Splenomegaly

Relevant physical signs

• Stigmata of chronic liver disease
  • Clubbing
  • Leukonychia
  • Palmar erythema
  • Spider naevi (central arterioles which blanch and fill from inside out)
  • Gynaecomastia
  • Loss of body hair
  • Caput medusae
• Stigmata of decompensated liver disease
  • Asterixis
  • Encephalopathy
  • Ascites
  • Icterus
• Stigmata of portal hypertension
  • Distended abdominal veins
  • Ascites
• Signs of rheumatoid arthritis
  • Symmetrical deforming polyarthropathy
  • Vasculitic rash
  • Rheumatoid nodules
  • Scars suggestive of previous hand surgery
• Signs of underlying haematological disease
  • Hepatomegaly
  • Jaundice
  • Lymphadenopathy
  • Anaemia
  • Bone marrow biopsy scars

Differential diagnosis

• Infection
  • Viral: Epstein-Barr virus, cytomegalovirus, human immunodeficiency virus
  • Bacterial: bacterial endocarditis, tuberculosis, brucellosis, syphilis
  • Parasitic: malaria, leishmaniasis, schistosomiasis
• Haematological
  • Without lymphadenopathy: myeloproliferative disorders
    • Chronic myeloid leukaemia
    • Myelofibrosis
    • Polycythaemia rubra vera
    • Essential thrombocytosis
  • With lymphadenopathy: lymphoproliferative disorders
    • Lymphoma (Hodgkin / non-Hodgkin lymphoma)
    • Chronic lymphocytic leukaemia
    • Acute lymphoblastic leukaemia
  • Destructive
    • Thalassaemia intermedia / major
    • Hereditary spherocytosis
    • Autoimmune haemolytic anaemia
    • Immune thrombocytopaenia purpura
  • Congestive
    • Cirrhosis
    • Left-sided portal hypertension (portal vein thrombosis, splenic vein thrombosis)
  • Inflammatory
    • Rheumatoid arthritis (Felty’s syndrome)
    • Systemic lupus erythematosus
  • Neoplastic
    • Haemangiomas
    • Metastatic deposition (lung, breast, melanoma)
  • Infiltrative
    • Amyloidosis
    • Gaucher’s disease
    • Sarcoidosis

Evaluation

• Confirm diagnosis: ultrasound of the abdomen
  • Consider CTAP if concerning features on ultrasound
  • Doppler to assess for portal vein thrombosis
• History
  • B symptoms (night sweats, fevers, malaise, weight loss)
  • Autoimmune disease (early morning stiffness, joint pain, rash)
  • Episodic haemolysis (jaundice, symptomatic anaemia)
  • Risk factors for HIV
  • Risk factors for chronic liver disease
  • Risk factors for thrombosis
  • Travel history (malaria)
• Haematological investigations
  • Full blood count – evidence of myeloproliferative / lymphoproliferative disease
  • Peripheral blood film – haemolysis, morphology, malaria parasites
  • Positron emission tomography for lymphoma
  • Bone marrow aspiration and trephine
  • JAK-2 if myeloproliferative disorders suspected
  • Philadelphia chromosome if CML suspected
• Autoimmune screen for RA and SLE: RF, anti-CCP, ANA
• Haemolysis screen
  • Lactate dehydrogenase (raised)
  • Direct Coombs’ test (positive if immune-mediated)
  • Bilirubin (raised)
  • Haptoglobin (<30)
  • Consider haemoglobin electrophoresis
• HIV test
• Chest radiograph to look for mediastinal enlargement (lymphoma)

Management

• Patient education about underlying disease process
• Treat underlying disease (should regress in infective causes)
• Severe hypersplenism may necessitate splenectomy
  • Immunization against Haemophilus, pneumococcus, meningococcus
  • Prophylactic penicillin for at least two years, consider lifelong

Summary

Sir, this patient has splenomegaly, with the spleen palpable 4 finger breadths below the costal margin. There is a scar of the right posterior superior iliac spine, suggesting previous bone marrow biopsy. There is no associated hepatomegaly, and there are no signs of chronic liver disease. There is no evidence of a symmetrical deforming polyarthropathy to suggest underlying rheumatoid arthritis, and there is no palpable lymphadenopathy to suggest a lymphoproliferative disorder. The most likely differential in the setting of isolated splenomegaly is a myeloproliferative disorder. Portal vein, splenic vein thrombosis or chronic malaria are other considerations.