From the Guidelines
Splenomegaly, or enlarged spleen, is caused by numerous conditions, including infections, hematologic disorders, liver diseases, inflammatory conditions, storage diseases, and other causes, as supported by recent studies 1. The causes of splenomegaly can be categorized into several groups, including:
- Infections, such as bacterial infections like endocarditis and tuberculosis, viral infections such as mononucleosis (EBV), HIV, and CMV, and parasitic infections like malaria and leishmaniasis
- Hematologic disorders, including hemolytic anemias, leukemias, lymphomas, myeloproliferative disorders, and hemoglobinopathies like sickle cell disease and thalassemia
- Liver diseases causing portal hypertension, such as cirrhosis and portal vein thrombosis, which can result in congestive splenomegaly, as noted in a recent study on liver transplantation 1
- Inflammatory conditions, such as rheumatoid arthritis, systemic lupus erythematosus, and sarcoidosis, which may also cause splenic enlargement
- Storage diseases, including Gaucher's disease and Niemann-Pick disease, which lead to splenomegaly due to accumulation of substances in the spleen, as described in a study on acid sphingomyelinase deficiency 1
- Other causes, including amyloidosis, splenic cysts or tumors, and splenic vein thrombosis The spleen enlarges in these conditions either due to increased workload (filtering abnormal cells), cellular infiltration, congestion from blood flow obstruction, or inflammatory responses. Diagnosis typically requires identifying the underlying cause through history, physical examination, laboratory tests, and imaging studies, and management may involve treatment of the underlying condition, as well as symptomatic relief of splenomegaly, as recommended in a study on myeloproliferative neoplasms 1.
From the Research
Causes of Splenomegaly
The causes of splenomegaly can be diverse and are often associated with systemic conditions. Some of the common causes include:
- Liver disease, which is one of the most common causes of splenomegaly in the United States 2
- Malignancy, such as lymphoma, which can cause splenomegaly due to infiltration of the spleen by malignant cells 2, 3, 4
- Infection, such as malaria and schistosomiasis, which are common in tropical regions and can cause splenomegaly 2
- Hematologic disorders, such as hereditary spherocytosis and autoimmune cytopenia, which can cause splenomegaly due to abnormalities in blood cell production or destruction 5, 3, 4
- Other diseases, such as Gaucher disease, which can cause splenomegaly due to accumulation of abnormal cells in the spleen 4
Systemic Conditions Associated with Splenomegaly
Splenomegaly can be associated with various systemic conditions, including:
- Hepatic diseases, such as liver cirrhosis, which can cause splenomegaly due to portal hypertension 2, 5, 4
- Infectious diseases, such as infectious mononucleosis, which can cause splenomegaly due to viral infection 2
- Hematologic diseases, such as lymphoma and leukemia, which can cause splenomegaly due to malignant infiltration of the spleen 2, 3, 4
- Immunological diseases, such as autoimmune disorders, which can cause splenomegaly due to abnormal immune responses 3
Diagnostic Approaches
The diagnosis of splenomegaly typically involves a combination of physical examination, laboratory tests, and imaging studies, such as:
- Abdominal ultrasonography, which can confirm the presence of splenomegaly 2
- Laboratory tests, such as complete blood counts and liver function tests, which can help identify underlying causes of splenomegaly 2, 5, 4
- Imaging studies, such as 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT), which can help identify malignant causes of splenomegaly 3