Pediatric Asplenia Clinical Presentation

  • Author: Joseph C Turbyville, MD; Chief Editor: Harumi Jyonouchi, MD   more...
 
Updated: Apr 3, 2012
 

History

All patients with congenital or acquired asplenia or splenic dysfunction are at significant risk of fulminant bacteremia, especially from encapsulated bacteria. S pneumoniae is the most common pathogen implicated in bacteremia in these patients. Other encapsulated organisms include H influenzae type b, N meningitidis, E coli, Staphylococcus aureus, and other streptococci. Gram-negative bacilli including Salmonella species, Klebsiella species, and Pseudomonas aeruginosa are less common causes of bacteremia in patients with asplenia. These patients are also at risk for malaria and babesiosis.

  • Worldwide, most patients with asplenia or hyposplenia have an underlying hemoglobinopathy such as sickle cell disease.
    • Isolated asplenia and polysplenia are commonly associated with significant abnormalities involving other organ systems.
    • An awareness of these associations and syndromes may help in screening the patient for splenic dysfunction.
  • The most important clinical indication for the evaluation of splenic function is the presence of complex congenital heart disease. Patients should be evaluated for splenic dysfunction if any of the following are present:
    • Recurrent infection or sepsis, especially with encapsulated organisms
    • Family history of asplenia or polysplenia
    • Cyanotic congenital heart disease or complex cardiac malformations
    • Evidence of visceral heterotaxy or other associated malformations
    • Bilateral trilobed or bilobed lungs on chest radiographs
  • In contrast, the presentation of patients with isolated congenital absence or hypoplasia of the spleen may be less dramatic.
    • Children with these conditions may present to the primary caretaker with fever or overwhelming sepsis, or they may even be moribund.
    • Associated cardiovascular, pulmonary, GI, or genitourinary abnormalities may not be present to alert the physician to their underlying immunocompromised state.
  • Features such as thrombocytosis, HJ bodies in red cells, and recurrent episodes of invasive infections with encapsulated organisms may be helpful in identifying individuals with isolated absence or hypoplasia of the spleen. However, the absence of these features does not exclude splenic malfunction, although it may make the diagnosis more difficult.
Next

Physical

  • The spleen is not usually palpable during the physical examination, except in individuals with thin abdominal musculature.
  • Patients with sickle cell disease, particularly children, may have enlarged nonfunctional spleens (functional asplenia).
  • In visceral heterotaxy, a right-sided liver may be mistaken for splenic enlargement.
  • The physical findings depend on the associated anomalies.
Previous
Next

Causes

  • Asplenia and polysplenia may be sporadic or familial.
  • Because congenital asplenia has been documented in multiple members of the same family and because it is a component of several well-defined syndromes, genetic factors may play an important role in its pathogenesis. However, no specific genetic defect has been identified.
  • Both asplenia and polysplenia have been described in the same family; this finding suggests that these defects may define a spectrum of related conditions.
  • Surgical splenectomy may occur after significant splenic trauma or other clinical disorders, such as idiopathic (autoimmune) thrombocytopenic purpura.
Previous
Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Joseph C Turbyville, MD  Chief, Department of Allergy and Immunology, Ireland Army Community Hospital, Fort Knox, KY

Joseph C Turbyville, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, and American College of Allergy, Asthma and Immunology

Disclosure: Nothing to disclose.

Coauthor(s)

Cecilia P Mikita, MD, MPH  Associate Program Director, Allergy-Immunology Fellowship, Associate Professor of Pediatrics and Medicine, Uniformed Services University of the Health Sciences; Staff Allergist/Immunologist, Walter Reed National Military Medical Center

Cecilia P Mikita, MD, MPH is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American College of Allergy, Asthma and Immunology, and Clinical Immunology Society

Disclosure: Nothing to disclose.

Mudra Kumar, MD, MBBS, MRCP  Associate Professor, Department of Pediatrics, University of South Florida College of Medicine

Mudra Kumar, MD, MBBS, MRCP is a member of the following medical societies: American Academy of Pediatrics and American Society of Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

Ann O'Neill Shigeoka, MD †  Former Clinical Associate Professor, Department of Pediatrics, Division of Immunology-Rheumatology, University of Utah School of Medicine

Ann O'Neill Shigeoka, MD † is a member of the following medical societies: American Federation for Medical Research, Clinical Immunology Society, Pediatric Infectious Diseases Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

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.

John Wilson Georgitis, MD  Consulting Staff, Lafayette Allergy Services

John Wilson Georgitis, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American College of Chest Physicians, American Lung Association, American Medical Writers Association, and American Thoracic Society

Disclosure: Nothing to disclose.

David Pallares, MD  Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville School of Medicine

David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD  Associate Professor, Division of Pulmonary, Allergy/Immunology, and Infectious Diseases, Department of Pediatrics, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Mucosal Immunology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Thanks to Oswaldo Castro, MD, for his assistance in reviewing this manuscript and providing expertise with regards to management of patients with sickle cell disease and asplenia.

References

  1. Fremont RD, Rice TW. Splenosis: a review. South Med J. Jun 2007;100(6):589-93. [Medline].

  2. Leahy RT, Philip RK, Gibbons RJ, et al. Asplenia in ATR-X Syndrome: a second report. Am J Med Genet A. 2005;15;139 (1):37-9. [Medline].

