AWESOME HEME Flashcards
What is the most sensitive assay for iron deficiency anemia?
Ratio of transferrin receptor to log ferritin (transferrin receptor index); >2.0 is iron deficiency and <1.0 is anemia of inflammation
Verotoxin can cause a TMA and is produced by what organism?
E. coli 0157:H7 i.e. basically HUS
What is a normal serum ferritin? Levels greater than ______ essentially rule out iron deficiency?
20; 100
What should you think of in a patient with numbness s/p colonoscopy with numbness on the L side of the body that resolves in 15 min
Could be air embolus that traveled through the colon venous circulation and crossed a PFO
If a patient has hgb of 10, MCV of 85, and t sat of 12% with ferritin of 120 what will a bone marrow biopsy show?
This is anemia of inflammation so there will be lots of iron in the macrophages but lower amounts of iron in the RBC precursors
In which type of AIHA are steroids useful?
Warm AIHA (IgG +/- C3)- removed by spleen whereas cold removed more by liver
What is the only medication shown to decrease mortality in RA?
MTX
What is the process from ALA to heme?
ALA–>Porphobilinogen–>HMB–>uroporphyrogen–>coproporphryogen–>protoporphyrin–> heme; Acute intermittent porphyria d/t decreased PBG deaminase with elevation of PBG (i.e. Dx with spot urine porphobilinogen) and porphyria cutanea tarda due to uroporphyrogen decarboxylase wiht elevated levels of uroporphyrogen
What is present in hemoglobin A?
Normal adult hgb- 2 alpha chains and 2 beta chains
The primary tx for post-transfusion purpura is _______
IVIG (and for CLL, ITP, and GBS)
What should be thought of in anemias with MCV >110?
Likelly B12 or Folate deficiency; of note when there are ridiculous MCVs like 140 should think of cold agglutinin dz with agglutination being counted as the MCV. There are other causes of macrocytosis but MCV >110 mostly just folate and B12 def (i.e. aplastic anemia and MDS likely not that high)
What is a good way to differentiate B12 deficiency and vitamin B6 deficiency anemia?
High MCV in B12 def, also the homocysteine will be high in both so ignore it
An african american man with SC disease presents with right hip pain. No hx of recent trauma and XR of hip shows diffuse articular sclerosis and patches of decalcification what is the Dx?
AVN of the femoral head; this MC occurs in SC dz (also may have splenomegaly and retinal infarcts)
What disorder can cause a smooth and bald tongue with cheilosis and posterior column disease?
B12 def; this is subacute combined degeneration of the cord (similar stuff seen in tertiary syphilis with tabes dorsalis)
75 F with forgetfulness and positive Romberg sign. B12 is 310, hgb is 13 with MCV of 103, wtd next?
Check MMA level (borderline low B12 –> check MMA); folate will improve anemia but will not correct neuropsychiatric sx
Which heparinoid can be used for patients with hyperkalemia?
Fondaparinux
What is the enzyme deficiency in porphyria cutanea tarda?
Uroporphyrogen decarboxylase which leads to elevated levels of uroporphyrogen; of note anything messing with hepatocyte metabolism can cause this deficiency hence relationship to HCV
What is present in hemoglobin F?
2 alpha chains and 2 gamma chains
A pt with unstable angina is started on IV nitrates or post-EGD or post-bronchoscopy turns cyanotic and SOB ABG shows PaO2 of 96 with pulse ox of 85% DX?
Methemoglobinemia (benzocaine spray or nitrates can cause this (ferrous–>ferric)); also the mismatch in PaO2 to pulse ox = methemoglobinemia
A hemoglobin electrophoresis with mostly HbA but also with HbS and maybe a bit of HbA2 and HbF is suggestive of this ________
Sickle cell trait as true SS disease would not have any HbA (recall, trait can have splenic sequestration crisis and SS disease cannot)
Which type of AIHA will occur in CLL or a lymphoma?
Anti-IgM with IgM and C3+ and destruction largely in liver
A patient with sickle cell trait with LUQ pain and an enlarging spleen and dropping hb with BP 100/80 supine and 80 when standing? What is the Dx? What is the next step and prognosis?
Splenic Sequestration crisis (recall that this can only occur in an adult with trait as SS will have autoinfarcted the spleen in childhood); fluids the pRBCs for volume expansion; not Tx with surgery as most resolve on their own
Which countries have more alpha thalassemia? Which have more beta?
Alpha- Laos, Cambodia, Vietnam (SE Asia); Beta- Italy, Greece etc
A patient with membranous nephropathy with PE and negative duplex US of the LE still warrants investigation with ________
Renal vein duplex as the renal vein thrombosis can still cause PE
Which breast cancer drugs can predispose to osteoporosis?
Aromatase Inhibitors
If a patient is an adult with sickle cells (drepanocytes) seen on peripheral smear and has a splenic sequestration crisis then what is the underlying diagnosis?
Sickle Cell Trait as a true SS dz would have autosplenectomized by then already
Regarding folic acid def, B12 def, and B6/pyridoxine def, what will be the results of homocysteine and MMA levels?
