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Pathophysiology - Diseases > Diseases and Disorders of the blood pt2 > Flashcards

Diseases and Disorders of the blood pt2 Flashcards

1
Q

What are hemoglobinopathies?

A

disorders affecting the structure, function, or production of hemoglobin

most hemoglobinopathies r sickle cell anemia and thalassemia

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2
Q

What is sickle cell anemia?

A

genetic disorder
severe hemolytic anemia
sickle cell crises
increased susceptibility to infections
RBC have an abnormal form of hemoglobin (hemoglobin S) so when RBC deoxygenates hemoglobin S cross-links with other hemoglobin S molecules and long crustal develop

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3
Q

what are the 2 types of sickle cell anemia?

A

heterozygotes - (having inherited the gene from just one parent) have sickle cell trait, a mild disease.

homozygotes - (having inherited two genes, one from each parent) have the severe form known as sickle cell anemia.

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4
Q

Approximately ___% of African Americans have the sickle cell trait.

A

10

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5
Q

What do sickled RBC do and why?

A

obstruct small arterioles and capillaries (=pain and ischemia) bc sickled RBCs are inflexible, rigid, and more fragile (hemolysis)

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6
Q

how to diagnose sickle cell disease?

A

basis of symptoms and by microscopic examination of
red blood cells

genetic counseling for parents

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7
Q

how to treat sickle cell anemia?

A

sickle cell anemia can’t be cured, treatment aims to prevent sickle cell hemolysis, control anemia, and relieve painful symptoms using analgesics, blood transfusions, and fluid replacement

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8
Q

What is thalassemia?

A

inherited blood disorder
deficient synthesis of 1 or more of the protein chains required for proper formation and performance of hemoglobin
one of the most common genetic disorders in the world

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9
Q

stats for thalassemia?

A

affects abt 200 mill ppl
14% of AA r carriers for it
10–15% of people from Mediterranean countries and Southeast Asia
About 1,000 severe cases occur annually in
the United States

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10
Q

What does the most severe form of thalassemia prdouce?

A

severe, life-threatening anemia
bone marrow hyperactivity
enlargement of the spleen
growth retardation
bone deformities

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11
Q

how to diagnose and treat thalassemia?

A

diagnosis - made in childhood based on symptoms of severe anemia (RBC resembles RBC of severe iron deficiency)
can be diagnosed in fetus through exam of fetal DNA

Treat using blood transfusions

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12
Q

What is polycythemia?

A

condition in which red blood cell mass is increased
2 categories:
relative - increase in RBC mass is bc loss of plasma volume w/o the corresponding decrease in RBC (caused by plasma volume is reduced by dehydration, plasma loss, fluid and electrolyte imbalances or burns, reduced oxygen supply)
absolute - aka polycythemia vera, a rise in RBC mass accompanied by an increase in WBC & platelets w/o recognizable physiological stimulus

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13
Q

In what age group is polycythemia vera the most common?

A

men ages 40 to 65

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14
Q

s/s of polycythemia

A
  • splenomegaly
  • cyanosis
  • circulatory stagnation
  • throbmus
  • icnreased blood viscosity
  • dizziness
  • headaches
  • visual disturbance
  • hypertension
  • itching pain
  • thromboembolism w/ death
  • dyspnea
  • irritabilty
  • mental sluggishness
  • night sweats
  • wt loss
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15
Q

How to diagnoser and trreat polycythemia vera?

A

diagnose w/ abn icnrease in RVC, hemoglobin levels, hematocrit, leukocyte and thrombocyte, enlarged spleen

decreasing thickness of blood by:
IV removing blood to reduce RBC volume
Chemotherapuetic agents to suppress the production of all blood cells by bone marrow
take meds for pain meds and antihistamines
myelosuppresive drugs and radiation

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16
Q

What are disorders of hemostasis?

