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SBB > Disease states > Flashcards

Disease states Flashcards

1
Q

PCH

A

Paroxysmal Cold Hemaglobinuria. Biphasic IgG antibody, binds at 30 degrees hemolyses at 37 degrees. Donath Landsteiner test

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2
Q

PNH

A

paroxysmal Nocturnal hemoglobinuria. Deficiency in GPI-linked proteins including DAF and CD59. this protect the membrane specifically DAF protects by preventing the binding of C2a and C4b together. Without DAF the membrane is more susceptible to complement mediated hemolysis

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3
Q

Bernard- Soullier

A

Deficiency in GP1B which binds vWF

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4
Q

Glanzman’s Thrombasthenia

A

Deficiency in GPIIb/IIIa which binds fibrinogen

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5
Q

SLE

A

systemic lupusertyromatosis. Immune complex disease. IC deposited in the dermal layer. C’ levels will be low in active disease. can cause vasculitis (inflammation of blood vessels), anemia, bleeding or blood clotting) ANA anti-nuclear antibodies test positive, anti-native-dsDNA

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6
Q

RA

A

rheumatoid arthritis- immune complex disease in which the immune complexes propagate in the synovial fluid leading to cartilage damage

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7
Q

Hemophilia A

A

Factor 8 deficiency. X-linked recessive, most common hereditary bleeding disorder

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8
Q

Hemophilia B

A

Facor 9 deficiency “Christmas disease” X-linked recessive- tendency for deep tissue bleeding, joints and muscles.

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9
Q

Ankylosing Spondylitis

A

B27 HLA association a chronic inflammatory disease affecting the spine, sacroiliac joints and large peripheral joints. 90% of people with disease have B27 HLA antigen

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10
Q

Disease association with HLA DR3

A

grave’s disease, sjorgen’s and SLE

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11
Q

Celiac disease

A

DR3-DQ2

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12
Q

Disease association with HLA D2

A

Good pasture’s syndrome and Multiple sclerosis

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13
Q

Myasthenia Gravis

A

autoimmune disorder target is acetylcholine recptor at neuromuscular joints. Prevents transmission of nerve impulses, leading to difficulty swalling and chewing, eventually death respiratory failure

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14
Q

Grave’s disease

A

hyperthyroidism- autoantibodies against receptors for TSH

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15
Q

Good pasture’s syndrome

A

autoimmune disorder. People with this syndrome develop substances that attack collagen in the tiny air sacs in the lungs and the filtering units (glomeruli) of the kidneys.

These substances are called antiglomerular basement membrane antibodies. The glomerular basement membrane is a part of the kidneys that helps filter waste and extra fluid from the blood. They can damage the basement membrane, which can lead to kidney damage.
Can develop disease post viral respiratory infection if already predisposed

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16
Q

Mcleoud syndrome

A

Lacking Xk gene, therefore expression of Kell is weakened, acanthocytes are a common feature, linked to chronic granulomatous disease

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17
Q

CGD

A

chronic granulomatous disease- inability to successfully kill pathogens, can phagocytize them but difficulty in creating the oxygen enzymes needed to destroy pathogens

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18
Q

Glomerularnephritis

A

Glomerulonephritis (gloe-mer-u-low-nuh-FRY-tis) is inflammation of the tiny filters in your kidneys (glomeruli). Glomeruli remove excess fluid, electrolytes and waste from your bloodstream and pass them into your urine. Glomerulonephritis can come on suddenly (acute) or gradually (chronic).

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19
Q

HUS

A

hemolytic uremic syndrome- Hemolytic uremic syndrome (HUS) is a condition that affects the blood and blood vessels. It results in the destruction of blood platelets (cells involved in clotting), a low red blood cell count (anemia) and kidney failure due to damage to the very small blood vessels of the kidneys.Most cases occur after infectious diarrhea due to a specific type of E. coli called O157:H7. Other causes include S. pneumoniae, Shigella, Salmonella, and certain medications.The underlying mechanism typically involves the production of Shiga toxin by the bacteria. Atypical hemolytic uremic syndrome (aHUS) is due to a genetic mutation and presents differently. Though both cause widespread inflammation and multiple blood clots in small blood vessels, a condition known as thrombotic microangiopathy.[6]

Treatment involves supportive care and may include dialysis, steroids, blood transfusions, or plasmapheresis. About 1.5 per 100,000 people are affected per year.Less than 5% of those with the condition die. Of the remainder, up to 25% have ongoing kidney problems.
Factor H deficiency is linked. LAB RESULTS: increase kidney values (creatinine), low platelets, low rbcs, clots, diarrhea (bloody) symptoms of kidney failure, decreased urine output

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20
Q

Deficiency in C1INH

A

Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger.

