Heme/Onc E1: Bolded Info: Anemia Part 2

What is megaloblastic anemia?

A type of macrocytic anemia caused by B12 & folate deficiency

What is the most common cause of megaloblastic anemia (in the US), especially in pregnancy?

Folate deficiency

What is the classic cause of megaloblastic anemia?

Pernicious anemia

What is the cause of pernicious anemia?

Lack of intrinsic factor (IF helps absorb B12)

What condition has an elevated MCV and the pathogenomic findings are macrocystosis & hypersegmented neutrophils?

Megaloblastic anemia

What vitamin helps with the formation of normal RBCs?

Vitamin B12

It can take years to deplete stores of B12.

A. True
B. False

A. True

What is the main clinical presentation of B12 deficiency?

Neuro-psychiatric (peripheral neuropathy, problems w/ balance, depression, dementia in severe cases)

High levels of methylmalonic acid are ONLY seen in what condition?

B12 deficiency

What will the level of homocysteine be in B12 & folate deficiency?

High

What is the clinical presentation of pernicious anemia?

Clinical presentation is exactly the same as other causes of B12 deficiency EXCEPT it will not respond to ORAL B12 supplementation d/t lack of intrinsic factor → tx w/ IM/IV B12

How does folate deficiency typically occur?

Due to inadequate intake

What condition is most often associated with alcoholism? Why?

Folate deficiency

EtOH interferes w/ intestinal absorption of folic acid & decreased hepatic storage

What condition is characterized by pancytopenia w/ macrocytic anemia?

Myelodysplastic syndrome

What is the treatment for myelodysplastic syndrome?

Allogeneic stem cell transplant is the ONLY curative option

What are hemoglobinopathies?

Defects in synthesis of the heme portion result in porphyias

What condition is characterized by a mutation of beta chain of the hemoglobin molecule?

Sickle cell disease

What is the pain management for sickle cell anemia? What is the first step?

Hydration (1st)

Oxygen

Aggressive analgesia

Transfusion

Identify/Correct precipitating event

What should be done when a patient with sickle cell disease presents with acute chest syndrome?

Emergency exchange transfusion

What is a long term management treatment for sickle cell disease?

Hydroxyurea → increases the production of Hgb F which CANNOT sickle

What is the only curative option for sickle cell disease?

Allogeneic stem cell transplant

What is the singular feature that typifies all forms of sideroblastic anemia?

Presence of ring sideroblasts in the bone marrow aspirate

What is the mainstay of treatment for those who don't respond to pyridoxine (B6) therapy in sideroblastic anemia?

Transfusion

What is a metabolic disorder caused by altered activities of one of the eight enzymes involved in heme biosynthesis?

Porphyria

Which porphyria is most commonly seen in adults?

Porphyria cutanea tarda

Which porphyria is most commonly seen in children?

Erythropoietic porphyria (EPP)

What is the treatment for porphyrias?

Protection from sunlight

What is GVHD and how is it prevented?

Complication of allogeneic bone marrow transplant where the graft rejects the host

Prevent w/ immunosuppression