  3. Pollak U, Bar-Sever Z, Hoffer V, Marcus N, Scheuerman O, Garty BZ. Asplenia and functional hyposplenism in autoimmune polyglandular syndrome type 1. Eur J Pediatr. Feb 2009;168(2):233-5. [Medline].

  4. Casey B, Devoto M, Jones KL, Ballabio A. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet. Dec 1993;5(4):403-7. [Medline].

  5. US Preventive Services Task Force. Screening for sickle cell disease in newborns: recommendation statement. Am Fam Physician. May 1 2008;77(9):1300-2. [Medline].

  6. Committee on Infectious Diseases American Academy of Pediatrics. Red Book: 2006 Report of the Committee on Infectious Diseases. 27th Ed. 2006.

  7. Updated recommendation from the Advisory Committee on Immunization Practices (ACIP) for revaccination of persons at prolonged increased risk for meningococcal disease. MMWR Morb Mortal Wkly Rep. Sep 25 2009;58(37):1042-3. [Medline].

  8. Elsayes KM, Narra VR, Mukundan G, et al. MR imaging of the spleen: spectrum of abnormalities. Radiographics. 2005;Jul-Aug;25(4):967-82. [Medline]. [Full Text].

  9. Garson A, Bricker JT, McNamara DG. The Science and Practice of Pediatric Cardiology. Vol 3. 1990:1288-97.

  10. Gill DG, Kara M, Moore L. Archives of diseases in childhood. Vol 66. 1991:1366.

  11. Gorg C, Eickhorn M, Zugmaier G. The small spleen: sonographic patterns of functional hyposplenia or asplenia. J Clin Ultrasound. 2003;Mar-Apr;31(3):152-5. [Medline].

  12. Harrod VL, Howard TA, Zimmerman SA, Dertinger SD, Ware RE. Quantitative analysis of Howell-Jolly bodies in children with sickle cell disease. Exp Hematol. Feb 2007;35(2):179-83. [Medline].

  13. Katcher AL. Familial asplenia, other malformations, and sudden death. Pediatrics. 1980;65(3):633-635. [Medline].

  14. Kevy SV, Tefft M, Vawier GF, Rosen FS. Hereditary splenic hypoplasia. Pediatrics. Nov 1968;42(5):752-7. [Medline].

  15. Lane PA, O'Connell JL, Lear JL, et al. Functional asplenia in hemoglobin SC disease. Blood. Apr 15 1995;85(8):2238-44. [Medline].

  16. Lin XZ, Chang TM, Tsai HM, et al. Liver, spleen and tumor volume measured by personal computer. Hepatogastroenterology. Mar-Apr 1999;46(26):838-42. [Medline].

  17. Lindor NM, Smithson WA, Ahumada CA, et al. Asplenia in two father-son pairs. Am J Med Genet. Mar 13 1995;56(1):10-1. [Medline].

  18. Long WA. Ivemark syndrome (cardiosplenic or heterotaxy syndrome). In: Fetal and Neonatal Cardiology. 1990:616-19.

  19. Mebius RE, Kraal G. Structure and function of the spleen. Nat Rev Immunol. Aug 2005;5(8):606-16. [Medline].

  20. Melles DC, de Marie S. Prevention of infections in hyposplenic and asplenic patients: an update. Neth J Med. Feb 2004;62(2):45-52. [Medline].

  21. Moller JH, Neal WA. Congenital cardiac anomalies. In: Fetal, Neonatal, and Infant Cardiac Disease. 1990:767-71.

  22. Morgan MS. Prophylaxis should be considered even for trivial animal bites. BMJ. May 10 1997;314(7091):1413. [Medline].

  23. Pearson HA. The spleen and disturbances of splenic function. Hematology. 1993;2:1058-9.

  24. Price VE, Blanchette VS, Ford-Jones EL. The prevention and management of infections in children with asplenia or hyposplenia. Infect Dis Clin North Am. Sep 2007;21(3):697-710, viii-ix. [Medline].

  25. Price VE, Dutta S, Blanchette VS, et al. The prevention and treatment of bacterial infections in children with asplenia or hyposplenia: practice considerations at the Hospital for Sick Children, Toronto. Pediatr Blood Cancer. 2006;May 1;46(5):597-603. [Medline].

  26. Rose V, Izukawa T, Moes CA. Syndromes of asplenia and polysplenia. A review of cardiac and non- cardiac malformations in 60 cases with special reference to diagnosis and prognosis. Br Heart J. Aug 1975;37(8):840-52. [Medline].

  27. Stiehm ER. Immunodeficiency disorders. In: Immunologic Disorders in Infants and Children. 4th ed. 1996:326-327.

  28. Tham KT, Teague MW, Howard CA, Chen SY. A simple splenic reticuloendothelial function test: counting erythrocytes with argyrophilic inclusions. Am J Clin Pathol. May 1996;105(5):548-52. [Medline].

  29. Tribioli C, Lufkin T. The murine Bapx1 homeobox gene plays a critical role in embryonic development of the axial skeleton and spleen. Development. Dec 1999;126(24):5699-711. [Medline].

  30. Waldman JD, Rosenthal A, Smith AL, et al. Sepsis and congenital asplenia. J Pediatr. Apr 1977;90(4):555-9. [Medline].

  31. Wang JK, Hsieh KH. Immunologic study of the asplenia syndrome. Pediatr Infect Dis J. Nov 1991;10(11):819-22. [Medline].

 
Previous
Next
 
Peripheral blood smear shows Howell-Jolly (HJ) bodies in RBCs.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.