Internal Medicine

0521779407-09 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:13

698 Hereditary Elliptocytosis (HE) Hereditary Spherocytosis

General Measures

■provide folate supplementation

■counsel/diagnose other family members

specific therapy

■indications and complications of splenectomy similar to hereditary

spherocytosis (above)

■splenectomy is almost always curative

follow-up

■monitor for hematologic decompensation during acute illnesses

■interval ultrasounds for cholelithiasis

complications and prognosis

■HE: Complications are uncommon and prognosis is good

■if hemolysis, cholelithiasis possible

■megaloblastic anemia due to folate deficiency

■hemolytic, aplastic, and megaloblastic crises similar to spherocytosis

Hereditary Spherocytosis..............................

PATRICK G. GALLAGHER, MD

history & physical

History

■history of anemia, jaundice, gallstones, splenectomy

■family history of anemia, jaundice, gallstones, splenectomy

■∼two thirds dominant inheritance,∼one third recessive inheritance

or de novo mutation

Signs & Symptoms

■anemia, jaundice, pallor, and splenomegaly

■clinically heterogeneous

■typical patient relatively asymptomatic due to marrow compensa-

tion

■often identified when complications related to anemia or chronic

hemolysis occur or when studied for unrelated disorder

■hemolysis and anemia exaggerated in infancy

tests

Laboratory

■peripheral blood smear shows spherocytes lacking central pallor