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54 terms

Blood Disorders SCNM

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Hereditary Hemochromatosis (facts)
autosomal recessive
age 40-60
Common in Caucasians
Elevated serum, transferrin saturation, serum ferritin
Diagnosis with liver biopsy, skin biopsy
Hereditary Hemochromatosis
Clinical:
Fatigue, Cirrhosis, diabetes mellitus, heart failure, skin, hyper pigmentation, RUQ pain, arthritis (joint pain) impotence
Waldenstrom's Macroglobulinemia (facts)
Overproduction of IgM via B-cells
age >60
increased blood viscosity
normochromic, normocytic anemia
Waldenstrom's Macroglobulinemia
Clinical:
Fatigue, bruising, rash, epistaxis, weight loss, vision loss/decrease, anorexia, dizziness, neuropathy, lymphadenopathy
Hyperspenism (facts)
Anemia, spenomegaly, spleen prematurely destroys blood cells, thrombocytopenia
Primary- problem with spleen itself (assoc with EBV)
Secondary- Malaria, RA, TB, polycythemia vera, tumors, hemolytic anemia
Hypersplenism
Clinical:
Bruising, fever, weakness, palpitations, ulcers on mouth/legs/feet, epistaxis, GI/urinary bleeding, premature fullness at meals
Multiple Myeloma (facts)
Proliferation of single clone plasma cell -- IgG or IgA
Renal failure is common, rare, affects older adults
Stage I - Hb >10.5, Hct >32%, Ca-normal, IgG<5, IgA<3, no bone lesions
Stage III - Hb <8.5, Hct<25%, Ca- elevated, High IgG, IgA, and bence-jones proteins
Multiple Myeloma
Clinical:
tiredness, shortness of breath, fatigue, Severe bone pain, unexplained fractures, back pain, bleeding problems, susceptibility to infection, renal failure
Henoch Schonlein Purpura (facts)
Affects children, follows an acute respiratory infection, diagnose with skin biopsy to show leukocytoclastic vasculitis
Benign self-limiting
major concern is renal failure
Characterized by IgA-dominant immune complexes in smaller venules, capillaries, and arterioles
Henoch Schonlein Purpura
Clinical:
Rash on lower extremities and face, migratory arthritis, abdominal pain, renal involvement, arthritis (no Rh factor)
Idiopathic Thrombocytopenia Purpura (facts)
Antibodies form against platelets, frequently preceded by URI or viral infection,
children it is acute non-recurrent, adults is more chronic
Tx: platelets (for acute bleeding), steroids (if low platelet count), splenectomy (curative)
Idiopathic Thrombocytopenia Purpura
Clinical:
bleeding, petechiae, CNS bleeding, bleeding in gums (possibly increased uterine bleeding)
Thrombotic Thrombocytopenia Purpura (facts)
Due to inhibitor of von-Willebrand factor cleaving protease: unchecked platelet aggregation, Life-threatening
thrombi formation, consumption of platelets
associated wit pregnancy, crack cocaine, OCP
age 10-40 (peak at 25)
Tx: plasma exchange
Thrombotic Thrombocytopenia Purpura
Clinical:
Hemolytic anemia (schistocytes, helmet cells), elevated LDH, fever, renal failure, mental changes
Hemolytic Uremic Syndrome (facts)
in infants, children, or postpartum
Fibrin strands from in blood vessels
Caused by Bacteria (e.g. O157:H7, Shigella), Drugs (e.g. chemo), HIV/Cancer
Hemolytic Uremic Syndrome
Clinical:
abdominal pain, diarrhea, vomiting followed by HTN, edema, GI bleeding, renal failure,
Von Willebrand's Disease (facts)
hereditary coagulation- autosomal dominant
abnormal synthesis of vWF causes decreased platelet adhesion and decreased serum levels
Intrinsic pathway coagulation defect (increased PTT)
Von Willebrand's Disease
Clinical:
mild bleeding, bruising, GI bleeding, menorrhagia, epistaxis
(does not have hematoma and hemearthrosis)
Disseminated Intravascular Coagulation (facts)
Occurs as a result of obstetric complications, infection (gram negative), malignancy, trauma, surgery, snake

