Heme Flashcards
Congenital aplastic anemia
Fanconi anemia, short stature, skin defects, hypogonadism, microcephaly, urogenital abnormalities
Work up for aplastic anemia
bone marrow, cytogenic analysis, B12, folate, LFTs, HIV, hepatitis, paroxysmal nocturnal hemoglobinuria screening
Treatment for aplastic anemia
allogenic stem cell transplant, or antithymocyte globulin and cyclosporine.
Cause of pure red cell aplasia
parvovirus b19, thymoma, autoimmune disorders, drugs
Large granular lymphocytosis
a common cause of pure red cell aplasia
Treatment for pure red cell aplasia
treat lymphoproliferative disorder, stop offending drugs, thymoma, prednisone, antithymocyte globulin, cyclosporine, cyclophosphamide, immune globulin if b19
Mild congenital neutropenia
middle eastern, African and black populations, not associated with increased infections, does not need treatment
Causes of neutropenia
drugs, vitamin deficiencies, autoimmune disorders, viral syndromes
Signs and symptoms of myelodysplastic syndromes
fatigue, easy bleeding, infections, anemia, nucleated erythrocytes, hypolobated hypogransular neutrophils
Treatment for myelodysplastic syndromes
observe if low risk, transfusions, iron chelation, epoetin, g-csf
Signs and symptoms of polycythemia vera
confusion, TIA, tinnitus, blurred vision, headache, pruritis, erythromelalgia (burning palms and soles), fever, weight loss, sweats, hepatosplenomegaly, DVT, bleeding, Budd-Chiari
Labs for polycythemia vera
HGB >18.5 in men, >16.5 women, leukocytosis, thrombocytosis, hepatosplenomegaly, elevated B12, uric acid, low erythropoietin, normal O2sat, JAK2 mutation
Treatment for polycythemia vera
low dose aspirin, phlebotomy and hydroxyurea (if over 60 or previous thrombosis)
Signs and symptoms of essential thrombocythemia
digital ischemia, erythromelalgia, bleeding, thrombosis, splenomegaly
Diagnosis of essential thrombocythemia
platelets >600,000 on 2 labs 1 month apart, no Philadelphia chromosome
Treatment for essential thrombocythemia
hydroxyurea plus low dose aspirin if thrombosis or >65 and risk for thrombosis
Signs and symptoms of CML
fatigue, night sweats, weight loss, abdominal discomfort, early satiety, bleeding, splenomegaly
Diagnosis of CML
neutrophilia, left shift, basophilia, elevated LDH, uric acid, low LAP, Philadelphia chromosome
Treatment for CML
imatinib
Symptoms of primary myelofibrosis
fatigue, night sweats, weight loss, abdominal pain, early satiety
Signs of primary myelofibrosis
hepatosplenomegaly, gout, bone pain, thrombosis, pulmonary hypertension
Diagnosis of primary myelofibrosis
anemia, left shift , nucleated and teardrop erythrocytes, elevated LDH, uric acid, alkaline phosphatase
Treatment for primary myelofibrosis
observation if asymptomatic. if symptomatic, then transfusions, danazol, hydroxyurea, splenectomy, stem cell transplant
Risk factors for acute myeloid leukemia
DNA damage, MDS or myeloproliferative disorder, defect in DNA repair, Down syndrome, aplastic anemia or paroxysmal nocturnal hemoglobinuria
Clinical manifestations of acute myeloid leukemia
fatigue, dyspnea, easy bleeding, fever, gingival hypertrophy, violaceous nontender cutaneous plaques, acute neutrophilic dermatosis (Sweet syndrome)
Diagnosis of acute myeloid leukemia
20% myeloblasts in blood or bone marrow, Auer rods, cytopenias, DIC, tumor lysis syndrome, hypokalemia
Treatment for acute myeloid leukemia
transfusions, allopurinol, chemo with cytarabine, and anthracycline
What is acute promyelocytic leukemia
variant of acute myeloid leukemia with t(15;17) sensitive to all trans retinoic acid
Clinical manifestations of acute lymphoblastic leukemia
fatigue, dyspnea, bleeding, fever, lymphadenopathy, hepatospenomegaly. anterior mediastinal mass, pleural effusion, superior vena cava syndrome. headaches, lethargy, nausea, vomiting, nuchal rigidity, cranial palsy, radiculopathy
Diagnosis of acute lymphoblastic leukemia
25% lymphoblasts in bone marrow
Treatment for acute lymphoblastic leukemia
allopurinol, chemo, intrathecal chemo, stem cell transplant. if Philadelphia chromosome positive then imatinib
Requirement for erythropoiesis stimulating agent
HGB 20%, ferritin >100
Clinical manifestations of multiple myeloma
bone pain, spinal cord compression, hyperviscosity, anemia, hypercalcemia, elevated creatinine
Diagnosis of symptomatic multiple myeloma
10% bone marrow plasma cells, an M protein present, and end organ damage.
