From the Guidelines
Massive hepatomegaly is most commonly caused by conditions such as malignancies, storage diseases, infectious diseases, vascular conditions, and cystic diseases, which significantly enlarge the liver and can lead to morbidity and mortality if left untreated. The causes of massive hepatomegaly can be categorized into several groups, including:
- Malignancies such as hepatocellular carcinoma, metastatic cancer, and lymphoma, which can cause substantial liver enlargement as tumor cells proliferate 1
- Storage diseases like glycogen storage diseases, amyloidosis, and Gaucher disease, where abnormal substances accumulate in liver cells 1
- Infectious diseases including viral hepatitis, schistosomiasis, and liver abscesses, which may lead to massive hepatomegaly through inflammation and tissue damage 1
- Vascular conditions like right-sided heart failure, Budd-Chiari syndrome, and veno-occlusive disease, which cause blood congestion in the liver 1
- Cystic diseases such as polycystic liver disease and hydatid cysts, which can dramatically increase liver size 1
- Alcoholic liver disease and non-alcoholic fatty liver disease, which may progress to significant hepatomegaly due to fat accumulation and inflammation 1
Diagnosis of massive hepatomegaly typically requires imaging studies (ultrasound, CT, or MRI), blood tests, and sometimes liver biopsy to determine the underlying cause, as treatment depends on addressing the specific etiology rather than the hepatomegaly itself 1. It is essential to prioritize the most recent and highest quality study, which in this case is 1, to guide clinical decision-making and ensure the best possible outcomes for patients with massive hepatomegaly.
From the FDA Drug Label
Lactic acidosis and severe hepatomegaly with steatosis, including fatal cases, have been reported with the use of nucleoside analogue inhibitors, including entecavir, alone or in combination with antiretrovirals. A majority of these cases have been in women. Obesity and prolonged nucleoside inhibitor exposure may be risk factors Particular caution should be exercised when administering nucleoside analogue inhibitors to any patient with known risk factors for liver disease; however, cases have also been reported in patients with no known risk factors.
The causes of massive hepatomegaly include:
- Lactic acidosis with steatosis
- Nucleoside analogue inhibitors, such as entecavir, alone or in combination with antiretrovirals
- Obesity
- Prolonged nucleoside inhibitor exposure These causes are associated with the use of entecavir 2, 2, and 2.
From the Research
Causes of Massive Hepatomegaly
The causes of massive hepatomegaly are diverse and can be categorized into several groups, including:
- Metabolic diseases, such as lysosomal storage diseases (LSDs) 3
- Neoplastic conditions, including hepatocellular carcinoma (HCC) 4, 5
- Infectious diseases, which can cause fetal hepatomegaly 6
- Congestive conditions, such as those related to cardiac dysfunction
- Toxic and inflammatory conditions, which can lead to liver enlargement
Specific Causes
Some specific causes of massive hepatomegaly include:
- Lysosomal storage diseases, which are a group of rare genetic disorders characterized by the accumulation of abnormal metabolites in the lysosomes 3
- Hepatocellular carcinoma, which is a primary malignancy of the liver and can cause significant liver enlargement 4, 5
- Fetal hepatomegaly, which can be caused by infection, transient abnormal myelopoiesis, liver storage and deposition diseases, and other conditions 6
- Liver tumors, such as those associated with HCC or other neoplastic conditions
- Biliary atresia, which is a condition characterized by the obstruction of the bile ducts and can cause liver enlargement 6
Diagnostic Approach
The diagnostic approach to massive hepatomegaly involves a combination of clinical evaluation, laboratory tests, and imaging studies. The diagnosis of LSDs, for example, can be facilitated by molecular testing and enzymatic testing 3. The diagnosis of HCC typically involves imaging studies, such as ultrasound or MRI, and may also involve biopsy or other diagnostic procedures 4, 5.