A

aka bleeding disorders
ranges from poor blood clotting and continous bleeding
results from abnormal platelet function or number, vitamin K
deficiency, or clotting factor deficiencies

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17
Q

what is essentional for hemostasis?

A

Platelets
clotting factors prothrombin, thrombin, vitamin K, and calcium

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18
Q

What is thrombocytopenia?

A

abn small number of circulating platelets
most common bleeding problem among hospitalized pts
results from impaired production or increased destruction of platelets
common cause is cancer chemotherapy or radiation treatment

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19
Q

What do spontaneous hemorrhages result in?

A

small visible flat red spots called petechia, larger puprlish patches called ecchymoses

can also occur in mucous membrane of the mouth and internal organs

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20
Q

How to diagnose and treat thrombocytopenia?

A

Diagnose: microscopic examination of the blood & bone marrow exam

Treat: usually corrects itself after fixing the underlying cause, can give platelet transfusion in extreme cases

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21
Q

What is Idiopathic thrombocytopenic purpura (ITP)?

A

autoimmune disorder, resultsin excess destruction of platelets

most common in children less than 5 after viral infection

appears as petechiae

in adults ITP is chronic and rarely follows an acute viral infection

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22
Q

how to diagnose and treat ITP?

A

diagnose - based on the appearance of severe thrombocytopenia, then CBC, peripheral blood smear, clinical symptoms, prolonged bleedign time and reduced platelets + abn platelet shape + size, if pt has suspected immune disorder analysis of blood for the presence of antibodies or phagocytic cells

treatment - usually controlled by administration of corticosteroids to increase capillary integrity, IVIg to increase platelet count, blood transfusion, vitamin K administration, therapeutic plasma exchange, removal of spleen in extreme cases

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23
Q

What is coagulaton defects

A

coagulation involves a lot of different plasma proteins to form a thrombus to prevent blood loss so coagulation defects r from deficiences or impairments of 1 or more clotting factors

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24
Q

What is impaired synthesis of coagulation factors ?

A

Some of the coagulation factors require vitamin K (synthesized by intestinal bacteria) so when vitamin K deficiency the liver produces an inactive form of coagulation factors VII, IX, X, and prothrombin

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25
Q

What is hemophilia A?

A

the most common inherited bleeding disorder along with von Willebrand’s disease (affects 1 in 5000 males)

x linked recessive disorder, which primarily affects males, is caused by a deficiency in clotting factor VIII

if mild to moderate bleeding doesnt occur unless local lesion or trauma

if sever bleeding is spontaneous and severe

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26
Q

here does bleeding often occur for hemophilia?

A

GI tract and in the joints of the hip, knee, elbow, and ankle

causes inflammation with acute pain and swelling

can cause joint fibrosis which leads to major disability

intracranial hemorrhage is a Cause of death in sever hemophilia

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27
Q

how to diagnose and treat hemophilia?

A

diagnose - clinical picture and thorough history, clotting sutudes indicate normal platelet count, bleeding time, PT time, PTT, factor VII assay of 0% to 30%

treat - regular replacement of factor VIII, with additional doses
administered during phases of acute bleeding.

mild hemophilia A can sometimes be treated with a synthetic hormone called desmopressin, which stimulates the release of the carrier for factor VIII

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28
Q

What is von Willebrand’s disease?

A

inherited bleeding disorder that is most often diagnosed in adulthood

caused by deficiency in the von Willebrand clotting factor (vWF)

many forms of von willevrand’s disease have defects in the adhesion of platelets as well as reduced levels of factor VIII

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29
Q

what are symptoms of von willebrand’s disease?

A

bruises from minor bumps
frequent nosebleeds
extended bleeding following dental procedures
heavy menstrual bleeds
heavy bleeding following surgery.
life-threatening gastrointestinal or joint hemorrhage

30
Q

how to diagnose and treat von willebrand’s disease?

A

diagnose - after sever bleeding episode through blood tests

treatment - meds (increase vWF in blood, repalce vWF, prevent breakdown of clots and control heavy periods in W) & lifestyle changes to minimize trauma

31
Q

What is disseminated intravascular coagulation?