Diagnosis of asymptomatic multiple myeloma
10% bone marrow plasma cells, 3g/dL M protein, and not end organ damage
Diagnosis of monoclonal gammopathy of undetermined significance
<10% bone marrow plasma cells, an M protein present, and no end organ damage
Clinical manifestations of AL amyloidosis
nephrotic range proteinuria with worsening kidney function, restrictive cardiomyopathy, hepatomegaly, symmetric distal sensorimotor neuropathy, carpal tunnel syndrome, autonomic neuropathy, Raccoon eyes, macroglossia
Diagnosis of AL amyloidosis
the presence of monoclonal plasma cell disorder, amyloid deposits of clonal light chains, and characteristic amyloid deposits (apple green birefringence with Congo red stain)
Waldenstrom macroglobulinemia
lymphoplasmacytic lymphoma characterized by the production of monoclonal IgM antibodies
Clinical manifestations of Waldenstrom macroglobulinemia
constitutional symptoms, lymphadenopathy, hepatosplenomegaly, hyperviscosity, peripheral sensorimotor neuropathy, mucosal bleeding, anemia with rouleaux formation
Signs and symptoms of hyperviscosity
headaches, blurred vision, dizziness, tinnitus, deafness, mental status changes, dilated tortuous retinal veins and retinal hemorrhage
Diagnosis of Waldenstrom macroglobulinemia
lymphoplasmacytic lymphoma of 10% of bone marrow and presence of IgM M protein
Treatment of Waldenstrom macroglobulinemia
Symptomatic patients only. Plasmapheresis of hyperviscosity, and Rituximab
Spherocytes
hereditary spherocytosis, warm autoimmune hemolytic anemia
Macrocytes
B12 of folate deficiency, myelodysplasia, antimetabolites
Target cells
hemoglobinopathy, liver disease, splenectomy
Schistocytes
microangiopathy (TTP, HUS, DIC)
Nucleated erythrocytes
marrow stress (hemolysis, hypoxia)
Teardrop cells
Fibrosis, marrow infiltration
Bite cells
G6PD deficiency
Rouleaux
paraproteinemia (myeloma)
Burr cells (gears)
kidney disease
Spur cells
severe liver disease
Elliptocytes
hereditary elliptocytosis
Hepcidin
produced by the liver to reduce excess iron absorption
Koilonychia
spooning of the nails due to severe iron deficiency
Characteristics of B12 deficiency
glossitis, weight loss, pale yellow skin, loss of position sense and vibration sense, hallucinations, dementia, psychosis
Peripheral smear in B12 deficiency
oval macrocytes with basophilic stippling, hypersegmented neutrophils with more than 5 lobes
Diagnose low-normal range B12 deficiency
elevated methylmalonic acid and homocysteine
Drugs that cause folate deficiency
triamterine, phenytoin, alcohol
Diagnose normal range folate deficiency
elevated homocysteine, but not methylmalonic acid
Inflammatory anemia
inflammatory cytokines cause low erythropoietin levels, and increased hepcidin
Anemia of kidney disease
low erythropoietin levels
Guidelines for erythropoietin use
target hemoglobin levels 11-12 g/dL, ferritin >100, iron saturation > 20%
Labs supporting hemolytic anemia
increased reticulocyte count, indirect bilirubin, and LDH levels, and decreased haptoglobin
Supporting history of hereditary spherocytosis
personal or family history of anemia, jaundice, splenomegaly, gallstones
Tests for hereditary spherocytosis
Coombs test is negative. osmotic fragility test is postive
Trigger of G6PD deficiency hemolysis
oxidative stressors such as infection, drugs such as dapsone, bactrim, nitrofurantoin, and fava beans
Heinz body
blue stained oxidized hemoglobin body in G6PD deficiency anemia, seen with bite cells