QUANTITATIVE PLATELENT DISORDERS Flashcards by CHARLENE SAN JOSE

quantitative plt disorders has 2 categories/distinction, what are they

thrombocytopenia
thrombocytosis

since quantitative means NUMBER, so it will only talks about the decrease and increase number of platelets

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Pathophysiologic Process that result in
Thrombocytopenia

decrease plt production
increase plt destruction
abnormal plt distribution

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2 categories in abnormal platelet production

megakaryocyte hypoplasia
ineffective thrombopoiesis

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MYH9 mode of inheritance

Inherited / Congenital Thrombocytopenia: Autosomal dominant thrombocytopenia

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MYH9 related to thrombocytopenia syndromes is caused by the mutations in the ___

MYH9 gene

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MYH9- related Thrombocytopenia
Syndromes examples

may-hegglin anomaly
sebastian syndrome
epstein syndrome
Fechtner syndrome

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MYH9- related Thrombocytopenia
Syndromes

affected patients have a triad of

thrombocytopenia
macrothrombocytes
dohle body-like inclusions in the leukocytes except epstein syndrome

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type of inclusion found in MYH9 related thrombocytopenia syndrome

dohle body like inclusions

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among the conditions associated with MYH9 related thrombocytopenia syndrome, which one has no dohle body-like inclusions

Epstein syndrome

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describe the thrombocytopenia of MYH9-related thrombocytopenia syndrome

mild to moderate thrombocytopenia

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MYH9 related thrombocytopenia syndrome and its associated conditions will show _______ in peripheral blood smear

enlarge platelets with frequent giant platelets

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MYH9- related Thrombocytopenia
Syndromes

example of conditions where we can observe macrothrombocytopenia

may hegglin
sebastian
fechtner
epstein

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MYH9- related Thrombocytopenia
Syndromes

example of conditions where we can observe dohle-like bodies/ dohle body-like inclusions

may hegglin
fechtner
sebastian

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MYH9- related Thrombocytopenia
Syndromes

example of conditions that we can observe in nephritis

fechtner
epstein

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MYH9- related Thrombocytopenia
Syndromes

example of conditions that we can observe in deafness

fechtner
Epstein

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MYH9- related Thrombocytopenia
Syndromes

example of conditions that we can observe in cataracts

fechtner

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Thrombocytopenia with Absent Radius (TAR)

what is the mode of inheritance

autosomal recessive thrombocytopenia

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Thrombocytopenia with Absent Radius (TAR) is associated with what mutation

RBM8A - CH1

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Thrombocytopenia with Absent Radius (TAR) is a rare disease first identified in what year

1959

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Thrombocytopenia with Absent Radius (TAR)

plt count is approximately

10-30 X 10^3/ul

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Thrombocytopenia with Absent Radius (TAR)

describe the ff:

plt count:
serum tpo:
marrow cellularity:

plt count: approx 10-30 X 10^3/ul
serum tpo: normal
marrow cellularity: normal or increased

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describe the megakaryocytes of Thrombocytopenia with Absent Radius (TAR)

low, absent or appears immature

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Thrombocytopenia with Absent Radius (TAR) is can be managed by ___

blood transfusion

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transcribe CAMT

Congenital Amegakaryocytic Thrombocytopenia
(CAMT)

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Congenital Amegakaryocytic Thrombocytopenia (CAMT) what is the mode of inheritance?

autosomal recessive thrombocytopenia

Congenital Amegakaryocytic Thrombocytopenia (CAMT) mutation in ____ which will cause the loss of TPO receptor

MPL gene -CH1

Congenital Amegakaryocytic Thrombocytopenia (CAMT) has the mutation in MPL gene - ch 1 which will cause the loss of _____

TPO receptor

Congenital Amegakaryocytic Thrombocytopenia (CAMT) has the presence of ___ and absence of ____

presence of severe thrombocytopenia absence of megakaryocytes in the bone marrow

Congenital Amegakaryocytic Thrombocytopenia (CAMT) a patient having this condition has a family history of _____ CAMT, and both parents ___ plt count and function

negative in CAMT both parents have normal plt count and function remember that this one is autosomal recessive thrombocytopenia.

describe the serum TPO of patient with CAMT

elevated thrombopoietin

a congenital thrombocytopenia which the patient will develop progressive marrow aplasia