elevated PT or PTT, elevated fibrin split products
schistocytes
Disseminated intravascular coagulation
Clinically:
Skin necrosis, petechiae, ecchymoses,
Initially coagulation and formation of microthrombi, followed by serious bleeding (thrombocytopenia)
Hemophilia A
X linked recessive, diagnosis by factor VIII assay, PT and thrombin clot time are normal, PTT elevated or normal
Hemophila B
x linked recessive, factor IX assay
ALA Dehydratase Deficiency
Clinical:
Increased urinary ALA synthase, without PBG in the urine
Neurologic symptoms such as seizures, neuropathy
Abdominal pain, diarrhea, no cutaneous photosensitivity
Acute Intermittent Porphyria
clinical:
poorly localized abdominal pain and cramping, decreased abdominal sounds, nausea, vomiting, constipation, tachycardia, hypertension, mental symptoms, body pain, weakness
Facts: autosomal dominant, relegated to drugs/diet/steroids, PBG deaminase deficiency
Porphyria Cutanea Tarda
Clinical:
photosensitivity, vesicles and bulla on sun-exposed areas, liver damage (possibly hepatocellular carcinoma)
Facts:
most common porphyria, deficiency of uroporphyrinogen decarboxylase, elevated plasma porphyrins (skin, urine, stool, liver)
Erythropoeitic porphyria
Clinical:
cutaneous photosensitivity, painful burning/itching sensations, angioedema after sun exposure (no blisters), gross hematuria
Protoporphyrin concentrations in RBC are markedly increased but urine porphyrins are not
Facts:
ferrochelatase deficiency, starts early in life, suspected in patients who have early skin photosensitivity w/o blisters or scarring
Acquired Neutropenia
Clinical:
high fever, chill, stomatitis, peridontitis, sepsis
Facts:
Caused by infection, B12/Copper/folate deficiency, medications, felty's syndrome (RA, splenomegaly, neutropenia)
Lymphopenia
Clinical: increased infections, bleeding, bloody diarrhea, sepsis

Facts:
<1000lymphocytes/ul
Causes:
- Wiskott-Aldrich syndrome (x-linked recessive, IgM deficiency, thrombocytopenia)
- AIDS (Elisa, western blot)
- Chemo/radiation
- Autoimmunity
Leukemia
Clinical:
Fever and malaise, weight loss, fatigue, bleeding (petechiae, bruising), bone nd joint pain, pancytopenia, thrombocytoplenia

Facts:
malignancy in the BM, displacement of bone marrow (spreads to liver, spleen and lymph), increased for Downs syndrome, hypercellular bone marrow with blasts
Acute Lymphoblastic Leukemia
Clinical:
LAO, fatigue, weight loss, fever, bone and joint pain, dizziness, palpitations, thrills/murmurs, infections

Facts:
peak age 3-5 years, very sever and intense (<4wks to sx)
abnormal B cell lymphoid clones
Dx with BM biopsy, CALA antigen on lymphoblastic cells
(note: 90% remission with tx)
Acute Myelogenous Leukemia
Clinical:
Infection, bleeding, gingival swelling, petechiae, fatigue
Facts:
Auer rods in myeloblasts are Pathognomonic
less responsive to chemo
median onset: 65 years
Chronic Lymphoblastic Leukemia
Clinical:
LAO, splenomegaly, thrombocytopenia, associated with infection of herpes and zoster, infections, bleeding

Facts:
onset >55 y/o, most common adult leukemia, test: BM biopsy/flow cytometry
Chronic Myelogenous Leukemia
Clinically:
early on- asymptomatic, normal Hct/platelets, splenomegaly, leukocytosis, fe blast cells
accelerated phase- splenomegaly, fatigue, bone pain, fever

Facts
median onset: 45 y/o, proliferation of granulocyte cell line
>95% have Philadelphia chromosome, survival 4-6yrs w/ Tx
Hodgkin's Lymphoma
Clinically:
painless swelling of nodes, recurrent fevers, night sweats, weight loss, pruritis

Facts: bimodal age (13-34, >45), associated with EBV
Staged by # of sites (1-one site, 2- 2 sites same side of diaphragm,3- both sides of diaphragm 4- extensive)


