Anemia Enigmas Case Reviews - -...

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

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


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

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





– GI, MensesDiet


Inflammatory Block


Chelation therapy

No, Abnormal HbELP?




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/

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

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





– GI, MensesDiet


Inflammatory Block


Chelation therapy

No, Abnormal HbELP?




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

https://www.youtube.com/watch?v=-rwcIRfHcAE


CLL


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

http://emedicine.medscape.com/article/199313-overview

https://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/

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

http://emedicine.medscape.com/article/201066-treatment


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





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