Further Outpatient Care
The frequency of outpatient visits depends on the clinical picture and the severity of hemolytic disease. In general, annual physical examinations to assess growth and spleen size are appropriate. At each visit, a CBC count and reticulocyte count should be obtained. Patients should be seen as needed to evaluate for signs of increased hemolysis such as pallor or jaundice. Severely symptomatic children should be monitored for failure to thrive. Patients who have undergone splenectomy should be evaluated when febrile.
Further Inpatient Care
Inpatient care is rarely required but is indicated for severe complications.
Inpatient & Outpatient Medications
Patients who have hemolytic anemia should take folic acid daily to replenish their folate stores and to support RBC production.
Deterrence/Prevention
Offer genetic counseling to all patients with hereditary elliptocytosis or its variants. Inform patients that asymptomatic relatives including parents and siblings may be affected.
Complications
Hemolytic anemia is the primary complication of hereditary elliptocytosis and hereditary pyropoikilocytosis. The severity widely varies, but some patients require RBC transfusions.
Transient pure RBC aplasia with acute anemia has been reported in patients with sporadic hemolysis. As in other hemolytic diseases, parvovirus is the most common cause.
Patients requiring blood transfusions are at risk for transfusion reactions and the transmission of viral or other infections.
Patients who have significant hemolytic disease are also at risk for cholelithiasis secondary to chronic hemolysis. If symptomatic, patients should undergo ultrasonographic evaluations to assess the gallbladder.
Albeit rare, splenic rupture is possible if substantial splenomegaly is present.
Prognosis
The prognosis for patients with hereditary elliptocytosis and related disorders is good; patients should have a normal life expectancy.
Patient Education
Educate patients and their parents about the inheritance pattern of the disease. They should understand that asymptomatic family members may have affected offspring.
Patients with hereditary elliptocytosis should be counseled that their offspring could have severe hemolytic anemia in the newborn period.
Educate patients and their parents about the signs and symptoms of hemolysis and anemia with instructions on when to access medical care. Patients and/or parents should become skilled in palpation of the size of the spleen.
Educate patients requiring splenectomy about the risks of infection. Educate patients about the need for preoperative vaccinations. Educate patients about the appropriate timing of immunization in relation to splenectomy.
Educate patients about when to seek medical attention for fever if they have undergone splenectomy.
Patients should know the signs and symptoms that indicate the presence of gallstones, and they should understand that they are at increased risk if significant hemolysis is present.
If splenomegaly is substantial, patients should be counseled concerning the risk of abdominal trauma and potential splenic rupture or subcapsular hematoma.
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Cigar-shaped erythrocytes seen in hereditary elliptocytosis. Courtesy of Jean A. Shafer, BS, MA, Assistant Professor of Hematology and Pathology at the University of Rochester School of Medicine and Dentistry.
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Schematic diagram of the components of the RBC membrane. Hereditary elliptocytosis can result from defects of alpha or beta spectrin or from a defective spectrin-actin-protein 4.1R junctional complex.
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Bizarre RBC morphology seen in hereditary pyropoikilocytosis. Courtesy of Jean A. Shafer, BS, MA, Assistant Professor of Hematology and Pathology at the University of Rochester School of Medicine and Dentistry.
