Anemia EnigmasCase Reviews
Allan Platt, PA-C, MMSc, DFAAPAFaculty, Physician Assistant ProgramEmory University School of Medicine
Atlanta, [email protected]
Disclosure
I have nothing to disclose except
I do work for food
I promote giving Blood
The Anatomy of a Lab report
Allan Platt, PA-C, MMSc
Lab Report
Most common labs
CBC WBC Diff
RBC morphology
Retic count
Metabolic Profile
UA with micro
Coagulation PT (INR)
aPTT
d-Dimer
PFA
Lab - CBC Cost $10 WBC count –infection
defense Platelet count – clot
ability Red Cells – O2, CO2,
CO, NO gas transport, Buffer Hb – Hemoglobin Hct = % red
cells/plasma MCV = size of RBCs MCH = Hb inside =
Redness RDW – red cell
distribution width –higher = cells of different sizes
Lab – CBCDiff and Retic
Cost $10 -15 Do diff when WBC is
high or low, chemo/drug monitoring Bands = early
Neutrophils Neutrophils – Bacteria Lymphs – (B, T,
NK)Viral Mono – TB, HIV, Mono Eos – Allergy, parasites Baso – Mast cell,
allergy
Retic count – when suspect anemia or monitor therapy. Must be corrected
Lab -Metabolic Cost $16 for CMP Electrolytes
Sodium (Na+) – maintains osmotic pressure, acid/base, nerve impulse transmission
Chloride (Cl-) – acid/base and water balance
Potassium (K+) – nerve conduction, muscle function, acid/base, osmotic pressure
Calcium (Ca2+) - muscle, nerve, cardiac function, clotting
Bicarb (CO2) – Renal acid buffer to maintain pH
Other Glucose (Glu) Carbon Dioxide (CO2) Blood Urea Nitrogen (BUN) Creatinine (Creat) Albumin (Alb) Bilirubin (T Bili or D Bili) Aspartate transaminase /
aminotransferase (AST) Alanine transaminase /
aminotransferase (ALT) Alkaline Phosphatase (Alk Phos) Gamma glutamyl transferase
(GGT) Creatine phosphokinase (CPK) Lactate dehydrogenase (LDH) Total Protein (Prot) Uric Acid (Uric)
Lab –Metabolic Other
Glucose (Glu) DM, hypo -CNS
Blood Urea Nitrogen (BUN) - Renal
Creatinine (Creat) Renal Albumin (Alb) Liver
production or Renal loss Bilirubin (T Bili =D Bili +
I Bili) D Bili – Liver/GB, I Bili = pre liver Hemolysis
Aspartate transaminase / aminotransferase (AST) -Liver
Alanine transaminase / aminotransferase (ALT) -Liver
Alkaline Phosphatase (Alk Phos) Bile Duct/GB/ Bone
Lactate dehydrogenase (LDH) – Hemolysis, tissue damage
Total Protein (Prot) –Liver, myeloma, malnutrition
Uric Acid (Uric) Renal/Gout
Lab - Urine Cost - $4
Specific Gravity (1.005-1.030) – how concentrated?
pH (4.6-8) – acid/base balance
Blood (-) – infection? trauma? MP? Other?
Protein (-) – renal pathology? DM? due to blood in urine?
Leukocytes/Leukocyte Esterase (-) - infection?
Nitrite (-) – bacterial infection?
Albumin (-) – renal pathology? DM? due to blood in urine?
Glucose (-) – DM? renal pathology?
Ketones (-) – Diabetic Ketoacidosis? Diet?
Bilirubin (-) – Liver or biliary tract damage? Hemolysis?
