Quantitative Disorders Flashcards by Kyra Catedral

Thrombocytopenia:
Decrease in Circulating Platelets
•________ Platelet
• Most common cause of clinically important bleeding

< 100,000/uL

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• poorly prepared blood films or automated cell counts

THROMBOCYTOPENIA ARTIFACT

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• HEMORRAGES OF DIFFERENT SIZES: (3)

petechiae, purpura, ecchymoses

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Thrombocytopenia: Decreased Circulating Platelets

• High Risk: _______= spontaneous bleeding

<10,000/uL

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Thrombocytopenia:
Decrease in Circulating Platelets

Primary Pathophysiologic Processes
(3)

• Decreases platelet production
• Increases platelet destruction
• Abnormal distribution (sequestration)

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• Can result from a lack of adequate megakaryocytes in the bone marrow (megakaryocyte hypoplasia) or ineffective platelet production (thrombopoiesis)

Decrease Platelet Production

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Decrease Platelet Production

• Can result from a lack of _______ or_______

adequate megakaryocytes in the bone marrow (megakaryocyte hypoplasia)

ineffective platelet production (thrombopoiesis)

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Thrombocytopenia

Congenital

May-Hegglin anomaly
Bernard-Soulier syndrome
Fechtner syndrome
Sebastian syndrome
Epstein syndrome
Montreal platelet syndrome
Fanconi anemia
Wiskott-Aldrich syndrome
Thrombocytopenia with absent radius (TAR) syndrome
Congenital amegakaryocytic thrombocytopenia
Autosomal dominant and X-linked thrombocytopenia

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Thrombocytopenia

Acquired (2)

Viral or bacterial infections
Drug induced

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Thrombocytopenia

Neonatal

Alloimmune
Autoimmune
Infection
Inflammatory entities (e.g., acute bowel disorders such as spontaneous intestinal perforation or necrotizing enterocolitis [of varying degrees))
Perinatal asphyxia
Chronic fetal hypoxia (e.g., pregnancy-induced hypertension and gestational diabetes)

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Decreased Platelet Production

• Rare autosomal dominant
• Abnormally enlarged (20 um in dm)
• Misshapen platelets (PBF)
• Dohle-like bodies are present in neutrophils

May-Hegglin Anomaly

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Decreased Platelet Production

May-Hegglin Anomaly

• FUNCTION:____
• MUTATION:____ gene => abnormal size of platelets

• Asymptomatic unless severe thrombocytopenia is present
• Severe cases = transfusion with platelets

NORMAL

MYH9

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Decreased Platelet Production

• Autosomal dominant disorder
• MUTATION: MYH9 GENE
• CHARACTERIZED BY: large platelets, thrombocytopenia, and granulocytic inclusions

Sebastian Syndrome

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Decreased Platelet Production

• Similar abnormalities are observed in______
• Accompanies by deafness, cataracts and nephritis

•________: Large platelets associated with deafness, ocular problems and glomerular nephritis

FECHTNER SYNDROME

EPSTEIN SYNDROME

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Decreased Platelet Production

Sebastian Syndrome
• Autosomal dominant disorder
• MUTATION:_____
• CHARACTERIZED BY: large platelets, thrombocytopenia, and granulocytic inclusions

• Similar abnormalities are observed in FECHTNER SYNDROME
• Accompanies by (3)

• EPSTEIN SYNDROME: Large platelets associated with (3)

MYH9 GENE

deafness, cataracts and nephritis

deafness, ocular problems and glomerular nephritis

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Decreased Platelet Production

• Rare autosomal recessive disorder a Characterized by:

• severe neonatal thrombocytopenia • congenital absence
• extreme hypoplasia of the radial bones of the forearms with absent, short, or malformed ulnae
• other orthopedic abnormalities

Thrombocytopenia with absent Radius (TAR) Syndrome

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Decreased Platelet Production

TAR Syndrome

• MUTATION:_____ gene located on the long arm of chromosome 1 or a 200 kb deletion (_____)

RBM8A

1q21.1

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Decreased Platelet Production

