Term
| what kind of autosomal trait in caucasians causes hemochromatosis? dominant or recessive |
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Definition
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Term
| what are causes of hemochromatosis? |
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Definition
Excessive iron loading of tissues
Cause: primary genetic defect
complication of liver disease or
certain anemias |
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Term
| what kind of diabetes and name the defective gene Hemochromatosis has? |
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Definition
bronze diabetes
HFE1 gene, on chromosome 6 is affected
associated with level of iron absorption
& excessive accumulation in vital
organs |
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Term
| what are the first S&S of hemochromatosis? |
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Definition
Asthenia
loss of libido, impotence*
darkening of the skin*
arthralgias – small/large joints* |
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Term
| what kind of infection are hemochromatosis pt susceptible to ? |
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Definition
| Listeria, Yersinia & Vibrio |
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Term
| what is the gold stnadard test for Hemochromatosis? |
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Definition
**genetic testing for HFE1 gene**
Dx: SI (serum iron level) >150 µg/dl
TIBC >50%
serum ferritin level >1000 µg/L
Transferrin sat >50%
bone marrow aspirate
liver bx |
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Term
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Definition
early detection
aggressive iron unloading
phlebotomy
chelation – deferoxamine (DFO)
avoid all po iron preps
dietary restrictions are not necessary |
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Term
| what kind of meat should hemochromatosis pt avoid? what else to avoid? |
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Definition
| red meat --also chicken turkey eggs and cereals |
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Term
this is a stem cell disorder where you find this in lab.
Abnormally elevated Hgb or Hct
an increased RBC mass
increased blood viscosity
Can affect O2 delivery to tissues
what is the disease |
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Definition
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Term
| what are the causes of PCV? |
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Definition
Causes:
Relative: dehydration, diuretics
chronic hypoxia (cigarette smoking)
Absolute: Primary
Acquired (polycythemia vera)
Hereditary congenital
Secondary
Altitude, Cardiopulm disorders
Renal cysts, tumors
Hepatoma |
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Term
| what is primary PV associated with? |
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Definition
associated with neoplastic mutation of bone marrow stem cells
chronic panmyelosis
myeloproliferative disorder
overproduction of normal RBCs, WBCs & platelets |
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Term
what happens in secondary PV ?
what happens in relative PV? |
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Definition
Secondary PV: chronic hypoxemia→ ↑ erythropoietin production
Relative PV: dehydration→ ↑in RBC count |
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Term
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Definition
usually occur with Hgb > 18-20g/dl
chronic headache, backache
fatigue with exertion
malaise, weakness
visual disturbances
plethora
pruritus (after bathing)
HTN
thrombosis
mucosal hemorrhage
hepatosplenomegaly |
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Term
| what amount of Hgb could be fatal? |
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Definition
| Hgb > 20g/dl can be fatal. dec mental alertness. marked dec blood flow to vital organs. |
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Term
| what is the aim in tx PCV? |
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Definition
Aim is to ↓ blood volume, viscosity, RBC & platelet counts
phlebotomy q 2-4days (450-500ml) |
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Term
| platelets initiates the first stage of ___________ pathway |
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Definition
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Term
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Definition
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Term
| amount of platelets would be consider thrombocytopenia |
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Definition
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Term
| most common cause of abnormal bleeding? |
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Definition
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Term
| what kind of drugs would cause thrombocytopenia |
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Definition
| thiazide, diuretics and alcohol |
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Term
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Definition
Dx: platelet count
peripheral smear
bleeding time
PT (prothrombin time) –eval extrinsic system & common pathway
PTT (partial thromboplastin time)
TT (thrombin clotting time) |
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Term
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Definition
Evaluates extrinsic system & common pathway
measures factor I,II,V,VII & X
norm = 10-14 sec |
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Term
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Definition
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Term
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Definition
A)PTT(partial thromboplastin time, activated)
evaluates intrinsic system & common
pathway
measures I, II, V, VIII, IX, X, XI & XII
norm = 30-40 sec |
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Term
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Definition
evaluates platelet function
normal = 3 - 7 min |
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Term
| idiopathic thrombocytopenic purpura. what happens in this |
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Definition
| autoimmune IgG disorder where antibodies are produced against platelet |
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Term
| S&S of ITP(idiopathic thrombocytopenic purpura) |
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Definition
I=immune autoimmune disease
T=thrombocytopenic
S&S
petechiae/purpura on skin & mucosa
epistaxis
oral/ gingival bleeding
menorrhagia
rare splenomegaly
P= purpura |
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Term
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Definition
↓ platelets
PT/INR, PTT remain WNL
↑ bleeding time
bone marrow biopsy
platelet associated antibodies |
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Term
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Definition
Rx: acute ITP may resolve spontaneously
corticosteroids (provide good results)
platelet transfusion
Splenectomy
avoid aspirin |
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Term
| platelet count > 400,000 what is the condition called |
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Definition
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Term
| what are 3 types of thrombocytosis? |
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Definition
Transitory: seen after exercise, physical stress
Secondary (reactive): from a response to hemorrhage, infection, malignancy, hemolysis, etc
Primary: seen with PCV and chronic granulocytic leukemia |
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Term
| which phase has idiophathic elevation in platelet production? |
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Definition
thrombocytosis: Pathophysiology
Secondary: idiopathic elevation in platelet production |
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Term
| this phase has release of preformed platelets |
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Definition
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Term
| what phase has abnormal proliferation of megakarocytes in bone marrow |
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Definition
Primary: abnormal proliferation of megakarocytes in bone marrow
Hemorrhage into skin, mucous membranes & GI bleeding are noted
Thrombosis → peripheral vascular ischemia or PE
May be fatal |
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Term
| which phase is treatable in thrombocytosis? |
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Definition
primary.
None with transitory & secondary types
Primary: cytotoxic agent
antiplatelet agents (aspirin, persantine)
plasma exchange with acute bleeding |
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