Heme and GI Flashcards
Microangiopathic hemolytic anemia
- microthrombi from platelets
- shistocytes and helmet cells
artificial heart valves
HUS (shigella or e. coli)
Increased LDH and decreased Haptoglobulin
ITP
Ab to Gp llb/IIIa
Female, 30’s isolated decrease platelets
Bernard Soulier syndrome
Gp ib receptor
Ristocetin test NORMAL
Glanzman thrombasthenia
GP IIb/IIIa def
abciximab mimics this
Aspirin
irreversible inhibits thromboxane A2
hemophilia A
Factor VII def
X linked (male, mat uncle)
Increased PTT
Hemophilia B
Factor IX def
Increased PTT
Von Willebrand disease
Increased bleeding time and PTT
ABNORMAL ristocetin test
tx: desmopression to increase VWF from endothelial cells
Vitamin K
inhibits epoxide reductase
factors II, VII, IX, X
Def: increase PT, PTT but normal BT
Liver failure
increased PT
coag factors synthesized in liver
DIC
decreased platelets
increased PT, PTT
low fibrinogen, increased D-Dimer (fibrin split products)
how to slow fibrinolysis
Aminocaproic acid blocks activation of plasminogen
Protein C or S def
Hypercoag state
Warfarin skin necrosis
Factor V leiden
EUROPEAN
resistance to protein C or S
PE
Iron def anemai
- iron abs in duodenum
- transferrin for transport
3 ferritin for storage
Serum iron low, ferritin iron low, increased TIBC
Microcytic, hypochromic
Koiloychia (spoon finger nails)
Pica (chew dirt, ice, ricks) esp in pregnancy
Sideroblastic anemia
- ALA synthetase def (needs vit B6)
- Fe is stuck in mitochondria
- ringed sideroblasts with prussian blue stain (in marrow)
- Isoniazid (b6 def) can cause this
beta thal
- increased HBA2 and HBf
2. chronic transfusions overtime (cause hemochormatosisi and hemosiferin deposits)
alpha thal
4 gene: hydrops fetalis (Hb Barts)
3 gene: HbH
Hereditary spherocytosis
- cytoskeleton abnl (spectrin, ankyrin)
- lose central pallow
- high RDW, increased LDH, low haptoglobin
4 increased bili (gall stone risk) - pos osmotic fagility tst
- tx: splenectomy
- howell jolly bodies (nuclear DNA)
Sickle cell
glutamic acid -> val
sickling with low O2 (reversible )
tx: hydroxyurea (increases HbF)
At risk for renal papillary necrosis
Paroxysmal nocturna hemoglobinuria
- mediated by complement
- CD55 or CD59 ddef
- blood in urine when waking up
G6PD def
Cannot produce NADPH (glutathion reductase)
x-linked
Primaquine, sufla
Hb with precipitate as heinz body
bite cells
Pure red cell aplasia
thymoma
Auto immune hemolytic anemia
Coomb test pos
Igm: cold agglutination (m pneumonia)
Aplastic anemia
Hypocellular bone marrow
Cells replaced by fat and fibrous tissue
Itchy after shower
polycythemia (decreased ESR)
Filgastrim
cGSF
neutropenia common side effect
IL-5
Eosinophilia by TH2
Mono
EBV or CVM
Saliva
CD8+ t cells (paracortex)
Monspot
EBV: pos
CMV: neg
Atypical lymphocytes
ALL
Tdt pos
blasts > 20%
Down syndrome
T cell version: mediastinal mass
AML
t(15;17) RAR-PML translocation
Auer rods
Risk for DIC
Myeloperoxidase stain
tx: all trans retinoid acid
CML
B cells express CD5, CD19, CD 20
Smudge cells
Mainly mature lymphocytes
hairy cell leukemi
TRAP pos
Lack lymphaenopathy
dry, fibrotic marrow
tx: adenosine deaminase inihbitor j
Mycosis fungoides
cerebiform nuclei
t cell lymphoma
CML
t(9;22) BCR;ABL
Increased tyr kinase inhibitor
Increased basophils and granulocytes
tx: imatinib (blocks tyr kinase)
Leukocyte alkaline phos negative
Polycythemia vera
Jak2 mut
Itchy after shower, h/a, blurry vision
Increased platelets and granulocytes
tx: Phlebotomy or hydroxyurea
Normal O2 sat, low EPO
Non Hodgkins lymphoma
- follicular lymphoma
- mantle cell
- burkitt
Follicular lymphoma
t(14;18) Bcl-2 to Ig heavy chain
tx: rituximab (anti DC 20)\
centrocytes and monoclonal cells (20:1 light chain ratio)
Mantle cell lymphoma
t(11;14)
cyclin D1
Burkitt Lymphoma
EBV, africa, jaw
t(8;14) c-myc activation
high mitotic rate (Ki-67)
tx: chemo
starry sky on histo
Hodgkin Lymphoma
Reedsternburg cells (CD15 and CD30)
Painless, lymphedema, night sweats, pruritis
nodular sclerosing most common type
Multiple myeloma
50-60 yrs old
Increased IL-6, activated RANKL
Lytic lesions hyperCa
M spike of IgG
Rouleaux formation
Langerhans cells
Dendrtitic
Express CD1a and S-100
Birbeck granules (tennis racket)
Intravascular hemolysis
decreased haptoglobin
Increased UCB
Pleomorphic adenoma