Congenital Amegakaryocytic thrombocytopenia (CAMT)

2 groups of Congenital Amegakaryocytic Thrombocytopenia (CAMT)

GROUP CAMT I GROUP CAMT II

this group of camt has more severe type of thrombocytopenia with constantly low platelet count and an early onset of pancytopenia

group camt 1

this group of CAMT has transient increase in platelet counts during the first year of life and a later or no development of pancytopenia

group CAMT II

Congenital Amegakaryocytic Thrombocytopenia (CAMT) mutation in ____ which will cause the incomplete megakaryocyte differentiation

ANKRD26 - CH 10

plt countt of Congenital Amegakaryocytic Thrombocytopenia (CAMT)

20,000 to 100,000/ul

Congenital Amegakaryocytic Thrombocytopenia (CAMT) is characterized by ___ thrombocytopenia by a normal plt survival and normal number of bone megakaryocytes

mild

Congenital Amegakaryocytic Thrombocytopenia (CAMT) pbs will show ____

plt macrocytosis

Congenital Amegakaryocytic Thrombocytopenia (CAMT) describe the ff: plt aggregation: plt membrane glycoproteins:

plt aggregation: abnormal plt membrane glycoproteins: normal

mode of inheritance of wiskott aldrich syndrom

x linked thrombocytopenia

Wiskott-Aldrich Syndrome is originally described at what year

1937

is the most consistent feature of WASP-associated disease

microthrombocytopenia

Neonatal Thrombocytopenia plt count

less than 150, 000/ul

cause of Neonatal Thrombocytopenia

infection with toxoplasma, rubella, cytomegalovirus, herpes

neonatal thrombocytopenia Thrombocytopenia may be severe plt count of

70,000 /ul

most common infectious agent of neonatal thrombocytopenia

cytomegalovirus

Idiopathic Thrombocytopenic Purpura is also known as

immune thrombocytopenic purpura

one of the most common disorders causing severe isolated thrombocytopenia

idiopathic thrombocytopenia purpura

idiopathic thrombocytopenic purpura is caused by

autoantibody to the patient's platelet

Idiopathic Thrombocytopenic Purpura no specific test to confirm the presence of ITP is rather the diagnosis of __

exclusion

Idiopathic Thrombocytopenic Purpura can it be present in both children and adults?>

yes

Idiopathic Thrombocytopenic Purpura present an initial plt count of less than __

20 X 10^9/L

Idiopathic Thrombocytopenic Purpura progress of the disease

self limiting, spontaneous remissions with or without therapy in majority of the patient

Idiopathic Thrombocytopenic Purpura what is used to decrease the period of thrombocytopenia

IgG and corticosteroids

age group of chronic Idiopathic Thrombocytopenic Purpura

20-50 y/o

Idiopathic Thrombocytopenic Purpura chronic disease process with a greater predilection for what gender

women

Idiopathic Thrombocytopenic Purpura patient with mucosal bleeding typical of a ____

primary epistaxis easy bruisability petechiae

treatment of choice for Idiopathic Thrombocytopenic Purpura

IVIG

Idiopathic Thrombocytopenic Purpura bone marrow is characterized by ___

increased or normal number of megakaryocytes

Idiopathic Thrombocytopenic Purpura measurement of _____ specific for platelet surface GP IIb/IIIa and Ib/IX may provide greater specificity but still are not diagnostic

antibodies (IgG )

conventional therapies of Idiopathic Thrombocytopenic Purpura

splenectomy and corticosteroids

age group of acute Idiopathic Thrombocytopenic Purpura

2-6 yr/o

frequent causes of drug induced thrombocytopenia

quinine

quinine has been recognized as one of the most frequent causes of drug induced thrombocytopenia where it act as a ___

hapten

drug most frequently cited for drug induced immune thromboyctopenia

quinine, quinidine, salicylates, thiazides, sulfa drugs

drug induced immune thrombocytopenia occures more frequently to what age group

elderly due to increased usage of medication

purpura in drug induced immune thrombocytopenia will occur approx how many days of initial use of drug

7 days - but may occur within 3-5 days owing to anamnestic response

Neonatal alloimmune is also known as

isoimmune neonatal thrombocytopenia

it results from immunization of the mother by fetal plt antigen and placental transfer of maternal antibody