Urobilinogen + unobstructed bile ducts
RBCs – stones, CA, bleed WBC – infection Casts – Kidney origin
Lab - Coag
PT /aPTT $9 D-Dimer/PFA $30 PT= Prothrombin Time
= INR = extrinsic vitamin K clotting system (Coumadin)
aPTT= activated Partial Thromboplastin Time = Intrinsic clotting system (Heparin)
D-Dimer = Clot breakdown < or =250 ng/mL D-Dimer Units (DDU)
< or =0.5 mcg/mL Fibrinogen Equivalent Units (FEU)
PFA = Platelet Function Analysis = Platelet functioning
Case #1
A 54 year old civil engineer presents with 1 month
history of increasing fatigue, dyspnea on
exertion, and increasing mid epigastric pain. His
only medication use is acetaminophen for
occasional headaches. He does not smoke, use
recreational drugs, and no alcohol. He has not
had any medical care for 10 years. His lab slip
is attached. What test(s) would be indicated and
the best treatment plan?
Case 1 Lab
Case 1 Question
A. Order Vitamin B12 and Folate levels, change to long acting
NSAID, Follow-up 1 month
B. Order Iron studies with Ferritin, If low, do Stat GI Consult for
colonoscopy to R/O Colon Cancer
C. Stat Hematology consult for bone marrow biopsy
D. Give a PPI and f/u in 6 months
Anemia Diagnosis
Loosing red cells (high retic count)
Bleeding
Hemolysis (High indirect Bili and LDH)
Not making enough – (low retic count)
Low materials – Fe, B12, Folate
Low epo (Kidney disease)
Marrow problem (replaced, toxin….)
Diagnostic PathwayReticulocyte Production Index
<2 Decreased Production>2 Increased Loss
Red Cell Indicies MCVHemolysis Bleeding
>94 80-94<80MacroNormo Micro Extrinsic Intrinsic
Coombs CoombsPositive Negative
Drug Warm ColdAntibody Antibody
Membrane Hb Enzyme
Anemic- Lab –CBC, Retic, RBC
morphology, Metabolic Profile, UA
Retic Production index < 2 –
Marrow Production
Problem
Check MCV
MCV <80 –Microcytic
Order Iron studies, HbELP,
Lead Level
MCV 80 – 100 Normocytic
Order West SedRate, TSH, Renal
Hepatic, PregTest
MCV > 100 Macrocytic
Order B12, RBC and serum
Folate
Retic Production Index >2 RBC
Loss
Bleeding or Hemolysis
Increased Indirect Bilirubin and LDH =
Hemolysis
Order Coombs, HinzeBody stain, HbELP
Bleeding
Anemia – low Hb/Hct Lab work-up BPH = Bleeding/Production/Hemolysis
Microcytic
MICROCYTIC = "TICS"
T-Thalassemias
I-Iron Deficiency
C-Chronic Inflammation
S-Sideroblastic -lead, drug, or hereditary
Microcytic Tests
TESTS TO ORDER: Serum Iron
TIBC = Transferrin binding sites
% Saturation = Transferrin saturation with Iron
Ferritin = Storage Iron
HBELP = Hemoglobin Electrophoresis
Lead level if exposed
Microcytic workupTICS – Thalassemia, Iron Deficiency, Chronic inflammation, Sideroblastic (Lead)
Iron studies (Ferritin) Low
Yes = Iron Deficiency
Work up for Chronic Blood loss
– GI, MensesDiet
No, West Sed rate CRP elevated-
Inflammatory Block
No, Lead Level elevated –
Chelation therapy
No, Abnormal HbELP?
Yes = Thalassemia – Refer to
hematologist if severe
Refer to Hematologist for Bone Marrow Bx
Iron deficiency Low Serum iron, Low
Ferritin, High TIBC
Find out why –GI bleed, menses, diet, H pylori, celiac disease
Treat FeSO4 300mg tid
Add vitamin C/meat to increase absorbtion
Follow up Retic increase 1 week, Ferritin 1 month
Case 1 Answer
A. Order Vitamin B12 and Folate levels, change to long acting
NSAID, Follow-up 1 month
B. Order Iron studies with Ferritin, If low, do Stat GI Consult for
colonoscopy to R/O Colon Cancer
C. Stat Hematology consult for bone marrow biopsy
D. Give a PPI and f/u in 6 months
In men and non-menstruating women younger than 65 years, screening for occult gastrointestinal cancer should be undertaken in the absence of another explanation for iron deficiency. http://www.aafp.org/afp/2007/0301/p671.html
Case #2
A 50 year old factory worker presents with 1 month
of feeling weak and non-vertigo dizziness. He has
not had any injury, prolonged travel, or unusual
exercise. He has a past history of hypertension
diagnosed 20 years ago, but stopped medication
after 1 year. He smokes 1 pack per day for 30
years, He does not use recreational drugs, and old
drinks a few beers on the weekend. His lab slip is
attached. What is the most likely diagnosis?