• MUTATION:
RBM8A gene located on the long arm of chromosome 1 or a 200 kb deletion (1q21.1)

Thrombocytopenia with absent Radius (TAR) Syndrome

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Decreased Platelet Production

• autosomal recessive disorder
• reflecting bone marrow failure
• affected infants = ≤ 20,000/uL at birth
• petechiae and evidence of bleeding and frequent anomalies

Congenital Amegakaryocytic
Thrombocytopenia

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Decreased Platelet Production

Congenital Amegakaryocytic
Thrombocytopenia

• MUTATION: _____gene on Chromosome_____

• =>Complete loss of _______function => reduced megakaryocyte progenitors and high thrombopoietin levels

MPL

1 (1p34.1)

THROMBOPOIETIN RECEPTOR

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Decreased Platelet Production

Congenital Amegakaryocytic
Thrombocytopenia
• autosomal recessive disorder
• reflecting bone marrow failure
• affected infants = _______ /uL at birth
• petechiae and evidence of bleeding and frequent anomalies

≤ 20,000/uL

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Decreased Platelet Production

• MUTATION: ANKRD26 gene on the short arm of chromosome 10(10p12.1)

• => lead to incomplete megakaryocyte differentiation and resultant thrombocytopenia

• Morphology and Size: NORMAL
• Bleeding - Absent
• Function: NORMAL

Autosomal Dominant Thrombocytopenia

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Decreased Platelet Production

Autosomal Dominant Thrombocytopenia
• MUTATION:_____ gene on the short arm of chromosome_____

• => lead to incomplete megakaryocyte differentiation and resultant thrombocytopenia

ANKRD26

10(10p12.1)

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Decreased Platelet Production

Autosomal Dominant Thrombocytopenia

• Morphology and Size:____
• Bleeding -_____
• Function:_____

NORMAL

Absent

NORMAL

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***Decreased Platelet Production*** • MUTATION: • WAS (Wiskott-Aldrich Syndrome) gene • on the X chromosome (Xp11.23) • GATA1 gene • also on the X chromosome at Xp11 • mild thrombocytopenia with small platelets • absent or mild bleeding to large platelets with severe bleeding

X-linked thrombocytopenia

***Decreased Platelet Production*** X-linked thrombocytopenia • MUTATION: • ______gene • on the X chromosome (_____) •______ gene • also on the X chromosome at_____ • mild thrombocytopenia with small platelets • absent or mild bleeding to large platelets with severe bleeding

WAS (Wiskott-Aldrich Syndrome) Xp11.23 GATA1 Xp11

***Decreased Platelet Production*** Neonatal Thrombocytpenia •_____uL • Evident in 1-5% of infants within 72 hours of birth

< 150,000 uL

***Decreased Platelet Production*** • < 150,000 uL • Evident in 1-5% of infants within 72 hours of birth

Neonatal Thrombocytpenia

***Decreased Platelet Production*** • TORCH syndrome (common cause): small platelets (microthrombocytes) -

Neonatal Thrombocytpenia

***Decreased Platelet Production*** Neonatal Thrombocytpenia •________: most common infectious agent (0.5-1% of all birth) •_________ (40% may develop) •_________ => persistent thrombocytopenia •________: common but rare in HIV-infected neonates

CMV Congenital toxoplasmosis Congenital rubella syndrome HIV+ women

***Decreased Platelet Production*** Neonatal Thrombocytpenia • ____________ (drugs )= ***direct cytotoxic effect*** on the fetal marrow megakaryocyte (70,000/uL)

Chlorothiazide diuretics or tolbutamide (both sulfonamides)

***Decreased Platelet Production*** •________________ = early onset thrombocytopenia and impaired megakaryopoiesis despite increased levels of thrombopoietin

Placental insufficiency or fetal hypoxia

***Decreased Platelet Production*** • Increased platelet consumption or sequestration (2-25%) • Transplacental passage of maternal alloantibodies and autoantibodies • Disseminated Intravascular Coagulation (DIC)

