Internal Medicine

0521779407-09 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:12

Hereditary Elliptocytosis (HE) 697

■family history of anemia, jaundice, gallstones, splenectomy

■HE: dominant inheritance; Hemolytic HE and HPP: recessive inher-

itance

■common in people of African and Mediterranean ancestry

Signs & Symptoms

■most HE patients are asymptomatic

■most hemolytic HE and HPP patients have well-compensated ane-

mia

■hemolysis and anemia are exaggerated in infancy

■diagnosed incidentally during testing for unrelated conditions

■splenomegaly, jaundice, pallor in hemolytic HE and HPP

tests

Laboratory

■HE: Peripheral blood smear with normocytic, normochromic ellip-

tocytes, few to 100%

■HPP: elliptocytes, bizarre-shaped cells with fragmentation or bud-

ding, poikilocytes, pyknocytes, microspherocytes

■elliptocytes rare on blood smear before 6 months of age

■anemia - mild or none in HE, mild to moderate in hemolytic HE and

HPP

■decreased MCV (50-70 fl) in HPP

■markers of hemolysis - increased reticulocyte count, serum bilirubin,

urinary urobilinogen, lactate dehydrogenase and decreased hap-

toglobin if significant hemolysis

■negative antiglobulin (Coombs’) test

■increased incubated osmotic fragility in HPP (not HE)

Imaging

■splenomegaly on abdominal ultrasound or radionuclide scanning

■cholelithiasis on abdominal ultrasound

differential diagnosis

■elliptocytes seen in megaloblastic anemias, hypochromic micro-

cytic anemias (including iron deficiency anemia and thalassemia),

myelodysplastic syndromes, and myelodysplasia

management

What to Do First

■assess degree of anemia, hemolysis, and potential complications

■therapy rarely needed in HE

■RBC transfusion if symptomatic anemia