Who should a patient with splenomegaly be referred to?

Referral for Splenomegaly

Patients with splenomegaly should be referred to a hematologist as the first-line specialist, as splenomegaly is most commonly associated with hematologic disorders. 1

Initial Assessment Before Referral

• Splenomegaly is almost always a sign of a systemic condition and requires thorough evaluation 2
• Abdominal ultrasound should be performed to confirm splenomegaly and assess for other abdominal pathology 3
• Complete blood count is essential to assess for cytopenias (anemia, thrombocytopenia, leukopenia) which may indicate portal hypertension or hematologic disorders 3
• Liver function tests should be obtained to evaluate for hepatic causes of splenomegaly 4

Referral Algorithm Based on Suspected Etiology

Primary Referral: Hematologist

• Hematology referral is indicated as the first step for most cases of splenomegaly because:
  • Hematologic malignancies are among the most common causes of splenomegaly 1
  • Indolent lymphomas (chronic lymphocytic leukemia, hairy cell leukemia, splenic marginal zone lymphoma) and myeloproliferative neoplasms are the most prevalent hematologic malignancies associated with splenomegaly 1
  • Hematologists can perform bone marrow examination which may be informative in patients older than 60 years or those with systemic symptoms 4
  • Hypersplenism with associated cytopenias requires hematologic evaluation 5

Secondary Referrals Based on Specific Findings

• Hepatologist/Gastroenterologist: If there is evidence of liver disease, portal hypertension, or ascites 4

  • Cirrhosis with portal hypertension is a common cause of splenomegaly 4
  • Decreased portal blood flow velocity on Doppler ultrasound suggests portal hypertension 4

• Infectious Disease Specialist: If infectious etiology is suspected 4

  • Particularly for patients with travel history to tropical regions where malaria and schistosomiasis are common 2
  • Fever with splenomegaly suggests infectious causes 6

• Rheumatologist: If autoimmune disorders are suspected 4

  • Systemic lupus erythematosus and rheumatoid arthritis with Felty syndrome can cause splenomegaly 4

• Medical Geneticist: If storage disorders are suspected 3

  • Consider in young adults with unexplained hepatosplenomegaly 3
  • Acid sphingomyelinase deficiency (ASMD), Gaucher disease, and other lysosomal storage disorders can present with significant splenomegaly 4

Important Considerations for Referral

• Splenomegaly with normal/increased platelet counts in patients with myeloproliferative disorders may benefit from low-dose aspirin therapy 7
• Patients with massive splenomegaly (>15 cm below left costal margin) who are candidates for allogeneic hematopoietic cell transplantation may require treatment to reduce spleen size before transplantation 8
• Palliative splenic irradiation may be considered for symptomatic splenomegaly in hematologic disorders when other treatments have failed 9

Red Flags Requiring Urgent Referral

• Sudden left upper quadrant pain may indicate splenic infarction or rupture 6
• Thrombocytopenia with splenomegaly increases risk of bleeding 5
• Patients with splenomegaly should refrain from contact sports to decrease risk of splenic rupture 2
• Splenomegaly with signs of ITP but with moderate to massive enlargement suggests an alternative diagnosis requiring prompt evaluation 4

Pitfalls to Avoid

• Do not assume ITP is the cause of splenomegaly, as less than 3% of ITP patients have splenomegaly 7
• Do not miss the diagnosis of storage disorders like ASMD, which often has a 4+ year delay in diagnosis due to its rarity 3
• Avoid unnecessary diagnostic splenectomy, as current diagnostic options usually allow for definitive diagnosis without surgery 1