Neonatal Thrombocytpenia

***Decreased Platelet Production*** Decreased Platelet Production (2) Acquired-Types of Impaired Platelet Production

• Drug-induced hypoplasia of bone marrow • Ineffective thrombopoiesis

***Increased Platelet Destruction*** Immune Mechanism of Platelet Destruction • thrombocytopenia rising without apparent cause of underlying disease state • IDIOPATHIC TO IMMUNE

IMMUNE THROMBOCYTOPENIC PURPURA AKA: Idiopathic thrombocytopenic purpura

Immune Mechanism of Platelet Destruction • Immunologic Drug-induced Thrombocytopenias: (4)

• Drug-dependent Antibodies • Hapten-induced Antibodies • Drug-induced Autoantibodies • Immune complex-induced thrombocytopenia

Classification of Thrombocytopenias: Increased Platelet Destruction Non-Immune

Gestational thrombocytopenia (in pregnancy, preeclampsia, and HELLP syndrome) HIV infection Hemolytic disease of the newborn Thrombotic microangiopathies (including TTP, HUS, aHUS) Disseminated intravascular coagulation (consumption) Bacterial infection, other infections/sepsis Drug induced Mechanical (including extracorporeal circulation)

Classification of Thrombocytopenias: Increased Platelet Destruction Immune

Acute and chronic ITP Drug induced: immunologic Heparin-induced thrombocytopenia Neonatal alloimmune thrombocytopenia Neonatal autoimmune thrombocytopenia Posttransfusion purpura Secondary autoimmune thrombocytopenia

***Increased Platelet Destruction*** •________ • Referred as: Moschcowitz Syndrome

THROMBOTIC THROMBOCYTOPENIC PURPURA

***Increased Platelet Destruction*** Non-Immune Mechanism of Platelet Destruction • TRIAD OF: Microangiopathic Hemolytic Anemia (MAHA), Thrombocytopenia, and Neurological abnormalities • may present with the classic pentad (+ fever and renal dysfunction)

• THROMBOTIC THROMBOCYTOPENIC PURPURA • Referred as: Moschcowitz Syndrome

***Increased Platelet Destruction*** Non-Immune Mechanism of Platelet Destruction • THROMBOTIC THROMBOCYTOPENIC PURPURA • TRIAD OF: (3)

Microangiopathic Hemolytic Anemia (MAHA) Thrombocytopenia Neurological abnormalities

***Increased Platelet Destruction*** Non-Immune Mechanism of Platelet Destruction • THROMBOTIC THROMBOCYTOPENIC PURPURA • Referred as: Moschcowitz Syndrome • Measurement of______ activity of presence of an inhibitor to _______aid in the diagnosis of TTP

ADAMTS13 ADAMTS13

***Increased Platelet Destruction*** Non-Immune Mechanism of Platelet Destruction • More common than TTP • Caused by Shigella dysenteriae serotype or enterohemorrhagic E.coli OH serotypes (0157:H7) • HALLMARK SIGNS: Mild thrombocytopenia, mild anemia, bloody diarrhea and AKI

• HEMOLYTIC UREMIC SYNDROME

***Increased Platelet Destruction*** • HEMOLYTIC UREMIC SYNDROME Caused by _______ or ______

Shigella dysenteriae serotype or Enterohemorrhagic E.coli OH serotypes (0157:H7)

***Increased Platelet Destruction*** HUS • HALLMARK SIGNS: (4)

mild thrombocytopenia mild anemia bloody diarrhea AKI (acute kidney injury)

***Increased Platelet Destruction*** Non-Immune Mechanism of Platelet Destruction • Common cause of destructive thrombocytopenia • activation of coagulation cascade => consumptive coagulopathy that entraps platelets in intravascular fibrin clots

• DISSEMINATED INTRAVASUCLAR COAGULATION

***Increased Platelet Destruction*** • It has many similarities to TTP • INCLUDING: MAHA and deposition of thrombi in the arterial circulation of most organs