In parotid
often recurrs
Warthin tumors
Germinal centers in parotid
Tracheo-esophageal fistual
aspiration
choking, vomit, regurgitation
Can lead to polyhydraminos in fetus
Esophageal web
protrusion of mucosa
Can lead to obstruction
Food will rot and smell
risk for SCC
Common with Plummer vinson syndrome
Plummer Vinson syndrome
- Fe def
- atrophic glossitis
- esophageal webs
Zenker diverticulum
Out pouching of the esophagus-pharynx junction
Cricopharyngeous muscle dysfunction
Mallory Weis
Violent coughing or vomiting
Linear lacerations at GE junction
Painful hematemesis and epigastric pain
HIV pts
Candida
CMV -> linear ulcerations
HSV -> punched out ulcers
Esophageal varices
from portal HTN
Painless unless they rupture
Left gastric and azygous vein
Scleroderma
dysphagia from atrophy of smooth muscle of lower 2/3 of esophagus
Incompetence of LES
Achalasia
- Inability to relax LES
- birds beak on imaging
- damaged ganglion cells in myenteric (auerbach plexus)
- call lead to sCC
tx: Ca channel blockers (nifedipine)
Cancers of Esophagus
- Adenocarcinoma (most common in US due to reflux)
2. SCC (most common in world) middle 1/3 of esphagus
Omphalocele
herniation into umbilical cord
covered with periosteum
Pyloric stenosis
- hypertrophy of smooth muscle wall at pyloric valve
2 projectile,
non-billous vomit with visible peristalsis - olive mass
Curling ulcer
from stress/burns/trauma
Cushing ulcer
from high ICP
Tx of peptic ulcer disease
Amoxicillin
Carithromycin
Omeprazole
Gastric carcinoma
- Nitrosamines
2 signet ring - linitis plastic (thick, leathery wall of stomach)
Kurkenberg tumor
signet rings (from gastric carcinoma) in ovaries
Virchow node
Left supraclavicular node from gastric carcinoma metastasis
Mary joseph node
Sub cutaneous periumbilical nodes from gastric carcinoma metastasis
Leser Trela sign
Acute presence of seborrheic keratosis with gastric carcinoma
Meckel diverticulum
failure of vitelline duct to involute
- meconium through umbilicus
2 Can have gastric and pancreatic tissue - volvulus and inussusception
Duodenal atresia
- bilious emesis within hours of birth
- failure of recanalization of embryonic gut
- common in DS
- distention of stomach with tight pyloric sphincter and blind loop of duodenum
double bubble sign
Direct hernia
Medial to inf epigastric artery
defect in transversalis fascia
Indirect hernia
Lat to inf epigastric artery
most common
Through internal inguinal ring
Gastrinoma
- islet cell tumors of the pancreas
- lead to ZE and duodenal ulcers
- Alson in MEN 1
Celiac
- Blunting of small intestinal vili and inflamm in lamina propria of duodenum
- HLA-DQ2
- IgA and IgG to Gliadin, tissue transglutaminase and endomysial smooth muscle
Whipple disease
Tropheryma Whippleii
1, lamina propria with foamy macrophages
- Schiff pos lysosomal granules
- arthritis and malabs
Abetalipoproteinemia
- AR
- Def of Apo B proteins
- Failure to absorb fatty acids
- cannot form chylomicrons and LDL is decreased
Carcinoid tumor
- Tumor that secretes 5HT
- 5-HiAA in urine
- wheezing, diarrhea, flushing of sin, RHF
tx: octreotide (somatostatin)
Ulcerative colitis
- crypt abscesses
- continuous ulcerations
- HLA B27 (ankylosing spondylitis)
- p-ANCA PSC
- tx: sulfasalazine and mesalamine
Crohns
- Ileum
- transmural inflammation
- Non-caseating granuloma (TH1)
- Skin lesions, cobble stone
- fistula
- risk for Ca stones
tx: infliximab (TNF alpha ab)
Hirschsprung disease
- DS
- Failure of ganglionic cells to descend from neural crest
- absent ganglion cells in rectum
- failure to pass meconium
Arteriovenous malformation
hereditary hemorrhagic telangiectasia
Colonic diverticula
- elderly with hematochezia
- fe def anemia prone
- sx similar to appendicitis on L side
FAP
Mut of APC gene on chr 5
- villous adenoma (fibrovascular stalk with tubular glands and villous components)
- Gardener sx: osteomas in jaw
- Turcot: glioblastoma and medulloblastoma
HNPCC
Lunch sx
AD
DNA mismatch repair mutation
Microsatelite instability
Peutz Jegher
- hamartomatous polyps
- melanin spots in lips and oral mucosa
- AD
Can lead to colorectal cancer
Type 2 DM
amyloid deposits in pancreatic islet cells
Kidney stones in croihns
Cholesteramine
LipoProtein Lipase
ApoC
Absence will lead to elevated chylomicrons after a meal