Hereditary spherocytosis: Difference between revisions

 
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==Clinical Features==
==Clinical Features==
*Classic triad: Anemia, Jaundice, Splenomegaly
*Classic triad: [[anemia]], [[jaundice]], splenomegaly


===Mild===
===Mild===
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===Severe===
===Severe===
*Marked hemolysis, anemia, hyperbili, splenomegaly
*Marked [[hemolytic anemia|hemolysis]], [[anemia]], [[hyperbilirubinemia]], splenomegaly
*Require regular RBC transfusions
*Require regular RBC transfusions
*Dx’d in infancy
*Dx’d in infancy


==Differential Diagnosis==
==Differential Diagnosis==
*[[DIC]]
{{Hemolytic anemia DDX}}
*[[TTP]]
*[[HUS]]
*[[Microangiopathic Hemolytic Anemia (MAHA)]]
*[[HELLP]]
*[[HIT]]
*[[Hereditary Spherocytosis (HS)]]
*[[Paroxysmal nocturnal hemoglobinuria]]


==Diagnosis==
==Evaluation==
*Low Hb, elevated retic count, spherocytes on peripheral smear
*Low hemoglobin, elevated retic count, spherocytes on peripheral smear
*Elevated MCHC (RBC membrane leaky causing RBC dehydration)
*Elevated MCHC (RBC membrane leaky causing RBC dehydration)
*Osmotic fragility test, AGLT, EMA binding test, cryohemolysis
*Osmotic fragility test, AGLT, EMA binding test, cryohemolysis
**One study showed AGLT + EMA binding test identified all HS pts
**One study showed AGLT + EMA binding test identified all HS patients
*Negative Coombs test
*Negative Coombs test


==Treatment==
==Management==
*Folic acid
*[[Folic acid]]
*RBC transfusion
*[[pRBC]] transfusion
*EPO
*EPO
*Splenectomy
*[[Splenectomy]]
**As late as possible, preferably >6 yo
**As late as possible, preferably >6 yo
**Post-op need encapsulated bacteria prophy: Strep Pneumo, H Influenza, Neiserria Meningitidis
**Post-op need encapsulated bacteria prophylaxis: Strep Pneumo, H Influenza, Neiserria Meningitidis
**Possible higher risk of arterial/venous thrombosis in HS after splenectomy
**Possible higher risk of arterial/venous thrombosis in HS after splenectomy
*Hematopoietic cell transplant (most agree risks outweigh benefits)
*Hematopoietic cell transplant (most agree risks outweigh benefits)


==Complications==
==Complications==
*Cholelithiasis secondary to intravascular hemolysis causing development of bilirubin gallstones
*[[Cholelithiasis]] secondary to intravascular hemolysis causing development of bilirubin gallstones
*Pseudohyperkalemia: K+ leaks out of RBCs after blood draw
*Pseudohyperkalemia: K+ leaks out of RBCs after blood draw



Latest revision as of 14:58, 1 September 2019

Background

  • Hereditary hemolytic anemia due to defect in RBC cell membrane (mainly spectrin, ankyrin)
    • 75% Autosomal Dominant, 25% Autosomal Recessive

Pathophysiology

  • Deficient/Nonfunctional RBC cell membrane proteins that connect the cell membrane skeleton to the lipid bilayer

Clinical Features

Mild

  • No anemia, normal retic count, little or no jaundice/splenomegaly
  • No RBC transfusions
  • Dx’d later in life

Moderate

  • Anemic, elevated retic, elevated bili, maybe splenomegaly
  • May require RBC transfusions
  • Dx’d in infancy or early childhood

Severe

Differential Diagnosis

Microangiopathic Hemolytic Anemia (MAHA)

Evaluation

  • Low hemoglobin, elevated retic count, spherocytes on peripheral smear
  • Elevated MCHC (RBC membrane leaky causing RBC dehydration)
  • Osmotic fragility test, AGLT, EMA binding test, cryohemolysis
    • One study showed AGLT + EMA binding test identified all HS patients
  • Negative Coombs test

Management

  • Folic acid
  • pRBC transfusion
  • EPO
  • Splenectomy
    • As late as possible, preferably >6 yo
    • Post-op need encapsulated bacteria prophylaxis: Strep Pneumo, H Influenza, Neiserria Meningitidis
    • Possible higher risk of arterial/venous thrombosis in HS after splenectomy
  • Hematopoietic cell transplant (most agree risks outweigh benefits)

Complications

  • Cholelithiasis secondary to intravascular hemolysis causing development of bilirubin gallstones
  • Pseudohyperkalemia: K+ leaks out of RBCs after blood draw

See Also