DIC

***Increased Platelet Destruction*** •______: thrombi are composed of PLATELETS •______: composed of PLATELETS AND VWF

DIC TTP

Increased Circulating Platelets

THROMBOCYTOSIS

***Increased Circulating Platelets*** THROMBOCYTOSIS •_________ • Arise from an acquired condition • RARE:_______

>450,000/UL familial thrombocytosis associates with mutations

***Increased Circulating Platelets*** • Elevated: • Secondary to inflammation • Trauma a Underlying conditions • Seemingly unrelated conditions

THROMBOCYTOSIS

***Increased Circulating Platelets*** • 450,000/UL and 800,000/uL • Function: Normal • Morphology: Normal • Aggregation test: Normal

• REACTIVE THROMBOSIS

***Increased Circulating Platelets*** • Production remains responsive to normal stimuli • Normal to increased number of megakaryocytes • Not associates with thrombosis, hemorrhage or abnormal TPO levels

• REACTIVE THROMBOSIS

***Increased Circulating Platelets*** THROMBOCYTOSIS • REACTIVE THROMBOSIS associates with hemorrhage or surgery •________: Platelet count low for 2-6 days • Returns to normal 10-16 days after blood loss

Acute hemorrhage

***Increased Circulating Platelets*** THROMBOCYTOSIS • Initial increase: 30-50% • Count: reach or exceed 1 million/uL • Splenectomy for treatment of anemia: the platelet count can remain elevated for several years

• POSTSPLENECTOMY THROMBOSIS

***Increased Circulating Platelets*** • REACTIVE THROMBOSIS •_______ and______ • Function:_____ • Morphology: ______ • Aggregation test: _____

450,000/UL and 800,000/uL Normal

***Increased Circulating Platelets*** THROMBOCYTOSIS • REACTIVE THROMBOSIS associates with hemorrhage or surgery • Acute hemorrhage: Platelet count low for______ • Returns to normal______ days after blood loss

2-6 days 10-16

***Increased Circulating Platelets*** THROMBOCYTOSIS • POSTSPLENECTOMY THROMBOSIS • Initial increase:______ • Count: reach or exceed_____ • Splenectomy for treatment of anemia: the platelet count can remain elevated for several years

30-50% 1 million/uL

***Increased Circulating Platelets*** THROMBOCYTOSIS • THROMBOSIS associates with_____ • secondary to chronic blood loss is associates with reactive thrombocytosis •_______: lead to a diversion of megakaryocytic-erythroid progenitors towards megakaryocyte lineage commitment • TREATMENT of _____: normalize the count

IDA LOW IRON IDA

***Increased Circulating Platelets*** THROMBOCYTOSIS • THROMBOSIS associates with Inflammation and Disease • ACUTE PHASE REACTANTS: (2) • Found in patients with ***rheumatoid arthritis*** • Increase in malignancies •________syndrome

Fibrinogen, VWF KAWASAKI SYNDROME

***Increased Circulating Platelets*** THROMBOCYTOSIS •___________ • Relative thrombocytosis • Release of platelets from the splenic pool • Hemoconcentration • Returns to preexercise level 30 minutes after excercise

Exercise-induced Thrombocytosis

***Increased Circulating Platelets*** THROMBOCYTOSIS Peaks 10-17 days after withdrawal of the offending drug or after institution of therapy for the underlying condition

REBOUND THROMBOCYTOSIS

***Increased Circulating Platelets*** REBOUND THROMBOSIS Peaks______ days after withdrawal of the offending drug or after institution of therapy for the underlying condition

10-17

***Increased Circulating Platelets*** THROMBOCYTOSIS • Chronic myeloproliferative neoplasm, is the most common cause of thrombocytosis

ESSENTIAL THROMBOCYTHEMIA

***Increased Circulating Platelets*** ET • Peripheral Blood:_______ • uncontrolled proliferation of marrow megakaryocyte • persistent marked elevation of platelet count is an absolute requirement for the diagnosis of it

>1 million/uL platelets

***Increased Circulating Platelets*** • CAUSE: clonal proliferation of a single abnormal pluripotent stem cell that eventually crowds out normal cells

Quantitative Disorders Flashcards

(66 cards)