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21
Q

Urticarial reaction

A

Hives

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22
Q

Purpura

A

hemorrhage into the skin, mucous membranes and internal organs, clear sign is bruising

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23
Q

Serum Sickness

A

caused when administering antibodies from non humans in order to attempt to manage an infection, or nonprotein drugs. The antibody-antigen complex forms,. symptoms include fever arthralgia, skin erumption, and lymphadinopathy

24
Q

Chediak-Higashi syndrome

A

Mutaion of LYST gene- leads to abnormalities in neutrophil, NKcell and platelet function, neurologic abnormalities, diminished intracellular killing of organisms- poor prognosis with current infections

25
Q

Waldenstroms macroglobulinemia

A

lymphoplasmacytic lymphoma type of non-hodgkins lymphoma- neoplasma of single clone of B cells, overproduce and secrete monoclonal IgM, increase in plasma protein. Anemia, bleeding, bruising (Thermal amplitude testing may be important for understanding clinical significance of autoanti-I/i)

26
Q

Binding antigen for H. Pylori and Norwalk virus

A

Lewis B

27
Q

Parvovirus B19 recpetor

A

P

28
Q

TTP

A

signs decreased Plt ct, Increased LD- schistocytes on the smear. Causitive agent is deficient ADAMTS13. lab values would be low for this. Treatment= plasma exchange. ADAMTS13 cleaves ULVWF multimers- when these are not cleaved they are more likely to activate platelets caucing microthrombi which travel around the body and cause serious problems with neurological symptoms if cause a clot in the brain

29
Q

Rituximab

A

Drug used to treat CLL non Hodgkin’s lymphoma, can be used for WAIHI and TTP

30
Q

Cyclosporin

A

Drug used as immunosuppressant for transplant rejection can also be used for WAIHI

31
Q

Ecluzimab

A

drug used to treat PNH, inhibits complement mediated red cell destruction. prevents cleavage of Cs

32
Q

anything that ends in mab

A

monocolonal antibody - usually a drug that uses antibody to mediate response

33
Q

aHUS

A

atypical hemolytic uremic syndrome, caused by constant activation of complement cascade- or antibody against these factors. causes TMA

34
Q

TMA

A

thrombotic microangiopathy- tiny blood clots in vessles can lead to stroke, heart attack, kidney failure and death.

35
Q

LAD type 2

A

leukocyte adhesion deficiency type 2- mutation in GDP-fucose transporter gene (gives bombay phenotype)

36
Q

HEMPAS and secondary name

A

hereditary erythroblastic multinuclearity with positive acidified serum. Also knowns as congenital dyserythropoietic anemia type 2- patients tend to have i on their cells as opposed to I.

37
Q

TA-GVHD

A

skin rash, elevated liver values, GI symptoms, need to be able to see GVHD- microscopically in either skin or liver biopsy. Almost always fatal- only saving point stem cell transplant Difference between GVHD and TA-GVHD is bone marrow involvement is present in TA- makes bone marrow fibris

38
Q

HELLP

A

hemolysis, elevated Liver enzymes, low platelets. Don’t know the cause happens when you are pregnant. High blood pressure could have seizures, stroke or liver rupture

39
Q

Preeclampsia/ Eclampsia

A

increase b.p. damage to organs such as liver and kidneys with eclampsia you see seizures (more severe than preeclampsia)

40
Q

Placental abruption

A

placenta separates from uterine wall prior to birth

41
Q

Wiskott aldrich syndrome

A

X linked recessive disease characterized by eczemea thrombocytopenia, immune deficiency and bloody diarrhea due to thrombocytopenia. gene encode Wasp protein, has many functions including assisting in Tcell acativation. Diagnosed with blood smear- platelet count and low immunoglobulin levels

42
Q

Digeorge syndrome

A

partial mutation of chromosme 22, developmental delay and immunodeficiency due to T cell mediated activation processes. Typically T cells are diminished due to hypoactive thymus***

43
Q

in what disease states is platelet transfusion contraindicated

A

TTP and HIT- due to thrombosis- both are clotting disorders, though platelet count is low, it will cause patient to clot more

44
Q

Bivalirudin

A

Direct thrombin inhibitor

45
Q

Aragroban

A

Direct Thrombin inhibitor

46
Q

Hydroxyurea treatment

A

In patients with sickle cell disease, they can take this drug of hydroxyurea, this allows the red cells to stay round and flexible by increasing the amount of HgbF present. It is an alternative to red cell transfusion and helps to avoid serious complications of sickle cell disease like crisis, or pain.

47
Q

Gullian Barre syndrome

A

Guillain-Barre syndrome is a rare disorder in which your body’s immune system attacks your nerves. Weakness and tingling in your extremities are usually the first symptoms. These sensations can quickly spread, eventually paralyzing your whole body

48
Q

Cold Agglutinin Symdrome association with Blood group 027

A

CAS- autoanti-I and i important in CAS and mixed type auto immune hemolytic anemia, In these disease states it behaves as a complement binding antibody with increase titer and wide thermal range

49
Q

CAS associated with which diseases

A

Waldenstrom macroglobinemia, Lymphoma, CLL

50
Q

Removal of autoanti-I

A

cold autoadsorption- try to remove to do aborh/abscreen testing

51
Q

Cold agglutinins what it is and association

A

subtype of AIHA, increase concentration of ciruclating IgM antibodies which bind to I anitgen on erythrocytes and cause extravascular hemolysis. Association: low grade clonal B-cell lymphoproliferative disorder or EBV/Mycoplasma pneumoniae infections

52
Q

Embolism

A

lodging or blockage causing a piece of material inside a blood vessel

53
Q

CAD disease association

A

Resistant to plasmodium falciparum

54
Q

NOR disease association

A

Polyagglutination

55
Q

HEMPAS disease- association with antigen

A

increased i antigen

56
Q

VWF disease

A

abnormal PFA100, RIPA abnromal and decreased VWF:ag

57
Q

Bilateral infiltrates

A

a substance denser than air, pus, blood or protein which lingers in the parenchyma of the lungs, bilateral denotes both sides. This is indicative of TRALI

SBB (31 decks)

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