Case #2 Labs
Case #2 Question
A. Low erythropoietin anemia B. Anemia from aplastic bone marrow C. Anemia secondary to hemolysis D. Anemia from multiple myeloma
Normocytic Anemia NORMOCYTIC = "NORMAL SIZE"
N-Normal Pregnancy
O-Over hydration, Drowning
R-Renal Disease
M-Myelophthistic – Marrow replaced
A-Acute Blood Loss
L-Liver Disease
SI-Systemic Infection/Inflammation
Z-Zero Production- Aplastic anemia
E-Endocrine: Hypothyroid, hypoadrenal, decreased androgen
Normocytic Tests
Blood Urea Nitrogen (BUN), Creatinine, SGOT, Alkaline Phosphatase, Bilirubin, Erythrocyte Sedimentation Rate (ESR), Urinalysis, and Thyroid profile
Renal Function tests
Pregnancy Test
Bone Marrow Biopsy
Normocytic workup“NORMAL SIZE”
Check BUN/Creat/ Liver, UA, West Sed Rate, Preg
Test
BUN/Createlevated or
abnormal UA
Work up for Renal Disease and Low
EPO
TSH elevated = Hypothyroid
AST/ALT/AlkP –Liver disease
West Sed rate elevated-
Inflammatory Block
Pregnancy test +
Prenatal carePancytopenia
No - Repeat CBC, Retic in 2 week
Refer to Hematologist for Bone Marrow Bx
Red Blood Cells - The Kidney
Erythropoietin is made by
the kidney as a signal to
the bone marrow to make
more red cells
Normocytic - Renal Failure
Anemia caused by decrease erythropoetin production causing decreased bone marrow production
Can monitor erythropoetin levels
Treat with epoetin alfa injections weekly or darbepoetin alpha every other week or monthly
Check for Iron deficiency (altered metabolism) – May need to suppliment
Case #2 Answer
A. Anemia low erythropoietin B. Anemia from aplastic bone marrow C. Anemia secondary to hemolysis D. Anemia from multiple myeloma
http://emedicine.medscape.com/article/1389854-overview#a1
Case #3
A 40 year old female with rheumatoid arthritis presents with increasing fatigue. She is taking a long acting NSAID for daily joint pain. Her lab slip is attached. What is the most likely cause?
Case 3 Labs
Case 3 Questions
A. Vitamin B12 Deficiency
B. Elevated hepcidin levels
C. Low erythropoietin levels
D. Low androgen levels
Microcytic workupTICS – Thalassemia, Iron Deficiency, Chronic inflammation, Sideroblastic (Lead)
Iron studies (Ferritin) Low
Yes = Iron Deficiency
Work up for Chronic Blood loss
– GI, MensesDiet
No, West Sed rate CRP elevated-
Inflammatory Block
No, Lead Level elevated –
Chelation therapy
No, Abnormal HbELP?
Yes = Thalassemia – Refer to
hematologist if severe
Refer to Hematologist for Bone Marrow Bx
Chronic Inflammation
Block of normal iron stores transport to bone marrow factory
Normal Ferritin, serum iron and TIBC are low with a low saturation
30% Microcytic, 70% Normocytic
High Sed rate or C-reactive protein
Treat inflammation – RA, SLE, HIV….