Folic acid and B6 will have only elevations of homocysteine; B12 will have elevation of both homocysteine and MM
What is the etiology of acute intermittent porphyria?
Decreased activity of porphobilinogen deaminase with elevated levels of porphobilinogen PBG causing neuropsychiatric sx
Which has elevated PT and ammonia–HELLP or Acute Fatty Liver of Pregnancy?
Acute Fatty Liver of Pregnancy
What effect does polycythemia vera have on the HbA1C?
Falsely low because there are so many RBCs relative to the amount usually in the assay
What is the leading cause of mortality in sickle cell patients?
Acute Chest Syndrome (IV abx, prbc if severe anemia, and O2 if hypoxic) if hypoxia persists despite O2 and pRBCs then exchange xfusion
What is likely to be the best Tx of Burr Cell anemia?
Erythropoietin as the etiology is due to decreased EPO production
Blister cells are seen in what disease?
G6PD def
When there are globinopathies what can happen if alpha chains arent being produced? What if beta chains arent being produced?
When alpha chains are not produced, nothing replaces them. When beta chains arent being produced then delta chains can replace them and make hemoglobin A2 (recall Hgb A is normal) or gamma chains making fetal hgb (HbF)
What is the general tx of aplastic anemia for patients under 50 vs. older?
Allo-SCT vs. ATG + Cyclosporine and (possible role for eltrombopag)
Aside from severe acute chest syndrome, what are some other indications for exchange transfusion in sickle cell disease?
CVA and refractory priapism
An elderly man presents with nausea, abdominal pain, and diarrhea. He is confuseed with gait abnormality and decreased vibration sensation with a hgb of 9 and MCV of 78 wtd?
Check urine screen for heavy metals; he likely has sideroblastic anemia given the low MCV; picking B12 level is therefore the wrong choice. Sideroblastic anemia occurs in INH without B6 (INH can also cause factor XIII def), in alcoholics, and battery workers.
25 F with normal labor and 7 days post-partum presents with fatigue hb of 8, plt 20k, retic 7%, nl PT/PTT and elevated sCr and LFTs; schistocytes noted; Dx?
HELLP syndrome (if post-partum then control BP) if 3rd trimester <32 weeks then give betamethasone and if >32 weeks then do an early delivery
A hemoglobin electrophoresis with lack of HbA but with a decent amount of A2 and mostly HbS is likely what?
Sickle-Thal (NOT trait); the reason being that A is gone and so there is mostly HbS but then there is still a lot of HbA2 suggesting the presence of the thalassemia
Regarding pathology of the thyroid. CPK elevation is mostly seen in _____ and onycholysis is often seen in _____
Hypothyroidism (follow TSH); Hyperthyroidism (follow FT4)
A patient with anemia and electrophoresis showing absence of HbA but with presence of HbA2 and HbF suggests this ______
Beta thalassemia major because there is NO HbA; in beta thal minor/trait there is still some HbA
A patient with sickle cell disease and epilepsy on phenytoin presents with severe anemia and hgb drop from 11 to 9 with MCV of 110 and a retic count of 0.7% and LDH of 750. Dx?
Phenytoin induced folic acid deficiency; recall that sicklers should be on empiric folic acid therapy anyway but the macrocytosis and loss of reticulocytosis points towards ineffective hematopoiesis
Which type of AIHA will PCN, cephalosporins and methyldopa cause?
Warm AIHA (IgG +/- C3)- removed by spleen whereas cold removed more by liver
A patient with hgb of 13 and MCV of 70 presents and has hgb electrophoresis showing HbA of 75%, hgb S of 25% and HbF of 0.3% Dx?
Sickle Cell trait and alpha thalasemia (Sickle cell alone will not account for MCV of 70 but given that HbA2 is not elevated it cannot be B thalassemia so it must be alpha thalassemia; the formal Dx is made with PCR analysis)
Given that alpha thalassemia trait can have a normal hemoglobin electrophoresis (bc delta chains only made when replacing the beta chains) and so therefore there is no Hgb A2, what test can confirm it?
DNA PCR Analysis
In whom is an S3 considered normal?
Pregnant women and kids (but again, don?t be fooled with pregnancy because can get post-partum CMO)
What type of precautions are used for meningococcus?
Droplet precautions (recall you need to vaccinate prior to giving eculizumab as it causes a terminal complement deficiency)
T/F HELLP does not occur post-partum
False it occurs in the 3rd trimester and post-partum
Which type of workup should be done for patients <40 or >50 who are found to be iron deficient?
If young would consider EGD, if >50 definitely colonoscopy but also there is clinical judgement this is not hard and fast
Which type of AIHA will SLE cause?
Warm antibody AIHA (Anti-IgG +/- C3)- hemolysis in spleen; microspherocytes
How would you differentiate thiamine deficiency vs. refeeding syndrome as the etiology of ophthalmoplegia in a malnourished pt?
