What are the causes and management options for splenomegaly?

Causes and Management of Splenomegaly

Splenomegaly is almost always a sign of an underlying systemic condition and requires a systematic diagnostic approach to identify the cause before initiating appropriate management. 1

Common Causes of Splenomegaly

Infectious Causes

• Viral infections (infectious mononucleosis, HIV, hepatitis)
• Bacterial infections (endocarditis, tuberculosis)
• Parasitic infections (malaria, schistosomiasis - especially in tropical regions) 1

Hematologic Disorders

• Myeloproliferative neoplasms (polycythemia vera, essential thrombocythemia, myelofibrosis) 2
• Lymphoproliferative disorders (lymphomas, chronic lymphocytic leukemia)
• Hemolytic anemias
• Immune thrombocytopenia (ITP) - mild splenomegaly may be present 2

Liver Disease and Portal Hypertension

• Cirrhosis
• Portal or splenic vein thrombosis
• Alcoholic liver disease 3

Other Causes

• Autoimmune disorders (systemic lupus erythematosus)
• Storage diseases (Gaucher's disease, Niemann-Pick disease)
• Amyloidosis
• Sarcoidosis

Diagnostic Approach

Initial Evaluation

1. Abdominal ultrasound - first-line imaging test to confirm splenomegaly and assess for signs of portal hypertension 3
2. Complete blood count - to evaluate for cytopenias (anemia, thrombocytopenia, leukopenia) or blood cell abnormalities
3. Liver function tests - to assess for liver disease (AST, ALT, alkaline phosphatase, bilirubin)
4. Peripheral blood smear examination - crucial to identify abnormal cells suggesting hematologic disorders 2

Advanced Testing (Based on Initial Findings)

• FibroScan - for non-invasive assessment of liver fibrosis if liver involvement is suspected 3
• Bone marrow examination - indicated in patients >60 years, those with systemic symptoms, or when considering splenectomy 2
• Flow cytometry and cytogenetic testing - particularly helpful in identifying chronic lymphocytic leukemia 2
• Viral studies - for hepatitis, HIV, EBV
• MRCP - for cases with cholestatic liver test elevation or biliary symptoms 3

Management Approaches

Treatment of Underlying Cause

• Infectious causes - appropriate antimicrobial therapy
• Liver disease - management of portal hypertension
• Hematologic disorders - disease-specific therapy

Management of Symptomatic Splenomegaly

Pharmacological Options

• JAK inhibitors (e.g., ruxolitinib) - first-line therapy for myelofibrosis with significant splenomegaly 2

  • Dramatic spleen reduction and symptom control
  • Monitor for thrombocytopenia, anemia, and increased infection risk
  • Avoid abrupt discontinuation (risk of cytokine rebound syndrome) 2

• Hydroxyurea - previously first-line for symptomatic splenomegaly in myeloproliferative disorders (40% response rate) 2

  • Now largely superseded by JAK inhibitors
  • After 1 year, approximately 80% of patients require alternative therapy 2

Interventional Options

• Splenectomy - indicated for:

  • Large, painful splenomegaly unresponsive to JAK inhibitors
  • Refractory transfusion-dependent anemia
  • Severe hypersplenism 2
  • Carries 5-10% perioperative mortality and up to 25% morbidity 2

• Splenic irradiation - option for patients who cannot tolerate JAK inhibitors and are poor surgical candidates 2, 4

  • Low-dose palliative radiotherapy (0.5 Gy daily fractions, total 6-10 Gy)
  • Can result in splenic size reduction in ~79% of cases 4
  • Benefits are transient; routine use not recommended 2

• Low-dose radiation - therapy of choice for symptomatic extra-medullary hematopoiesis outside the spleen and liver 2

Management of Associated Cytopenias

Anemia Management

• Consider treatment when hemoglobin <10 g/dL 2
• Options include:
  • Erythropoiesis-stimulating agents (23-60% response rate)
  • Androgens (30-60% response rate)
  • Danazol (35% response rate)
  • Immunomodulating drugs (thalidomide with prednisone, lenalidomide)
  • Corticosteroids 2

Thrombocytopenia Management

• Monitor platelet counts regularly
• Consider thrombopoietin receptor agonists for severe thrombocytopenia 3

Special Considerations and Complications

• Patients should avoid contact sports to decrease risk of splenic rupture 1

• Monitor for complications:

  • Acute infections
  • Worsening cytopenias
  • Splenic infarction or rupture
  • Portal vein thrombosis 3

• For patients with limited splenic function or post-splenectomy:

  • Increased vaccination requirements
  • Prophylactic antibiotics for procedures involving the respiratory tract 1

• Regular monitoring with:

  • Laboratory testing every 6-12 months (platelet count, liver function)
  • Abdominal ultrasound every 6 months for portal hypertension assessment 3