Time out – Ddx of Splenomegaly

Before we look at the labs, let’s consider the differential diagnosis for splenomegaly (the abnormal enlargement of the spleen). Let’s keep things simple here. For more detailed information, click here.

Splenomegaly may be classified in several ways:

  • According to prevalence; most common causes include:
    • Hematologic (especially hematologic malignancy)
    • Hepatic
    • Infection
  • According to mechanism:
    • Increased splenic function (work hypertrophy), resulting from excessive function of normal splenic activities such as:
      • RBC sequestration
      • Immune-mediated hyperplasia, as seen in
        • Infections
        • Autoimmune disorders
        • Chronic inflammation, including sarcoidosis and HLH
      • Extramedullary hematopoiesis, as seen in essential thrombocythemia, polycythemia vera, and primary and secondary myelofibrosis
    • Infiltration involving abnormal intracellular or extracellular deposition of substances in the spleen secondary to:
      • Neoplasms
      • Metabolic conditions
      • Pseudocysts or true cysts
      • Splenic abscesses
    • Passive congestion due to obstruction of venous blood flow; for example cirrhosis with portal hypertension, heart failure, and splenic/portal/hepatic vein thrombosis.
  • According to whether the splenomegaly is massive (not precisely defined radiologically, but usually defined as clinically palpable > 8 cm below left costal margin or when the lower spleen pole is within the pelvis or when the spleen crosses the midline), seen most commonly in:
    • Hematological disorders
      • Chronic myeloid leukemia
      • Agnogenic myeloid metaplasia
      • Polycythemia vera
      • Essential thrombocythemia
      • Indolent lymphomas
      • Hairy cell leukemia
      • Beta-thalassemia major
    • Infectious diseases
      • Kala-azar (visceral leishmaniasis)
      • Malaria
    • Infiltrative conditions
      • Gaucher disease
      • Primary angiosarcoma of the spleen

Another perspective of the differential diagnosis of splenomegaly. Source: Blood Rev. 2009;23:105-11

After considering the various causes of splenomegaly, what additional questions would you ask the patient?

a
Do you have easy bruising or bleeding?
Our patient admits to developing easy bruising and nose bleeds over the past several weeks.
b
Have you traveled out the country recently?
Out of concern for parasitic infections. The patient denied any travel history.
c
Do you smoke marijuana?
No association with splenomegaly.
d
Do you have any history of chronic kidney disease?
No association with splenomegaly.

Let’s reorganize the differential diagnosis for splenomegaly in table format so that we can consider the likelihood of various diagnoses and follow-up questions we might want to ask our patient:

ConditionCommon cause of massive splenomegalyComments
HemoglobinopathiesNoNo past history, making this diagnosis exceedingly unlikely.
MembranopathiesNoMay be diagnosed in adulthood, but splenomegaly is not typically massive. Ask about history of gallstones.
InfectionsYes (visceral leishmaniasis and malaria)Ask about history of travel.
Chronic autoimmune disordersNoCannot rule out. Ask about arthralgias, skin rash, SICCA symptoms, Raynaud.
SarcoidosisNoCannot rule out
HLHNoCannot rule out, though no obvious underlying cause.
HyperthyroidismNoAsk about history or symptoms of hyperthyroidism.
LymphomaYesCannot rule out. Ask about history of bleeding, bruising, recurrent infection, B symptoms.
LeukemiaYesCannot rule out. Ask about history of bleeding, bruising, recurrent infection, B symptoms.
Metabolic conditionsYes (Gaucher)Cannot rule out.
Pseudocysts or true cystsNoCannot rule out. Ask about history of trauma.
Splenic abscessesNoLeading cause is bacteremia from endocarditis. Ask about history of valve defects, risk factors for endocarditis such as IV drug use.
Passive congestionNoNo history of liver disease, though should ask about history/symptoms of chronic liver disease/cirrhosis

With the exception of the symptoms referred to in the History, the answer to the questions in the previous table was negative.

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