A

a potentially life-threatening condition that involves destruction of the platelets and consumption of clotting factors

occurs during sepsis, blood infection, endothelial damage in states of shock, obstertical complications associated with delivery a child and some cancers

31
Q

What is disseminated intravascular coagulation?

A

a potentially life-threatening condition that involves destruction of the platelets and consumption of clotting factors

occurs during sepsis, blood infection, endothelial damage in states of shock, obstertical complications associated with delivery a child and some cancers

32
Q

how does DIC start?

A

release of thrombin into circulation = systemic coagulation and suppression of normal anticoagulation = tissue ischemia, organ damage, depletion of plateles and clotting factors (known as consumptive coagulopathy)

32
Q

how does DIC start?

A

release of thrombin into circulation = systemic coagulation and suppression of normal anticoagulation = tissue ischemia, organ damage, depletion of plateles and clotting factors (known as consumptive coagulopathy)

33
Q

How to diagnose DIC?

A

based on the presence of clinical signs of bleeding in a patient with a clinical condition known to be associated with DIC
(low platelet counts on a peripheral blood test, increases in bleeding times, and the presence of degradation products in the blood plasma.)

34
Q

how to treat DIC?

A

treat underlying disorder + platelet transfusions, administration of concentrates of coagulation inhibitors, and
administration of an intravenous anticoagulant

35
Q

What is neutropenia?

A

aka agranulocytosis

a reduction of circulating neutrophils, which increases the risk for bacterial and fungal infections

signs include swelling and pus formation r diminished or absent

frequent in pt in chemo or immune suppression bc these suppress cellular proliferation in bone marrow, can also be caused by drug toxicity or hypersentitivty

36
Q

what other diseases is immune destruction of neutrophils associated with?

A

rheumatoid arthritis or as a primary condition with unknown causes

36
Q

s/s of chronic neutropenia

A

chronic infections, fever, skin inflammation, abscesses and septicemia, severe fatigue, weakness, sore throat, ulcerations on oral mucosa, dysphagia, weak and rapid pulse, chills

37
Q

how to diagnose and treat neutropenia?

A

diagnose - complete blood count for significuntly , examine bone marrow, history for expsoreu to offedning infectious agents, blood, urine and oral cultures

treat - sometimes resolves w/o treatment, mild neutropenia has no symptoms, if severe hospitalization with isolation & iv antibiotics, colony-stimulating factors can help produce WBC if neutropenia is from cancer treatment, corticosteroids, Ig or granulocyte-colony-stimulating factor if neutropenia is from autoimmune

38
Q

What is Idiopathic Hypereosinophilic Syndrome?

A

Persistent increases in blood eosinophils without a cause

39
Q

in what demographic is Idiopathic Hypereosinophilic Syndrome most common?

A

males ages 20 and 50

40
Q

s/s of Idiopathic Hypereosinophilic Syndrome:

A

heart and nervous system problems:

congestive heart failure, valve dysfunction, conduction defects, and myocarditis (CHF is often COD)

Neurologic problems include altered behavior
and cognitive function, spasticity, and ataxia.

41
Q

What is prognosis for idiopathic hypereosinophilic
syndrome?

A

w/o treatment 1 yr, with chem 70% survival at 10 yrs

42
Q

What is Eosinophilia-Myalgia Syndrome + etiology?

A

chronic, multisystem disease

muscle pain, fatigue, and a progressive, potentially fatal illness characterized by skin changes, nervous system abnormalities, and pulmonary hypertension

The illness has been related to the ingestion of the dietary supplement L-tryptophan.

43
Q

What are age-related blood diseases?

A

Anemia is the most common blood disorder
in persons greater than 75 years of age usually caused by:

blood loss
nutritional deficiencies
chronic illness
chronic renal failure

if untreated:
Decreased physical performance
mental status changes
increase in mortality

44
Q

What is leukemia + s/s and predisposing factors?

