Pediatric Asplenia Clinical Presentation

Updated: Oct 19, 2016
  • Author: Mudra Kumar, MD, MRCP, FAAP; Chief Editor: Harumi Jyonouchi, MD  more...
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Presentation

History

All patients with congenital or acquired asplenia or splenic dysfunction are at significant risk of fulminant bacteremia, especially from encapsulated bacteria.

Worldwide, most patients with asplenia or hyposplenia have an underlying hemoglobinopathy such as sickle cell disease, which causes splenic dysfunction.

  • 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 (may be autosomal dominant)

  • 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 patients with isolated congenital absence or hypoplasia of the spleen may not have any obvious clues because associated cardiovascular, pulmonary, GI, or genitourinary abnormalities may not be present to alert the physician to their underlying immunocompromised state. Children with these conditions may present to the primary caretaker with fever, overwhelming sepsis, or may even be moribund.

Features such as thrombocytosis, Howell Jolly bodies in red cells, or presence of target cells in the peripheral smear without a likely explanation should raise the suspicion of underlying splenic dysfunction.

All patients with an episode of invasive, overwhelming infections without any obvious underlying cause should be evaluated for the presence of a functional spleen. Recurrent episodes of invasive infections especially 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.

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Physical

See the list below:

  • The spleen is not usually palpable during the physical examination, except in individuals with thin abdominal musculature. Hence, lack of a palpable of spleen does not confirm asplenia.

  • Patients with sickle cell disease, particularly children, may have enlarged nonfunctional spleens, especially in their earlier years (functional asplenia).

  • In visceral heterotaxy, a right-sided liver may be mistaken for splenic enlargement.

  • The other physical findings depend on the associated anomalies.

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Causes

See the list below:

  • Asplenia (and polysplenia) may be sporadic or familial (autosomal dominant).

  • 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.

  • The spleen may be surgically removed after significant splenic trauma or rupture.

  • Splenectomy may be part of clinical management in certain clinical disorders, such as idiopathic (autoimmune) thrombocytopenic purpura, hereditary spherocytosis, storage disorders or malignancy, either to prolong red cell or platelet survival, eliminate the physiological and mass effects of massive splenomegaly (pooling), or as part of cancer management, including staging procedure.

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