, resulting in a lack of production of normal cells
What is the underlying cause of idiopathic myelofibrosis?
The underlying cause is unknown, but it is associated with mutations in the JAK2, CALR, or MPL genes
What are the main clinical presentations of idiopathic myelofibrosis?
(1) asymptomatic cases
(2) marrow failure (leading to anaemia, bleeding, and infection)
(3) splenomegaly (causing LUQ abdominal pain)
(4) extramedullary hematopoiesis (in the liver and spleen)
(5) Additionally, patients may experience night sweats, extreme weight loss, and gout
What physical exam findings might suggest idiopathic myelofibrosis?
Physical exam findings include splenomegaly (which can cause LUQ abdominal pain) and signs of extramedullary hematopoiesis
What is a common feature in the blood film of patients with idiopathic myelofibrosis?
A characteristic leukoerythroblastic film is often seen, which includes teardrop-shaped RBCs and the presence of immature white blood cells and nucleated red blood cells
What is a typical bone marrow finding in idiopathic myelofibrosis?
dry tap during aspiration
What complications are commonly associated with idiopathic myelofibrosis?
(1) splenomegaly (which can cause LUQ abdominal pain and portal hypertension)
(2) marrow failure (resulting in anaemia, bleeding, and infections)
(3) extramedullary hematopoiesis (in the liver and spleen)
What are the main management strategies for idiopathic myelofibrosis?
(1) Supportive care (blood transfusions, platelets, and antibiotics)
(2) Sllogenic stem cell transplantation in selected patients
(3) Splenectomy (though controversial),
(4) Use of JAK2 inhibitors like ruxolitinib
What is the significance of a dry tap during bone marrow aspiration in idiopathic myelofibrosis? What is the importance of a dry tap during bone marrow aspiration in idiopathic myelofibrosis?
A dry tap during bone marrow aspiration occurs due to the replacement of normal bone marrow with fibrous tissue, making aspiration difficult. This is a key finding in idiopathic myelofibrosis
What is the prognosis of myelofibrosis?
The mean survival is 4-5 years
What is the cardinal sign of myelofibrosis?
marked splenomegaly
What blood film abnormality would you expect to see in a patient with myelofibrosis?
Poikilocytes
= tear-shaped red blood cells
The patient presents with clinical features and investigation findings suggestive of myelofibrosis, a cause of acquired pancytopenia
What is the best diagnostic investigation for this diagnosis ?
Bone marrow biopsy
An 80-year-old female complains of progressive tiredness over the past 5 months. She denies any history of anaemia, no black stools, and no fresh blood per rectum. She maintained a good appetite although has lost 8 kg of weight during this time frame. Bloodwork reveals pancytopenia, normal renal function and otherwise normal biochemistry profile.
What is the next appropriate step and management? and why isn’t it a bone marrow biopsy?
Blood film
= A bone marrow biopsy will likely be needed if true pancytopenia is found
A 63-year-old man presents with fatigue and weight loss. Blood tests reveal normochromic normocytic anaemia and thrombocytopenia. On examination, he has hepatosplenomegaly. Bone marrow biopsy shows fibrosis and abnormal megakaryocytes.
What is the most likely diagnosis?
Myelofibrosis
