Case Study Case Study MICR 410 - HematologyMICR 410 - Hematology

Spring, 2011Spring, 2011

Case # 6Case # 6

Monique QuirozMonique Quiroz

Mike PehlMike Pehl

Andrew HoAndrew Ho

Case SummaryCase SummaryJohn, a 52-year-old man with hyperuricemia, was seen at the clinic for follow-up evaluation John, a 52-year-old man with hyperuricemia, was seen at the clinic for follow-up evaluation for splenomegaly. His palpable spleen, noted 18 months earlier, had been gradually for splenomegaly. His palpable spleen, noted 18 months earlier, had been gradually enlarging. Originally he denied fatigue, fever, and discomfort. He was examined and a enlarging. Originally he denied fatigue, fever, and discomfort. He was examined and a CBC was ordered. The results revealed leukocytosis, thrombocytosis, and anemia. CBC was ordered. The results revealed leukocytosis, thrombocytosis, and anemia.

Physical examination revealed a slightly enlarged liver and palpable spleen. Blood counts Physical examination revealed a slightly enlarged liver and palpable spleen. Blood counts showed:showed:

Hb:Hb: 11.6 g/dL11.6 g/dL MCV = 97 fl NormocyticMCV = 97 fl Normocytic

Hct:Hct: 35%35% MCHC = 33 NormochromicMCHC = 33 Normochromic

RBC:RBC: 3.6 x103.6 x101212/L/L LowLow

WBC:WBC: 26.2 x1026.2 x1099/L/L HighHigh

Platlets:Platlets: 853 x10853 x1066/L/L HighHigh

   The blood cell differential showed marked anisocytosis, poikilocytosis with many teardrops, The blood cell differential showed marked anisocytosis, poikilocytosis with many teardrops,

and numerous nucleated RBCs. Immature myeloid cells were found and large platelets.and numerous nucleated RBCs. Immature myeloid cells were found and large platelets. During subsequent visits John complained of fatigue, bone pain, abdominal pain and During subsequent visits John complained of fatigue, bone pain, abdominal pain and

discomfort.discomfort.

Diagnostic TestsDiagnostic Tests

Bone marrow biopsyBone marrow biopsy

--moderate to marked hyperplasia, clusters of platelets, abnormal moderate to marked hyperplasia, clusters of platelets, abnormal

megakaryocyte morphology, and fibrotic marrow spacesmegakaryocyte morphology, and fibrotic marrow spaces

-dry tap-dry tap

Cytogenetic analysisCytogenetic analysis

-trisomy 8-trisomy 8

Key Information Pointing to Key Information Pointing to DiagnosisDiagnosis

Physical ExaminationPhysical Examination SplenomegalySplenomegaly Bone PainBone Pain Weakness/fatigueWeakness/fatigue

Peripheral blood smearPeripheral blood smear Immature myeloid cellsImmature myeloid cells Large plateletsLarge platelets AnisocytosisAnisocytosis Poikilocytosis with many teardropsPoikilocytosis with many teardrops Nucleated RBCsNucleated RBCs

Bone marrow biopsy

• Dry tap

• Fibrotic marrow spaces

• Marked hyperplasia

• Clusters of platelets

• Abnormal megakaryocyte morphology

Cytogenetic Testing

• Trisomy 8

What caused the splenomegaly?What caused the splenomegaly?

Extramedullary hematopoiesisExtramedullary hematopoiesis Culling of the teardrop RBC and immature cellsCulling of the teardrop RBC and immature cells

Note: His abdominal pain is most likely a result of both the extramedullary hematopoiesis occuring in the kidneys, liver, and spleen, as well as thrombosis of the vasculature associated with the gastroinstestinal tract.

The DiagnosisThe Diagnosis

Myelofibrosis with myeloid metaplasia = MMM Myelofibrosis with myeloid metaplasia = MMM Middle agedMiddle aged AnemiaAnemia HepatosplenomegalyHepatosplenomegaly LeukocytosisLeukocytosis ThrombocytosisThrombocytosis Bizarre, functional plateletsBizarre, functional platelets Hypercellular bone marrowHypercellular bone marrow Fibrotic marrow spaces Fibrotic marrow spaces HyperplasiaHyperplasia Clusters of platletsClusters of platlets Abnormal megakaryocytesAbnormal megakaryocytes

Pathophysiology of Disease MMMPathophysiology of Disease MMM

• Change in hematopoeitic precursor cells

• Increased hematopoesis

• Teardrop RBC as they squeeze out of the bone marrow

• Hypercellularity of bone marrow

• Associated bone pain and osteosclerosis

• Extramedullary hematopoesis

• Splenomegaly

• Fibrosis of bone marrow

• Anemia

Therapy and Prognosis for Disease Therapy and Prognosis for Disease MMMMMM

Therapy• Immunosupressive therapy

• Slow down rapidly dividing hematopoetic cells

• Surgery for splenomegaly

• Blood transfusions

• Oral chemotherapy or low dose radiation

• Attack rapidly dividing hematopoetic cells

• Bone Marrow Transplant

Prognosis• Can terminate in acute mylocytic leukemia = AML

Prevention of Disease MMMPrevention of Disease MMM

Disease is idiopathic, so it is difficult to Disease is idiopathic, so it is difficult to determine how to prevent itdetermine how to prevent it

Unfortunately patient shows genetic Unfortunately patient shows genetic predisposition, so only preventative measures predisposition, so only preventative measures would be to avoid known carcinogens and have would be to avoid known carcinogens and have frequent blood analysisfrequent blood analysis

Take Home MessageTake Home Message The diagnosis is myelofibrosis with myeloid metaplasia The diagnosis is myelofibrosis with myeloid metaplasia

(extramedullary hematopoiesis) (extramedullary hematopoiesis) Typical symptoms are hepatosplenomegaly, anemia, Typical symptoms are hepatosplenomegaly, anemia,

bone pain.bone pain. The cause of the disease is idiopathic. The cause of the disease is idiopathic. Diagnostic tests include bone marrow biopsy and Diagnostic tests include bone marrow biopsy and

cytogenetics.cytogenetics. Treatment is supportive care, immunosuppressive Treatment is supportive care, immunosuppressive

therapy, and eventually a bone marrow transplant. therapy, and eventually a bone marrow transplant. Prognosis is eventual progression to lethal AML.Prognosis is eventual progression to lethal AML. Prevention is nonexistant.Prevention is nonexistant.

ReferencesReferences

Mayo Clinic : Myelofibrosis Resource. Mayo Clinic : Myelofibrosis Resource. http://www.mayoclinic.org/myelofibrosis/http://www.mayoclinic.org/myelofibrosis/

Harmening, D.M. Harmening, D.M. Clinical Hematology and Clinical Hematology and Fundamentals of HemostasisFundamentals of Hemostasis. 5. 5thth Edition. Edition. Philadelphia, PA. F.A. Davis Company. Philadelphia, PA. F.A. Davis Company. 2009. 2009.

McQueen, N. (2011, May). Lecture 13. McQueen, N. (2011, May). Lecture 13. Neoplastic Disorders of the Bone Marrow. Neoplastic Disorders of the Bone Marrow. Micr 410. CSULA.Micr 410. CSULA.