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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

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

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


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

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

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

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

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

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

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

Disseminated intravascular coagulation

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

Increased urinary ALA synthase, without PBG in the urine
Neurologic symptoms such as seizures, neuropathy
Abdominal pain, diarrhea, no cutaneous photosensitivity

Acute Intermittent Porphyria

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

photosensitivity, vesicles and bulla on sun-exposed areas, liver damage (possibly hepatocellular carcinoma)
most common porphyria, deficiency of uroporphyrinogen decarboxylase, elevated plasma porphyrins (skin, urine, stool, liver)

Erythropoeitic porphyria

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
ferrochelatase deficiency, starts early in life, suspected in patients who have early skin photosensitivity w/o blisters or scarring

Acquired Neutropenia

high fever, chill, stomatitis, peridontitis, sepsis
Caused by infection, B12/Copper/folate deficiency, medications, felty's syndrome (RA, splenomegaly, neutropenia)


Clinical: increased infections, bleeding, bloody diarrhea, sepsis

- Wiskott-Aldrich syndrome (x-linked recessive, IgM deficiency, thrombocytopenia)
- AIDS (Elisa, western blot)
- Chemo/radiation
- Autoimmunity


Fever and malaise, weight loss, fatigue, bleeding (petechiae, bruising), bone nd joint pain, pancytopenia, thrombocytoplenia

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

LAO, fatigue, weight loss, fever, bone and joint pain, dizziness, palpitations, thrills/murmurs, infections

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

Infection, bleeding, gingival swelling, petechiae, fatigue
Auer rods in myeloblasts are Pathognomonic
less responsive to chemo
median onset: 65 years

Chronic Lymphoblastic Leukemia

LAO, splenomegaly, thrombocytopenia, associated with infection of herpes and zoster, infections, bleeding

onset >55 y/o, most common adult leukemia, test: BM biopsy/flow cytometry

Chronic Myelogenous Leukemia

early on- asymptomatic, normal Hct/platelets, splenomegaly, leukocytosis, fe blast cells
accelerated phase- splenomegaly, fatigue, bone pain, fever

median onset: 45 y/o, proliferation of granulocyte cell line
>95% have Philadelphia chromosome, survival 4-6yrs w/ Tx

Hodgkin's Lymphoma

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

splenomegaly, edema of face and neck, ureteral compression (possibly renal failure)
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

fever, anorexia, night sweats, weight loss, painless lymphadenopathy
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

Associated with immunodeficiency and epstein-barr, may have ascitic effusion, rapidly enlarging lymph nodes
age ~60, large prominent nucleoli, Bcl-6 translocation (t14;18)

Burkitt's Lymphoma

Tumors at extranodal sites (often the mandible), large swelling of lymph nodes
diffuse intermediate lymphoid cells, Starry sky pattern, translocation of (8;14), common in African children, associated with EBV

Mycosis Fungoides

Skin lesions, LAO, HSN, lymphocytosis, hypercalcemia, cutaneous neoplasms with infiltration of epidermis and upper dermis
T cell infection with HTCLV-1
Adult T Cell Leukemia

Sezary syndrome

Skin lesions, LAO, HSN, generalized erythroderma without tumors, itching, fever, weakness, weightloss
Adult T Cell Leukemia with cutaneous lymphoid neoplasms (CD4+)

Iron deficiency anemia (facts)

d/t increased iron requirement (preg), dietary deficiency, absorption, blood loss
reticulocyte, serum iron, ferritin decreased
TIBC, RDW increased

Iron deficiency anemia clinically

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
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

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

A thalassemia (major and minor)

1-2 genes = mild anemia
3 genes = lifelong hemolytic anemia
4 genes = fetal death
High: iron, ferritin, reticulocyte

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

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