From the Guidelines
Hepatosplenomegaly is most commonly caused by infections, hematologic disorders, storage diseases, autoimmune conditions, and cirrhosis with portal hypertension, as evidenced by recent studies 1. The causes of hepatosplenomegaly can be broadly categorized into several disease groups, including:
- Infections such as viral hepatitis, malaria, leishmaniasis, schistosomiasis, and infectious mononucleosis
- Hematologic disorders like leukemias, lymphomas, hemolytic anemias, and myeloproliferative disorders
- Storage diseases including Gaucher disease, Niemann-Pick disease, and glycogen storage diseases
- Autoimmune conditions such as systemic lupus erythematosus and rheumatoid arthritis
- Cirrhosis with portal hypertension, which is a major complication of liver disease and can lead to variceal development and bleeding, as noted in a 2020 study 1 The underlying pathophysiology of hepatosplenomegaly typically involves inflammation, cellular infiltration, congestion from impaired blood flow, or accumulation of abnormal metabolic products within the liver and spleen. Diagnosis requires a thorough history, physical examination, laboratory tests, imaging studies, and sometimes tissue biopsy, as outlined in guidelines for liver cirrhosis and portal hypertension 1. Treatment should be directed at the underlying cause of hepatosplenomegaly, rather than the condition itself, which is a physical finding rather than a disease, and may involve antimicrobials, chemotherapy, enzyme replacement, or immunosuppressants, depending on the underlying cause 1.
From the Research
Causes of Hepatosplenomegaly
The causes of hepatosplenomegaly, which is the abnormal enlargement of the liver and spleen, can be diverse and include various metabolic, congestive, neoplastic, infectious, toxic, and inflammatory conditions 2.
- Metabolic diseases, such as lysosomal storage diseases (LSDs), are a group of rare conditions that can cause hepatosplenomegaly due to the accumulation of abnormal metabolites in the lysosome, leading to organ dysfunction 2.
- Infectious diseases, including malaria and Schistosoma mansoni infection, are common causes of hepatosplenomegaly in certain regions, particularly in sub-Saharan Africa 3, 4.
- Chronic exposure to malaria and Schistosoma mansoni infection can result in similar clinical presentations, with the liver and spleen being chronically enlarged and firm, and can have synergistic effects on hepatosplenomegaly 3, 4.
- The health implications of chronic hepatosplenomegaly can be significant, including increased portal pressure, growth stunting, and potential long-term health consequences 3.
- Immunological mechanisms, including pro-inflammatory and regulatory modulators, are thought to underlie the pathogenic process of hepatosplenomegaly associated with chronic malaria exposure and schistosomiasis 4.