Thiamine deficiency would likely present earlier; refeeding syndrome is something that may present a few days after refeeding and utilization of all of the phosphate
What does the term polychromasia refer to?
Blue looking cells under microscope often synonymous with increased reticulocytes
What is present in hemoglobin A2?
Two alpha chains and two delta chains (i.e. the delta replaces the beta)
Which anemia often has an elevated RBC count (i.e. 7 million)?
Thalassemia trait (lots of RBC but hgb is low bc defective globin synthesis)
What are some potential causes of macrocytosis with MCV <110?
Can still be B12/folate def (if it is >110, much more likely only these two) but also MDS, Aplastic anemia, hypothyroidism (can be normocytic), liver dz, EtOH
At what EPO level would the use of an ESA be reasonable for a patient with MDS who has anemia?
If the EPO is less than 500
The 5-Eosin-Maleiamide test is used to diagnose this disease _______
Hereditary Spherocytosis (old test was osmotic fragility test)
If you cant do PLEX for a patient with TTP what blood product can you give to temporize?
FFP as it contains ADAMTS13; note that with HUS the tx is largely supportive
What are the T-sat goals and ferritin level goals with phlebotomy for hereditary hemochromatosis?
T sat <50% and ferritin of 20-30
In a patient with a platelet count of 50k and PNA what test will help to establish a Dx of TTP?
Peripheral Smear
From a pathopys standpoint, how is development of sickle cell dz different from beta thalassemia?
Beta thalassemi is due to lack of production of beta chains whereas sickle cell Dz is due to point mutations in the beta chain
In a patient who is started on oral ferrous sulfate, what is the first parameter that will increase and show response? What time frame?
Reticulocyte count and it goes up in 5 days; It is reticulocyte count first NOT the hgb, platelets (down) or RBCs
School teacher or daycare worker with arthralgias and hgb of 8 and a reticulocyte count of 0.2%. Dx? Tx?
Parvovirus B19 (will not have a rash, only in kids) Dx is with IgM abs or PCR assay; Tx with IVIG
Pt with folic acid deficiency anemia gets started on tx and platelets rise from 150k to 750k a few weeks later, wtd?
Continue the folate, platelets may rise acutely with folic acid therapy
Which diabetic drug can cause B12 def?
Metformin
A patient with lower levels of HbA than expected but with presence of A2 and F likely has what?
Beta thalassemia trait (because there is still some HbA present); recall chains are only really REPLACED in beta thalassemias
What needs to be checked prior to starting Rituximab?
PPD or IGRA, HBV serologies and give pneumococcal vaccine bc will be immunosuppressed once starting on rituximab
Elderly man who works at a battery factory or old building or is chronic alcoholic presents with anemia, gout, hgb of 9g and MCV of 10 what is the likely Dx?
Lead toxicity w/ sideroblastic anemia and saturnine gout (recall losartan can be used for HTN with gout)
Hemoglobin A is normal what are the chains present in hemoglobin A?
2 alpha chains and 2 beta chains
What is the most common cause of osteomyelitis in sickle cell dz?
Salmonella > staph 2:1; in any other dz process it is due to staph (due to sickling in vessels in gut)
What is the best way to detect iron deficiency vs. increased plasma volume in a pregnant patient with anemia?
The RDW. If the RDW is normal in pregnancy then it is likely related to increased plasma volume; if the RDW is high then the patient has anisocytosis = iron deficiency
What is deficient in acute intermittent porphyria and how do you diagnose it?
Porphobilinogen deaminase–leads to elevated levels of porphobilinogen so Dx = spot urine porphobilinogen
Name two medications that have been shown to decrease the absorption of vitamin B12?
Metformin, PPI (of note PPI also with AKI, CKD, C. diff, and vitamin D def)
When hemolysis occurs secondary to G6PD deficiency how do you actually go about diagnosing it?
Need to check G6PD in 2-3 months as the younger cells will have normal levels of G6PD (don?t forget that rasburicase can cause)
Which type of sickling disorder is associated with retinal infarcts?
Sickle Cell SC disease (the retina SEES so it is C)
What type of anemia has cigar shaped cells?
Iron deficiency anemia
What antihypertensive is helpful in gout and in decreasing size of aortic root dilation in Marfan?
Losartan
What is the best screening test for hereditary hemochromatosis? Dx test? What test would tell you the degree of iron overload?
Transferrin Saturation (usually >45%), HFE gene mutation (of note even if homozygous can have incomplete penetrance); quantification of iron overload with liver biopsy
Prior to starting a person on eculizumab what primary care concern needs to be addressed?
Need to vaccinate for meningitis bc of terminal compliment deficiency (C5-9); recall that because in PNH there is intravascular hemolysis and hemoglobinuria patients can become iron deficient
What hb level would you transfuse a sickle patient undergoing major surgery under general (not spinal or local) anesthesia?
10
What are some medication therapies to prevent future episodes of painful vasocclusive crises in Sickle Cell Dz?
Hydroxyurea is the main one (increases production of HbF), L-glutamine and Crizanlizumab (P-selectin Inhibitor)