A
  • cancer of blood-formingtissues
  • most common childhood malignancy
  • abnormal increase in nubmer of immautre WBCs or undifferntiated blastocytes (= bone marrow overcrowding, reduced production and function of normal blood cells)
  • bone marrow infiltration by leukemic cells leads to anemia, susceptiblity to infection resutling from neutropenia, and prolonged bleedin tiem resultign fromreduction in amt of platelents
  • common s/s r fever, easy bruising, pallor, weakness, wt.loss and bone and joint pain, abn cells can invade various organs of body
  • predisping factors include congenital disroders liike Dow syndrome and radiation therapy
45
Q

types of leukemia?

A

1) acute lymphoid leukemia (ALL) (80% of childhood leukemia)
2) acute myelogenous leukemia (AML)

46
Q

how to diagnose and treat leukemia?

A

diagnose - peripheral blood smear shows immautre forms of WBC (Leukocytosis, neutropenia, anemia, thrombocytopenia), measure levels of uric acid, electrolytes, kidney and liver function and coagultiona studies, specimen from bone marrow aspiration is examined, chromosome analysis of leukemic cells and lumbar puncture to determine if CNS is involved

treatment - systemic chemo intrathecally or as prophylaxis, must be folloed up closley for s/s of tumor lysis syndrome (group of metabolic complications that develop bc of destruction of leukemic cells from chemo), bone marrow transplant for poor prognosis or relapsed ALL or for children wit hAML

47
Q

prgnosis of leukemia?

A
  • depends on pt age, WBC count, cytogenics, immunophenotype (T cell or B cell)
  • for ALL, having WBC count greater than 50,000 and being less than 1 or over 10, having certain cytogenic abnormalities like Philadelphia chromosome r assoicated w/ poorer prgonsis
  • for AML WBC over 100,000 and certain chromosomal abn like monosomy of chromosome 7 carry poorer prognosis
  • failureto acheive remission by day 28 of therpay is associated w/ poor prognosis
  • for soleoy chemo 80% achieve long-term
  • long term survival for those who have BMT range from 25%-50% (can have late adverse effects of treatment like CNS impairment, delayed growth, infertility and even secondary cancers)
48
Q

What is erythroblastosis fetalis + s/s?

A

hemolutic disease of newborn
- stems from incompanility of fetal and maternal bood, resulting in excessive rates of RBC desutrction
- characterized by anemia, jaundice, kernicterus and enlargement of liver and spleen (in most sever called hydrops fetalis the fetus or infant is in great jeopardy because of extreme hemolysis)
- if infant survuvives than condition is marked by heart failure, edema, pulmonary coongestion, lethargy, seizures and intellectual developmental disorder

49
Q

What happens when mother and fetal Rh factors don’t match?

A
  • blood from fetus may move from fetal circulation itno mother’s blood stream where it stimulates mother’s body to form antibodies against Rh factor, when sufficent quantities of antibodies pass back into infant’s ciruclation the acnitidies can clump and destory Rh cells
50
Q

how to diagnose and treat erythroblastosis fetalis

A

diagnose - blood typing, maternal history includes pregnacyn, elective and spntaneous abortions and blood transfusion, direct Coombs test of umbilical cord blood, bilieubin test for bilirubinemia and hematocrit determination + analysis of amniotic fluid

treatment - degree of erythroblastosis fetalis and effect of fetus, intrauterine transfusions amy be indicated wiehn fetus shows isgns of distress, early delivery, exchange trnasfuions, phototherapy and albumin infision to redcude amt of curculating bilirubin

51
Q

prognosis of neuroblastoma?

