Medical Care
Treatment is rarely indicated for patients with mild variants of hereditary elliptocytosis. In severe cases, occasional erythrocyte transfusions may be required.
Daily folic acid supplementation is recommended for patients with hemolysis.
Observe patients with sporadic hemolysis for signs of decompensation during serious illnesses or when known to have conditions that exacerbate hemolysis.
Pay special attention to viral illnesses such as parvovirus B-19 infection, which can cause transient RBC aplasia and sudden precipitous decreases in hemoglobin levels. Reticulocytopenia will be present.
Care for neonates as for any patient with hemolytic anemia. The diagnosis is rarely made in the neonatal period.
Phototherapy and exchange transfusion are warranted in cases of severe anemia and hyperbilirubinemia.
Anticipate symptomatic hemolysis in previously asymptomatic patients who undergo prosthetic heart valve replacement. [19]
Surgical Care
The spleen removes abnormal RBCs from circulation. Splenectomy reduces the severity of anemia by increasing the circulatory life span of fragmented RBCs.
Splenectomy has been helpful in severe cases of hereditary elliptocytosis and hereditary pyropoikilocytosis. The indications are the same as those for hereditary spherocytosis. Consider splenectomy in patients who have moderate-to-severe anemia with significant symptoms (eg, growth failure, skeletal changes, leg ulcers) and in older patients with vascular compromise to vital organs. Subtotal splenectomy is only moderately and transiently effective and does not eliminate the need for total splenectomy in patients with severe symptoms.
Splenectomy is rarely necessary in the first 2 years of life. If possible, avoid it in patients younger than 5 years because of the risk of overwhelming bacterial septicemia. In most neonates with severe hereditary elliptocytosis or hereditary pyropoikilocytosis, the condition evolves to a milder form. For this reason, and because of the substantial risk of infection, splenectomy should be postponed in children younger than 5 years.
After splenectomy, most patients with hereditary elliptocytosis or hereditary pyropoikilocytosis have increased hemoglobin levels, decreased reticulocyte counts, and improved signs and symptoms. Hemolysis is not, however, eliminated.
Administer pneumococcal vaccines prior to the procedure; both conjugated and polysaccharide vaccines may be indicated depending on the patient's age. PCV13 should be administered to those who have not received it. Ensure that the Haemophilus influenzae type B vaccine series has also been administered. Conjugated meningococcal vaccine (MCV4) should also be given if the child is aged 2 years or older.
Patients who undergo splenectomy should be placed on antibiotic prophylaxis to prevent postoperative infections caused by encapsulated bacteria. The duration of such therapy remains controversial but should last until at least age 5 years.
Consultations
Because these disorders are rare, consult a pediatric hematologist for the evaluation and management of hematologic manifestations.
Consult a surgeon early in the course of severe disease for counseling regarding cholecystectomy or splenectomy.
Diet
No dietary restrictions are indicated for hereditary elliptocytosis or hereditary pyropoikilocytosis.
Identify and treat and concomitant conditions such as iron-deficiency or folate deficiency.
If the patient with hereditary elliptocytosis/hereditary pyropoikilocytosis also has glucose-6-phosphatase deficiency, appropriate dietary restrictions should be implemented.
Activity
No restrictions on activity are indicated, unless substantial splenomegaly is present. A relatively small risk of splenic rupture is associated with contact sports in patients with splenomegaly. However, this is not an absolute contraindication to participation in athletics. Some patients may be offered a spleen guard.
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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.