Hepcidin
Decreased levels
increase iron
absorption and
release from cells –
Hormone
made in the
liver
Increased levels
blocks absorption of
Iron and cell release
- inflammation IL6
Case 3 Answer
A. Vitamin B12 Deficiency
B. Elevated hepcidin levels
C. Low erythropoietin levels
D. Low androgen levels
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3624997/
Case #4
A 60 year old retired male presents with 1 month increasing weakness and increasing low back pain. He does not smoke, use recreational drugs, or drink alcohol . His lab slip is attached. What is the most likely diagnosis?
Case 4Labs
Case 4 Question
A. Chronic Lypmphocytic Leukemia
B. Non Hodgkins Lymphoma
C. Multiple Myeloma
D. Metastatic Lung cancer
Emory University Physician Assistant Program
Multiple Myeloma
Symptoms and Signs - Itching, Bone pain, weakness, anemia, lytic bone lesions, increased protein, M - Spike, Bence Jones protein in urine, Renal failure, rouleaux formation
Case 4 Answer
A. Chronic Lypmphocytic Leukemia
B. Non Hodgkins Lymphoma
C. Multiple Myeloma
D. Metastatic Lung cancer
Case 4– Multiple Myeloma with increased serum and urine protein –would confirm with SPEP and Urine for Bence Jones protein. Oncology referral for Bone Marrow Bx. Anemia and low platelets from marrow replacement with plasma cells. http://asheducationbook.hematologylibrary.org/content/2007/1/158.full
Case #5
A 60 year old retired battery factory worker presents with 3 months increasing weakness, dyspnea on exertion, and increasing gum and nose bleeding. He does not smoke, use recreational drugs, or drink alcohol. His lab slip is attached. What is the most likely diagnosis?
Case 5 Labs
Case 5 Question
A.Chronic Lymphocytic Leukemia with
lead toxicity
B.Non Hodgkin’s Lymphoma with
mercury toxicity
C.Multiple Myeloma with iron overload
D.Acute Lymphocytic Leukemia with
anemia from marrow replacement
Microcytic workupTICS – Thalassemia, Iron Deficiency, Chronic inflammation, Sideroblastic (Lead)
Iron studies (Ferritin) Low
Yes = Iron Deficiency
Work up for Chronic Blood loss
– GI, MensesDiet
No, West Sed rate CRP elevated-
Inflammatory Block
No, Lead Level elevated –
Chelation therapy
No, Abnormal HbELP?
Yes = Thalassemia – Refer to
hematologist if severe
Refer to Hematologist for Bone Marrow Bx
Sideroblastic (Lead) Ring sideroblasts in bone
marrow
Lead exposure – Battery, glass worker, Water supply
Serum iron is increased and TIBC normal resulting in a high saturation. Serum ferritin is increased
RBC Basophillic stippling
Lead level is easy to get
Bleeding - PVC pipes Platelets
Not enough below 100,000 – production, destruction, sequestration
Not working –ASA, NSAIDs, Uremia, Congenital
Von Willebrands Disease-Type 1 most common
Clotting Factors
Most common: VIII, IX
Vitamin K Deficiency, Liver Disease
Pipes - Vasculitis, Scurvy, Ehlers-Danlos, Heritary Hemorrhagic Telangiectasias, Steroids
Palpable Purpura – Sepsis, Meningococcemia, Henoch-Schonlein purpura, Drugs
Bleeding Test- PVC-Pipes Platelets – Enough? CBC platelet count
Do they work – PFA (Bleeding time)
vWF – abnormal PFA and aPTT (Factor VIII depends of vWF) do vWF analysis
Clotting Factors – PT and aPTT if either abnormal – do Mixing study – if corrects do Factor levels VIII, IX. If both PT and aPTT abnormal do TT Thrombin time
CMP, UA (Renal or Hepatic causes)
Pipes – Vasculitis C-Reative Protein, ESR, Biopsy
