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Pediatric Hereditary Elliptocytosis and Related Disorders Treatment & Management

  • Author: Trisha Simone Tavares, MD, FAAP; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
 
Updated: Oct 16, 2013
 

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.[14]

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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.

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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.

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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.

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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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Contributor Information and Disclosures
Author

Trisha Simone Tavares, MD, FAAP Attending Physician, Department of Pediatrics, Section of Hematology/Oncology, Cardon Children's Medical Center

Trisha Simone Tavares, MD, FAAP is a member of the following medical societies: Children's Oncology Group

Disclosure: Nothing to disclose.

Coauthor(s)

Richard H Sills, MD Professor of Pediatrics, Upstate Medical University

Richard H Sills, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Gary D Crouch, MD Associate Professor, Program Director of Pediatric Hematology-Oncology Fellowship, Department of Pediatrics, Uniformed Services University of the Health Sciences

Gary D Crouch, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Sharada A Sarnaik, MBBS Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Associate Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, Children's Oncology Group, American Academy of Pediatrics, Midwest Society for Pediatric Research

Disclosure: Nothing to disclose.

References
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  2. Knight J, Czuchlewski DR. Acquired elliptocytosis of myelodysplastic syndrome. Blood. 2013 Jan 24. 121(4):572. [Medline].

  3. Barcellini W, Bianchi P, Fermo E, et al. Hereditary red cell membrane defects: diagnostic and clinical aspects. Blood Transfus. 2011 Jul. 9(3):274-7. [Medline]. [Full Text].

  4. Garnett C, Bain BJ. South-East Asian ovalocytosis. Am J Hematol. 2013 Apr. 88(4):328. [Medline].

  5. Soderquist C, Bagg A. Hereditary elliptocytosis. Blood. 2013 Apr 18. 121(16):3066. [Medline].

  6. Da Costa L, Galimand J, Fenneteau O, Mohandas N. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Blood Rev. 2013 May 9. [Medline].

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  8. Rosanas-Urgell A, Lin E, Manning L, Rarau P, Laman M, Senn N. Reduced risk of Plasmodium vivax malaria in Papua New Guinean children with Southeast Asian ovalocytosis in two cohorts and a case-control study. PLoS Med. 2012. 9(9):e1001305. [Medline].

  9. Heeney M, Dover GJ. Orkin SH, ed. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, Pa: Saunders Elsevier; 2009. Chapter 19.

  10. Luzzatoo L, Poggi V. Glucose-6-Phosphate Dehydrogenase Deficiency. Orkin SH, ed. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, Pa: Saunders Elsevier; 2009. Chapter 17.

  11. Ipsaro JJ, Harper SL, Messick TE, Marmorstein R, Mondragon A, Speicher DW. Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex. Blood. 2010 Jun 10. 115(23):4843-52. [Medline]. [Full Text].

  12. Wilder JA, Stone JA, Preston EG, Finn LE, Ratcliffe HL, Sudoyo H. Molecular population genetics of SLC4A1 and Southeast Asian ovalocytosis. J Hum Genet. 2009 Mar. 54(3):182-7. [Medline].

  13. King MJ, Bruce LJ, Dhermy D. Hemolytic Anemias Associated with Disorders of Erythrocyte Membrane and Cytoskeleton Proteins. Kottke-Marchant K, Davis BH, eds. Laboratory Hematology Practice. Oxford, UK: Wiley-Blackwell; 2012.

  14. Caprari P, Tarzia A, Mojoli G, Cianciulli P, Mannella E, Martorana MC. Hereditary spherocytosis and elliptocytosis associated with prosthetic heart valve replacement: rheological study of erythrocyte modifications. Int J Hematol. 2009 Apr. 89(3):285-93. [Medline].

 
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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.
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.
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.
 
 
 
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