Neonatal alloimmune / Isoimmune Neonatal Thrombocytopenia

most often caused by maternal alloantiboes to the P1a1 antigen

Neonatal alloimmune / Isoimmune Neonatal Thrombocytopenia

Neonatal alloimmune / Isoimmune Neonatal Thrombocytopenia uncommon disorder, generally affecting the ____ child

first born

Infants who develop this disorder appear normal at birth but within a few hours develop scattered petechiae and purpuric hemorrhages, with platelet counts below 30 X 109 /L

Isoimmune Neonatal Thrombocytopenia

results from passive transplacental transfer of antibodies from mother with ITP or SLE

neonatal autoimmune thrombocytopenia

it can be used to predict the neonatal plt count in most cases, but the clinical manifestations are less sever than in NAITP

maternal disease severity and plt count during pregnancy

Neonatal Thrombocytopenia persist for weeks- months

1-2

Neonatal Autoimmune Thrombocytopenia give the tx

requires no treatment

it is developed after 1 week of transfusion of plt containing products

post transfusion purpura

manifested by RAPID ONSET of severe thrombocytopenia - bleeding

post transfusion purpura

post transfusion purpura the most effective way in resolving bleeding

plasmapheresis

post transfusion purpura tx of choice

IVIG

examples of quantitative plt disorder secondary (non immune )

thrombocytopenia in pregnancy HIV infection HDN TTP DIC Drug induced

defined by hypertension and proteinuria

pre-eclampsia

usually becomes evident during second trimester and is a major contributor to maternal and fetal morbidity and mortality

preeclampsia

defined by the occurrence of acute neurologic abnormalities in a preeclamptic woman during perpartum period

eclampsia

Low level of ADAMTS13 is detected

thrombocytopenia during pregnancy and preeclampsia

HELLPS syndrome is characterized by

hemolysis elevated Liver enzymes low Platelet count

HELLP syndrome is hard to differentiate from

TTP - Thrombotic thrombocytopenic purpura DIC - disseminated intravascular coagulation HUS - hemolytic uremic syndrome

gestational thrombocytopenia is commonly developed in the ___ trimester of pregnancy and does not cause bleeding in the mother or infant

3rd

gestational thrombocytopenia the plt count will go back to normal during ___

after the delivery

appears to be correlated between CD4+ T Cell depletion, viral load in plasma and the occurrence of thrombocytopenia

HIV related thrombocytopenia

viral infection of hematopoietic cells, altered marrow microenvironment of dysfunction of the RES contribute to ineffective thrombopoiesis in ___

HIV related thrombocytopenia

* Development of marrow fibrosis and marrow involvement by AIDS-related lymphoma may also lead to __.

thrombocytopenia

effective course of action of HIV related thrombocytopenia

antiretroviral therapy

in HIV related thrombocytopenia, aside from retroviral therapy, it is found to be an effective treatment

Iv IgG and anti-D globulin

HIV related thrombocytopenia, ____ may be effective but have the potential to increase the risk of infection in immunocompromised individuals

corticosteroid

HIV related thrombocytopenia therapy and treatment

antiretroviral therapy intravenous IgG and anti-D globulin corticosteroids splenectomy

thrombotic thrombocytopenic purpura first described as a pentad signs and symptoms that includes:

thrombocytopenia microangiopathic hemolytic anemia fever neurologic abnormalities renal dysfunction

are the characteristic pathologic feature and are found in multiple organs of patient with thrombotic thrombocytopenic purpura

hyaline microthrombi

coagulation screening test and D-dimer assay in TTP and compare it to DIC

coagulation screening and D dimer assay are normal in TTP in DIC - both are abnormal

* Two types of TTP

acquired and hereditary

acquired thrombotic thrombocytopenic purpura, the thrombi is found mostly in what organs

heart, pancreas, spleen, kidney, adrenal gland, and brain and are mainly compose of plt and vWF

Acquired Thrombotic Thrombocytopenic Purpura is associated with ___ deficiency

ADAMTS13

a disintegrin-like and metalloprotease with thrombospondin motifs

ADAMTS13

ADAMTS13 is also found deficient or decrease in what conditions

sepsis, DIC, and liver disease

acquired TTP thrombocytopenia and hemolysis, with blood smear showing ___

polychromasia, basophilic stippling nucleated cells schistocytes

describe the retics in TTP

increased