Thrombocytopenia Production
Nutritional B12 or Folate Deficiency
Congenital – Alports syndrome, Fanconi anemia, Wiscott-Aldrich syndrome
Marrow damage – aplastic anemia, chemotherapy, drugs, maligancy – myeloma or leukemia, radiation, mylodysplasia
Destruction
Immune – (Positive Platelet Associated Antibody test or HIT assay) ITP, Drug, HIV, SLE, HIT
Non-Immune- DIC, TTP, Preeclampsia, HELLP syndrome Anti-phospholipid syndrome
Sequestration- Liver, spleen, marrow -myelofibrosis, cancer
There is a song for that
Friends With Low Platelets | Garth Brooks Parody | ZDoggMD.com
https://www.youtube.com/watch?v=-rwcIRfHcAE
Emory University Physician Assistant Program
CLL
Emory University Physician Assistant Program
Leukemia ALL: Acute Lymphocytic Leukemia (Usually in Children) AML: Acute Myelogenous Leukemia CLL: Chronic Lymphocytic Leukemia (Usually Adults – minimal symptoms) CML: Chronic Myelogenous Leukemia
HX: Fatigue, anorexia, wt loss, fever, bone pain, headaches, lymphadenopathy, non healing infections, thrush, bleeding (Nose, gums, GI, menses)
PE: Pallor, gingival hyperplasia, Candida infections, lymphadenopathy, hepatosplenomegaly, lung infiltrates, bleeding, bruising
LAB: CBC: elevated WBC/ low platelets, low Hct, WBC Differential, Chem 18, Bone Marrow Biopsy
Philadelphia Chromosome seen in CML Auer bodies or rods in AML CT - MRI chest and abdomen CXR - Chest infiltation, pneumonias RX: Chemotherapy, Bone Marrow Transplant
Case 5 Answer
A.Chronic Lymphocytic Leukemia with lead toxicity
B.Non Hodgkin’s Lymphoma with mercury toxicity
C.Multiple Myeloma with iron overload
D.Acute Lymphocytic Leukemia with anemia from
marrow replacement
Case 6 – CLL – Low Hb and Platelets with high WBCs mainly mature Lymphs. Refer to oncology for Bone Marrow Biopsy and monitoring http://emedicine.medscape.com/article/199313-overviewhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668148/#B66
Case #6
A 28 year old female nurse presents with 1 year of heavy menses, increasing weakness. She does not smoke, use recreational drugs, or drink alcohol. Her physical exam including pelvic is normal. Her lab slip is attached. What is the most likely cause of her anemia?
Case 6Labs
Case 6 Question
A. Iron Deficiency secondary to fibroids
B. Thalassemia minor
C. Iron deficiency and Von Willebrand
Disease
D. Lead toxicity
Clotting Tests for bleeding
Test/Disease PT aPTT PFA Platelet Ct
vWD Normal Increased Abnormal Normal
Hemophilia A/B heparin, lupus
Normal Increased Normal Normal
DIC Increased Increased Abnormal Low
Uremia Normal Normal Abnormal Normal
Aspirin NSAIDs Normal Normal Abnormal Normal
Early: Liver DzVit K def, F VII coumadin
Increased Normal Normal Normal
Late Liver Dz Increased Increased Normal Low
ITP, TTP, HUS,HIT
Normal Normal Normal Low
Von Willebrand Disease Most common inherited bleeding disorder
Found in approximately 1% of the population
Most individuals are asymptomatic unless a significant bleeding event occurs
Blood Group O individuals have significantly lower vWF than other groups (30% lower)
vWF stabilizes Factor VIII so any decrease in vWF will increase aPTT and platelet function analysis will be abnormal
Von Willebrand Disease Measure vWF antigen (vWF:Ag)
How much protein is present?
Measure vWF activity (Ristocetin Cofactor) How well is the protein working?
Measure Factor VIII activity How well is vWF stabilizing Factor VIII?
