96 - Hemolytic Anemias

Question 1

What are the main signs of HA (Hemolytic Anemia) (4)?

Answer 1

1. Jaundice
2. Discoloration of urine
3. Spleno/hepatic- megaly
4. Skeletal changes

Question 2

What do you find in HA lab workup?

Answer 2

1. Unconjugated bilirubin and AST increase
2. MCV + MCH increase
3. LDH increase
4. Haptoglobin reduce

Question 3

What is the definition of HA?

Answer 3

When the rate of RBC destruction exceed the capacity of the BM to produce more RBC

Question 4

What are the main clinical findings in HS (Hereditary Spherocytosis)?

Answer 4

1. Jaundice
2. Splenomegaly
3. Gallstone

Question 5

What is the CBC finding that suggests most strongly that the patient might have HS?

Answer 5

MCHC (Mean Corpuscular Hemoglobin Concentration)>34

Question 6

What is the treatment for HS?

Answer 6

1. Mild- no treatment

2. Moderate- postpone splenectomy until after puberty

Question 7

What does PKD (pyruvate Kinase Deficiency) treatment include?

Answer 7

1. Supportive
2. Folate
3. Iron chelation
4. Blood transfusion
5. Splenectomy

Question 8

What is the HA triad for diagnosis?

Answer 8

1. Normomacrocytic anemia
2. Reticulocytosis
3. Hyperbilirubinemia

Question 9

How can we differentiate between enzymatic and membranous disorders?

Answer 9

Enzymopathies should be considered when coombs negative HA

Question 10

What is the role of G6PD?

Answer 10

Redox metabolism of all aerobic cells- In RBC its the only source of NADPH

Question 11

What is the genetic location of G6PD?

Answer 11

X-linked

Question 12

When challenged by an oxidative agent what do the majority of people with G6PD may present with?

Answer 12

1. Neonatal jaundice (NNJ)

2. AHA (Acute HA)

Question 13

What is the result of inadequately managed NNJ+G6PD deficiency?

Answer 13

Kernicterus and permanent neurological damage

Question 14

What can cause AHA in people with G6PD deficiency? (3)

Answer 14

1. Fava beans
2. Infections
3. Drugs (antimalarials, sulpho, antibacterials, antipyretic)

Question 15

What is the prodrome of AHA in people with G6PD deficiency?

Answer 15

Malaise, weakness, abdominal/lumber pain.

After several hours-3 days jaundice and dark urine develop

Question 16

What do we see in the lab of AHA in people with G6PD deficiency? (5)

Answer 16

1. Hemoglobinemia
2. Hemoglobinuria
3. High LDH
4. Low/absent plasma haptoglobin
5. High unconjugated bilirubin

Question 17

What are the typical features of G6PD deficiency blood cells

Answer 17

1. Hemighosts (unevenly distributed hemoglobin
2. Bite cells
3. Heinz bodies

Question 18

What is the most serious threat from AHA in adults with G6PD deficiency?

Answer 18

Acute renal failureq

Question 19

Who usually gets affected by aHUS? what will we see?

Answer 19

1. Children

2. microangiopathic HA, thrombocytopenia, ARF

Question 20

What is the mortality rate of aHUS in the acute phase and in the case of progressing to ESRD?

Answer 20

1. 15%

2. 50%

Question 21

What is the treatment of aHUS?

Answer 21

1. Eculizumab (anti C5 complement inhibitor) indefinitely to prevent ERSD
2. Traditionally plasma exchange was given, but now less.

Question 22

What are the two situations in which mechanical destruction of RBC occur?

Answer 22

1. March hemoglobinuria (marathon runners)

2. Chronic and iatrogenic- Microangiopathic hemolytic anemia due to prosthetic heart valve

Question 23

What are the most frequent infectious causes of HA?

Answer 23

1. Malaria- in endemic areas

2. Shiga toxin-producing E.coli O157:H7- in the rest of the world

Question 24

How can open wounds/septic abortion lead to HA?

Answer 24

Clostridium perfringens sepsis-> toxin with lecithinase activity

Question 25

What is the mortality rate due to AIHA (Autoimmune HA) when treated?

Answer 25

5-10%

Question 26

What is clinical triad of AIHA?

Answer 26

1. Abrupt drop in hemoglobin level (up to 4 g/dl) 2. Jaundice 3. Splenomegaly

Question 27

How do you call the direct antiglobulin test?

Answer 27

Coombs test

Question 28

Which lab test is diagnostic for AIHA?

Answer 28

Coombs test. You can use to to determine if its C3 or Ig implicated.

Question 29

Which disease might have AIHA as its first manifestation?

Answer 29

SLE

Question 30

Where does the RBC destruction occur in AIHA?

Answer 30

Extravascular hemolysis (spleen, liver, BM)

Question 31

What is the treatment for severe acute AIHA?

Answer 31

RBC transfusion

Question 32

What is the treatment for non-life-threatening AIHA?

Answer 32

Prednisone (1 mg/kg per day) + rituximab (anti DC20) (100 mg wk * 4)

Question 33

How will you treat patients with relapsing AIHA?

Answer 33

Splenectomy

Question 34

What is CAD (Cold Agglutinin Disease)?

Answer 34

1. A form of AIHA which occur in areas exposed to cold temperature. 2. It is a chronic condition. 3. Usually IgM produced by expanded B lymphocyte clone 4. regarded as Waldenstorm macroglobulinemia

Question 35

How do you treat CAD?

Answer 35

1. Mild- avoiding cold temperature 2. Rituximab (60% of patients respond to this treatment) 3. Blood transfusion

Question 36

What proved to be ineffective in CAD treatment?

Answer 36

1. Splenectomy | 2. Prednisone

Question 37

What is PNH (Paroxysmal Nocturnal Hemoglobinuria) ?

Answer 37

Acquired chronic HA characterized by persistent intravascular hemolysis with occasional or frequent exacerbations.

Question 38

What is the PNH triad?

Answer 38

1. Hemolysis 2. Pancytopenia 3. Venous thrombosis (may lead to Budd-Chiari syndrome)

Question 39

Describe a typical complaint of a patient with PNH?

Answer 39

Blood like urine in the first pass of urine in the morning

Question 40

What kind of anemia do we usually see in PNH?

Answer 40

Normo/macrocytic with reticulocytosis

Question 41

What is the gold standard for diagnosing PNH?

Answer 41

Flow cytometry for RBC and granulocytes- presenting CD59 and CD55 negative

Question 42

How do you treat PNH?

Answer 42

Eculizumab + folic acid or Blood transfusion