Differential Diagnosis for Isolated Splenomegaly in Adults
Single Most Likely Diagnosis
- Chronic Liver Disease with Portal Hypertension: This is often the most common cause of isolated splenomegaly in adults, resulting from conditions like cirrhosis, which leads to portal hypertension and subsequent splenic enlargement.
Other Likely Diagnoses
- Infectious Mononucleosis: Caused by Epstein-Barr virus (EBV), it can lead to splenomegaly, often accompanied by fever, sore throat, and lymphadenopathy.
- Lymphoma: Both Hodgkin's and non-Hodgkin's lymphoma can cause splenomegaly, sometimes as an isolated finding, but often with other systemic symptoms.
- Chronic Lymphocytic Leukemia (CLL): A type of cancer that affects the blood and bone marrow, characterized by the production of an excessive number of immature white blood cells, leading to splenomegaly.
- Myeloproliferative Neoplasms (MPN): Conditions like polycythemia vera, essential thrombocythemia, and primary myelofibrosis can cause splenomegaly due to the overproduction of blood cells.
Do Not Miss Diagnoses
- Splenomegaly due to Sickle Cell Disease: While not the most common cause, sickle cell disease can lead to splenomegaly, especially in younger adults, due to the sickling of red blood cells causing splenic infarction and enlargement.
- Splenic Artery Aneurysm: Although rare, it's a critical diagnosis to consider because of the risk of rupture, which can be life-threatening.
- Splenic Vein Thrombosis: This condition can cause localized portal hypertension leading to splenomegaly and is important to diagnose due to the risk of complications like variceal bleeding.
Rare Diagnoses
- Gaucher's Disease: A genetic disorder causing the accumulation of harmful quantities of a certain fatty substance (lipid) throughout the body, leading to splenomegaly among other symptoms.
- Amyloidosis: A condition characterized by the deposition of amyloid (a particular type of protein) in various tissues, including the spleen, leading to its enlargement.
- Sarcoidosis: An inflammatory disease that affects multiple organs in the body, which can rarely cause splenomegaly.
- Tuberculosis: While more commonly associated with pulmonary symptoms, tuberculosis can involve the spleen and cause splenomegaly, particularly in endemic areas or in immunocompromised individuals.