Evaluate pattern of von Willebrand multimers by electrophoresis Important for classification of disease (6 types)
and therapeutic management
Treat most common cause with DDAVP
Case 6 Answer
A.Iron Deficiency secondary to fibroids
B.Thalassemia minor
C. Iron deficiency and Von Willebrand
Disease
D.Lead toxicity
Case 7 – Menorrhagia from Von Willebrand disease (VWD) with elevated aPTT (not stabilizing Factor VIII and abnormal PFA (super glue of Platelets) Iron def anemia (Microcytic low retic) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3913143/
Case #7
A 40 year old male auto mechanic was treated 3 days ago with “Bactrim for a MRSA skin infection. He is now weak and dizzy. His lab slip is attached. What lab test would be most likely positive?
Case 7Labs
Case 7 Question
A. Hemoglobin Electrophoresis
B. Indirect Coombs test
C. Direct Coombs test
D. Heinz Body Stain
Hemoglobin RecycledBilirubin must be Directed
through the Liver to be
Conjugated
Liver
Indirect
Bilirubin
Hemoglobin
Direct
Bilirubin
LDH - Lactate
Dehydrogenase
Iron – Fe bound
to Transferrin Kidney -
Hemoglobinuria
Hemolytic Signs
• 1. Elevated reticulocyte count, with stable or falling hemoglobin.•
• 2. Elevated indirect bilirubin -
• 3. Eevated serum lactate dehydrogenase (LDH)-
• 4. Decreased Haptoglobin levels - Haptoglobin binds hemoglobin released in the plasma from red cell breakdown.
• 5. Hemoglobinemia and hemoglobinuria
• 6. Erythroid hyperplasia in bone marrow in chronic hereditary causes
• 7 Abnormal Hemoglobin Electrophoresis
Hemolysis (HIT)• Hereditary (HEM)
– Hemoglobin (sickle cell, thalassemia)
– Enzyme (G6PD deficiency)
– Membrane (Spherocytosis, Eliptocytosis)
• Immune attack – Coombs positive (transfusion, IgM – cold antibody-infections, IgG warm antibody – Drug induced, PNH)
• Trauma– Microangiopathic ( TTP, ITP, HUS, DIC, HIT, HELLP- Eclampsia, Malaria, Splenomegaly)
Hemolytic Tests• 1. The direct antiglobulin (Coombs') test Direct Coombs
test looks for antibody on the red cells. The Indirect Coombs looks for antibody in the serum.
• 2. Hemoglobin electrophoresis
• 3. Heinz body stain
• 4. Osmotic fragility
• 5. Blood smear
HemolysisRetic Production Index > 2, high LDH High indirect Bilirubin
Coombs or DAT
No – Heinz body +
Yes = G6PD Deficiency
No – HbELP abnormal+ Hemoglobinopathy –SS, SC, SD S beta Thal
Thalassemia
Yes
Warm Antibody Cold Antibody
No – RBC Morphology+
Shistocytes and Low Platelets in DIC, HIT,
TTP, HELLP
Enzyme - G6PD - Glucose - 6 - Phosphate Dehydrogenase Deficiency
X linked genetic
Precipitated by oxidant drugs
Heinz body stain shows denatured
Hemoglobin
Smear may show “Bite” cells
Avoid medications such as
antimalarials, aspirin, sulfa drugs,
and avoid eating fava beans.
Case 7 Answer
A. Hemoglobin Electrophoresis
B. Indirect Coombs test
C. Direct Coombs test
D. Heinz Body Stain
Case #8
A 40 year old healthy male has had life long anemia that will not correct with supplemental iron. His lab slip is attached. What supplement is indicated?