A
  • best indicators r younger age, localized, certain cytogenetic abn
  • stage 4S includes children youngerthan 1 years of age with disseminated sidsease (this confers better prognosis bc these tumors may regress spontaneuosly w/o any therapy)
52
Q

s/s of Idiopathic thrombocytopenic purpura

A
  • related to inability of blood to clot and include spontaneous hemorrhages in skin, mucous membrane or internal organs
  • petechiae, small spiderlike hemorrhages under surface of skin and ecchymoses, larger hemorrhagic area
  • epistaxis
  • GI bleeding
  • menorrhagia
  • hematuria
  • easy bruising
53
Q

etiology of immune-mediated neutropenia

A

-accelerated turnover of neutrophoils but there is an even greater icnrease in destruction mediated by antineutrophil antibodes
- almost complete absence of neutrophils in blood
- associated w/ infection, drug exposre, ITP, autoimmune hemolytic anemia, connective tissue diseases, SLE and RA, isoimmune neutropenia

54
Q

What is acute lymphocytic leukemia?

A
  • ALL is characterized by overproduction of lymphoblasts in bone marrow and lymph nodes (classified int o B-cell ALL or T-cell ALL)
  • 20% of adult leukemias, most common childhood leukemia
  • prolonged exposure to radiation, certain chemicals and drugs, smoking, viruses, genetic factors
55
Q

s/s of ALL?

A
  • pale
  • bone pain
  • wt loss
  • sore throat
  • fatigue
  • fever
  • night sweats
  • weakness
  • increased bruising and bleeding
  • impaired functioning of spleen, liver, lyphm nodes and nervous system
  • headache
  • blurred vision
  • nausea & vomting
  • cranial nerve palsies
  • mediastinal mass
56
Q

diagnose and treat ALL?

A

diagnose - peripheral blood smear anlysis, microscpix exam of bone marrow aspiration or biopsy, blast cells should make up greater than 25% of all nucleuc cells in bone marrow, karyotyping

treat - chemo for 2-3 yrs (bc 3 stages: indcution, consolidiaotn, maintenance), intrathecally administered chemo bc CNS invasion is common, tyrosine inhibitor if Philadephia chromosome, hematopoietic stem cell transplantation (HSCT)

57
Q

What is chronic lympgocytic leukemia + s/s?

A
  • neoplasm that involves lymphocytes
  • slowly progressing disease that results in accumultion of mature-appearing but hypofunctional lymphocytes
  • s/s r lymphocytosis, thrombocytopenia, anemia, wt loss, fever, night sweats, extreme fatigue, splenomegaly, hepatomegaly, painless swelling of cervical, supraclavicular or axillary lymphn nodes
58
Q

how to diagnose and treat CLL?

A

diagnose - 95% found during routine blood work , peripheral blood smear analysis, bone marrow studies (over 5000/uL), bone marrow is hypercellular, screening for B cell marker

treat - chemo when symptomatic, radioation for symptoms caused by lymphadenopathy and splenomegaly, monoclonal antibodies directed against B-lymphocyte surgace antigens, nonmyeloabltaive transplant

59
Q

What is Rai systen>

A

stage 0: pt have lymphocytosis and bone marrow infiltration of greater than 30% blasts (median survival time is 12 yrs)
stage I: lyphadenopathy, median survival time is 9 yrs
stage II: splenomegaly and/or hepatomegaly, median survival time is 6 yrs
Stage III: anemia, median survival time is 1 yr
Stage IV: thrombocytopenia, median survival time is 1 yr

60
Q

What is acute myelogenous leukemia +s/s?

A
  • rapidly progressive neoplam of cells committed to myeloid line of development
  • leukemic cells accumulate in bone marrow, peripheral blood and other tissues
  • s/s r pancytopenia, anemia, easy bleeding and brusing, increase drisk of infection, gingival bleeding, epistaxis, menorrhagia, wt loss, fatigue, pallor, lymphadenopathy and organomeglay
  • s/s r positive family history for leukemia, ionizing radiation, chemo, benzene
61
Q

diagnose and treat acute myelgenous leukemia?

