What are the causes and symptoms of splenomegaly?

Causes and Symptoms of Splenomegaly

Splenomegaly is almost always a sign of an underlying systemic condition, with the most common causes being liver disease, malignancy, and infection in the United States. 1

Major Causes of Splenomegaly

Hepatic Causes (29-41% of cases)

• Chronic liver disease with portal hypertension is one of the most common causes of splenomegaly 1, 2
• Cirrhosis leads to increased portal pressure, causing passive congestion and enlargement of the spleen 3
• Wilson disease can present with isolated splenomegaly due to clinically inapparent cirrhosis with portal hypertension 4

Hematologic Causes (16-32% of cases)

• Leukemias (acute and chronic) are common hematologic causes of splenomegaly 2, 5
• Lymphomas frequently cause splenomegaly and are the most common hematologic cause in recent studies 2
• Myeloproliferative disorders, particularly myelofibrosis, are associated with massive splenomegaly (>10cm below costal margin) 4, 5
• Myelofibrosis has the highest incidence of massive splenomegaly, occurring in up to 78% of cases 5

Infectious Causes (16-36% of cases)

• Infectious mononucleosis is a common cause of acute splenomegaly 1
• Endocarditis can lead to splenic abscess and splenomegaly 4
• HIV/AIDS, particularly with opportunistic infections like Mycobacterium avium complex, can cause massive splenomegaly 2
• Malaria and schistosomiasis are common causes in tropical regions, affecting up to 80% of people in endemic areas 1

Infiltrative/Storage Disorders

• Acid sphingomyelinase deficiency (ASMD) commonly presents with hepatosplenomegaly, which can be massive (>10x normal size) 4
• Other lysosomal storage diseases like Gaucher disease, Niemann-Pick disease type C, and lysosomal acid lipase deficiency (LALD) frequently present with splenomegaly 4, 6

Other Causes

• Congestive heart failure can cause passive congestion of the spleen 2, 5
• Primary splenic disorders (e.g., splenic vein thrombosis) 2
• Inflammatory conditions (e.g., rheumatoid arthritis, sarcoidosis) 5

Symptoms of Splenomegaly

Direct Symptoms Related to Enlarged Spleen

• Left upper quadrant pain or discomfort 1
• Early satiety due to compression of the stomach 7
• Left shoulder pain (Kehr's sign) if splenic capsule is stretched 1
• Palpable mass below left costal margin (when spleen is significantly enlarged) 1

Symptoms of Hypersplenism

• Fatigue and weakness due to anemia 3
• Easy bruising or bleeding due to thrombocytopenia 3
• Increased susceptibility to infections due to leukopenia 3

Symptoms Related to Underlying Causes

• Fever, night sweats, and weight loss (B symptoms) in lymphoma or infectious causes 2
• Jaundice, ascites, and other signs of liver disease in hepatic causes 4
• Bone and joint pain in storage disorders like ASMD 4
• Dyspnea due to associated interstitial lung disease in ASMD 4

Complications of Splenomegaly

• Splenic rupture, especially with trauma or contact sports 1
• Splenic infarction, which may present as sudden left upper quadrant pain 4
• Splenic abscess, particularly in patients with endocarditis (presents with persistent fever and left upper quadrant pain) 4
• Portal hypertension with resulting esophageal varices and risk of bleeding 3

Diagnostic Approach

• Abdominal ultrasound is recommended to confirm splenomegaly and assess for other abdominal pathology 6, 1
• Complete blood count to assess for cytopenias (anemia, thrombocytopenia, leukopenia) 6
• Liver function tests to evaluate for hepatic causes 1
• Specialized testing based on clinical suspicion (e.g., genetic testing for storage disorders, bone marrow biopsy for hematologic causes) 6

Management Considerations

• Treatment is directed at the underlying cause 1
• Splenectomy may be considered for symptomatic hypersplenism but carries risks of overwhelming post-splenectomy infection 3
• Patients with splenomegaly should avoid contact sports due to risk of splenic rupture 1