Histologic appreances
1. Nodular sclerosis- Most common, tough gray nodules,
2. Mixed cellularity - RS cells, lymphocytes, eosinophils, more common in older adults
3. Lymphocyte predominance- mostly B (few reed sterberf), uniform/soft nodes
4. Lymphocyte depletion - mostly R-S cells, uncommon, poor prognosis
Non-Hodgkin's Lymphoma
Clinically:
splenomegaly, edema of face and neck, ureteral compression (possibly renal failure)
Facts:
age- 45-60, more common than Hodgkins, mostly cases occuri n B-cells
-Superior mediastinal syndrome nodes put pressure on SVC (causes the facial edema)
Follicular Lymphoma
Clinically:
fever, anorexia, night sweats, weight loss, painless lymphadenopathy
Facts:
Most common NHL Nodular/diffuse growth patter with BM, spleen, and liver aggregates
translocation of 14;18, over expression of BCL-2 gene
Diffuse Large B cell lymphoma
Clinically:
Associated with immunodeficiency and epstein-barr, may have ascitic effusion, rapidly enlarging lymph nodes
Facts:
age ~60, large prominent nucleoli, Bcl-6 translocation (t14;18)
Burkitt's Lymphoma
Clinically:
Tumors at extranodal sites (often the mandible), large swelling of lymph nodes
Facts:
diffuse intermediate lymphoid cells, Starry sky pattern, translocation of (8;14), common in African children, associated with EBV
Mycosis Fungoides
Clinically:
Skin lesions, LAO, HSN, lymphocytosis, hypercalcemia, cutaneous neoplasms with infiltration of epidermis and upper dermis
Facts:
T cell infection with HTCLV-1
Adult T Cell Leukemia
Sezary syndrome
Clinically:
Skin lesions, LAO, HSN, generalized erythroderma without tumors, itching, fever, weakness, weightloss
Facts:
Adult T Cell Leukemia with cutaneous lymphoid neoplasms (CD4+)
Iron deficiency anemia (facts)
d/t increased iron requirement (preg), dietary deficiency, absorption, blood loss
Labs:
reticulocyte, serum iron, ferritin decreased
TIBC, RDW increased
Iron deficiency anemia clinically
pallor
spooning nails, glossitis, tachycardia and flow murmur, pagophagia
Anemia of Chronic Disease
2nd most common cause, 30% microcytic
caused by chronic infections (TB), chronic inflammation (RA, IBD), renal/liver disease, DM
- shortened RBC survival, inability of transferrint to mobilize iron from macrophages, decreased BM response to EPO, decreased EPO, decreased transferrin
Labs:
DECREASED: TIBC, reticulocyte, serum iron,
INCREASED: ferritin
Pernicious anemia facts
B12 deficiency
D/t crohns, celiac, inadequate intake
Low: B12, reticulocyte
High: MCV
do Schilling (radioactive B12 absorption for IF)
Pernicious anemia (clinically)
anorexia, diarhhea, weight loss, glossitis
numbness, ataxia, parasthesia
+ babinski, loss of proprioception
sphincter dysfunction
Folate deficiency
d/t poor intake among alcoholics, high demand in pregnancy
must r/o b12 def
High: MCV
B-thalassemia minor
mild to moderate anemia, jaundice, splenomegaly
prominent microcytosis and hypochromia, basophilic stippling
High: iron, ferritin, reticulocyte
Low: MCV, TIBC
B thalassemia major
presents at 4-6mos
fatal by late childhood. wasting, jaundice, slow growth
severe anemia, splenomegaly, BM hyperactivity
(crew cut xray, overgrowth of facial bones)
hepatic siderosis
High: iron, ferritin, reticulocyte
Low: MCV, TIBC
A thalassemia (major and minor)
1-2 genes = mild anemia
3 genes = lifelong hemolytic anemia
4 genes = fetal death
High: iron, ferritin, reticulocyte
Low: MCV, TIBC
G6PD/Pyruvate Kinase Deficiency
X-linked recessive
instrinsic hemolytic anemia, usually occurs when exposed to drugs or inffections causing oxidative stress
Sickle Cell Anemia
AR, intrinsic hemolytic anemia
vasooclusive crises common
Clinically- high infection, splenomegaly, pain crises, dactylitis
Diagnoses with Hb electrophoresis and peripheral smear (target cells, sickle cells and howell-jolly bodies)
Polycytehmia Vera
increased Hct
Sx: fatigue, weakness, dizziness, HA, itching after warm bath, purpura, palpable spleen, thrombosis and hemorrhage
Hereditary Spherocytosis
Autosomal dominant intrinsic hemolytic anemia
deficiency of spectrin,
Splenomegaly, gallstones, aplastic crisis,
positive osmotic fragility, increased reticulocyte count, increased MCHC, increased indirect bilirubin
Aplastic anemia
Failure of multipotent myloid stem cells, pancytopenia
d/t drugs, infections, idiopathic
normocytic normochromic
petechiae, ecchymosis,
NO HSM or reticulocytosis