Case 8 Labs
Case 8 Question
A. Vitamin B12
B. Folic Acid
C. Parenteral Iron
D. Vitamin C with oral FeSO4
Microcytic MICROCYTIC =
"TICS"
T-Thalassemias
I-Iron Deficiency
C-Chronic Inflammation
S-Sideroblastic -lead, drug, or hereditary
Microcytic Tests
TESTS TO ORDER: Serum Iron
TIBC = Transferrin binding sites
% Saturation = Transferrin saturation with Iron
Ferritin = Storage Iron
HBELP = Hemoglobin Electrophoresis
Lead level if exposed
Thalassemia Syndromes. Hereditary – Alpha or Beta
chain
Decrease Hemoglobin A
Hemoglobin ELP abnormal and normal Ferritin are diagnostic
Hemolysis (increased indirect Bili and LDH)
Target Cells, low MCV
Supportive therapy, Folic acid, transfusion, BMT
Case 8 Answer
A. Vitamin B12
B. Folic Acid
C. Parenteral Iron
D. Vitamin C with oral FeSO4
http://emedicine.medscape.com/article/201066-treatment
http://www.medscape.com/viewarticle/580999_3
Case #9
A 20 year old female college student has 2 weeks of non-productive cough, malaise and sore throat. She has bilateral rhonchi on lung exam. Here sclera is slightly jaundiced. Her lab slip is attached. What lab test would be most likely be positive?
Case 9 Labs
Case 9 Question
A. Monospot
B. Mycoplasma Antigen
C. Hemoglobin electrophoresis
D. Legionella Antibody
Case 9
Diffuse infiltrates
Hemolytic anemia
IgM - Cold antibody
Case 9 Answer
A. Monospot
B. Mycoplasma Antigen
C. Hemoglobin electrophoresis
D. Legionella Antibody
http://emedicine.medscape.com/article/135327-
overview
http://emedicine.medscape.com/article/223609-
overview
Case #10
A 40 year old male with Type 2 DM had gastric bypass surgery 2 years ago and has lost weight and maintained Hb A1C at 5.4. Now 1 month Hx bilateral foot numbness, weak and dizzy. He is on no medications. His lab slip is attached. What is the most likely cause of these symptoms?
Case 10 Labs
Case 10 Question
A. Diabetic Neuropathy
B. Lead toxicity
C. Vitamin B12 deficiency
D. Lesch-Nyhan Syndrome
Macrocytic Anemia MACROCYTIC = "BIG FAT RED CELLS“Or my “BF”
B-B12 Malabsorbtion I-Inherited G-Gastrointestinal disease or surgery
F-Folic Acid Deficiency A-Alcoholism T-Thiamine responsive
R-Reticulocytes miscounted as large RBCs E- Endocrine - hypothyroid D-Dietary
C-Chemotherapeutic Drugs E-Erythro Leukemia L- Liver Disease L- Lesch-Nyhan Syndrome S-Splenectomy
Macrocytic Tests
The peripheral blood changes include: -Anemia with decreased reticulocyte count, -
Increased MCV -Neutropenia with hypersegmented Neutrophils -Thrombocytopenia with large platelets.
LABS to order: B12, Serum Folate, RBC Folate if all normal, consider Metylmalonic Acid and
Homocyteine levels, TSH, and a Bone Marrow Bx.
Macrocytic Work-up
Serum B12
RBC/Serum Folate
B12 nromal/Folatenormal - Order
Metylmalonic Acid and Homocyteine
levels
Metylnalonic Acid Elevated in early B12 Deficiency
Consider Liver disease, hypothyroid, Drugs, Toxins – Refer
for BM Bx
B12 low /Folate low = B12 Deficiency or
both
Replace with oral, nasal or IM B12 and
Folate
B12 Cobalamin DeficiencyPhysical signs include edema, pallor,
jaundice, smooth tongue, dementia, decreased vibratory and position sensation,
Hypersegmented polysLow PlateletsLow serum B12 levelMetformin, Gastric bypass, H2 or PPI
as cause?Methylmalonic acid (B12) and
homocysteine levels elevatedPernicious anemia - anti- intrinsic
factor antibodies Schilling's test Rx - cobalamin 1000 mg I.M., oral,
or Nasal Spray
Case 10 Answer
A. Diabetic Neuropathy
B. Lead toxicity
C. Vitamin B12 deficiency
D. Lesch-Nyhan Syndrome
http://www.medscape.com/viewarticle/712908_2
http://www.aafp.org/afp/2012/0315/p612.html
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