A

diagnose - clinical picture, results of peripheral blood, Auer rod in leukemic cell, bone marrow aspiration, biopsy (bone marrow is hypercellular, greater than 20% myeloblasts), morphologic classification, cytogenetic analysis, molecular studies

treat - routine lab testing, chest radiography, ECG, HSV, CMV serology, chemo, haematopoietic stem cell transplantation during first remission

62
Q

What is acute promyelcytic leukemia (APL) + treat

A
  • unique subtype of acute myeloid leukemia (AML) in which cells in the bone marrow that produce blood cells (red cells, white cells and platelets) do not develop and function normally
  • translocation btwn long arms of chromosomes 15 and 17, creating fusion gene PML/RAR-a
  • treat with all-trans retinoic acidm derivative of vitamin A, cytotoxic chem and arsenic triocide
63
Q

What is chronic myelogenous leukemia?

A
  • slowly progressing neoplasm that arises in hematopoietic stem cell or early progenitor cell, reultingi nexcess of mature-appearing but hypofunctional neutrophils
  • CML accounts for abt 15% of leukemia cases in adults, abg age of diagnosis is 64 (assocated w/ abn chromosome 22, Philadelphia chromosome)
64
Q

s/s of chronic myelogenous leukemia?

A
  • has triphasic courseL chronic phase, accelerated phase, blast crisis (most r diagnosed in chornic where abn proliferation of WBCs began)
  • mostly asymptomatic where disease is suspected on basis of abn such as leukocytosis and thrombocytosis
  • splenomegaly
  • increased leukocytosis
  • neutrophil differntiation becomes furhter impaired
  • bone pain
  • fever
  • night sweats
  • defined by presence of 30% or greater blasts in peripheral blod or bone marrow
65
Q

diagnose and treat CML

A

diagnose - climinal pciture, blood and bone marrow studies, CBC = anemia, leukocytosis and thrombocytosis, bone marrow biopsy show hyperplasia but cells appear more mature, presence of Philadelphia chromonse or BCR/ ABL fusion gene, fluorescnece in situ hybridization, polymerase chain reaction

treat - HSCT is only cure, initally teat w/ drugs tha inhibit BCR/ABL tyrosine kinase (Tyrosine kinase inhibitors - TKIs)

66
Q

s/s of hemophilia A?

A
  • any unusually prolonged bleeding episode, easy bruising, hematoomas, excessive nosebleed in male child, ecchymosis at birth, bleeding from circumcision
67
Q

What is lupus anticoagulant + s/s, diagnose and treat ?

A
  • usually doesnt have lupus erythematosus, some may progress to disease w/ joint pain, dermatoligc problems, or renal involvement
  • many r asymtomatic, s/s r abn bleeding of nose or gums, atypical bruising, abn menstrual cycles, multiple miscarriages, blood clots in legs or lungs, strokes, heart attacks
  • diagnose w/ blood tests
    0 treat w/ anticoagulant, aspirin, routine blood tests
68
Q

What is disseminated intravascular coagulation?

A

0 simulatneous hemorrhage and thrombosis
- secondary to otehr disease or dramatic events
- s/s r oozing of blood from needle puncture sitres, mucous membrane, incision, bleeding in form of purpura, wound hematomas, petechiae, hematemesis, hematuria, bloody stool, headhaces, air hunger, tachycardia
- caused by productiion of fibrin, causing clots to form where they r not needed, also causes platelet aggregation (gorming more clots), excessive fibronolysis and additional bleeding

69
Q

how to diagnose and treat disseminated intravascular coagnulation?

A

diagnose - clinoical picture, thorough history, probable precipitating event, lab studies, platelet count and fibrinoogen levels where Pt is prolonged

treat- administration of IV heparini inhibits the formation of additional microthrmobi and prevents aggregation of platelets, platelet repacement and plasma-clotting factors r admiinstered when serois hemorrhage is present
- life threatening and often fatal

Pathophysiology - Diseases (22 decks)

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