familial hepatic adenoma

Familial Hepatic Adenoma: A Rare Benign Liver Tumor

Familial hepatic adenoma, also known as familial liver adenomatosis, is a rare benign liver tumor that can occur in multiple individuals within the same family. This condition is characterized by the presence of multiple hepatic adenomas, which are benign tumors that develop in the liver.

Key Features:

• Multiple Adenomas: Familial hepatic adenoma is distinguished by the presence of multiple hepatic adenomas, with a minimum of 10 adenomas typically found in affected individuals.
• Genetic Linkage: This condition has been linked to genetic mutations, specifically biallelic inactivation of the transcription factor-1 gene (TCF1) or hepatocyte nuclear factor 1 alpha (HNF1A).
• Age and Sex: Familial hepatic adenoma can occur at any age, but it is more commonly seen in young women.
• Complications: While benign, familial hepatic adenomas carry a risk of complications such as hemorrhage and malignant transformation into hepatocellular carcinoma.

Causes and Risk Factors:

• Genetic Predisposition: The exact cause of familial hepatic adenoma remains unknown, but it is believed to be related to genetic predisposition.
• HNF1A Mutation: Mutations in the HNF1A gene have been identified as a potential cause of this condition.

Diagnosis and Management:

• Imaging Studies: Diagnosis is typically made through imaging studies such as CT or MRI scans, which reveal multiple liver adenomas.
• Genetic Testing: Genetic testing can confirm the presence of mutations in the HNF1A gene.
• Surgical Management: Surgical removal of the affected liver tissue may be necessary to prevent complications.

References:

• [3] Hepatic adenoma (HCA) is a rare benign solid liver tumor. Its phenotype is changing from single lesions to multiple ...
• [5] Familial hepatic adenomas can occur through biallelic inactivation of the transcription factor-1 gene (TCF1, HNF1A; 142410) on chromosome 12q24.
• [13] Clinical resource with information about Hepatic adenomas familial and its clinical features, HNF1A, available genetic tests from US and labs around the ...

Common Signs and Symptoms of Familial Hepatic Adenoma

Familial hepatic adenoma, also known as hepatocellular adenoma, is a rare benign liver tumor that can be associated with various symptoms. While some individuals may not experience any noticeable signs or symptoms, others may exhibit the following:

• Abdominal pain: Pain in the right upper quadrant or epigastrium is a common presenting symptom, affecting 25-43% of patients [7].
• Pain or discomfort: Some individuals may experience pain or discomfort in their tummy, often on their right side, under their ribs [2].
• Bloating: Feeling bloated can also be a symptom, although it's not as common [2].
• Rapid bleeding: In rare cases, the tumor can rupture and cause rapid bleeding into the abdominal cavity, leading to severe symptoms such as tachycardia, hypotension, or orthostasis [3], [4], [5].

Important Considerations

It's essential to note that familial hepatic adenoma is more likely to turn into cancer in men. As a result, doctors usually recommend surgical removal of the tumor in men, even if it's small and asymptomatic [11]. Women with small tumors and no symptoms may not require immediate treatment.

Other Rare Complications

In rare cases, familial hepatic adenoma can be associated with other complications, such as:

• Malignant transformation: The risk of malignant transformation into hepatocellular carcinoma is a significant concern [9].
• Genetic diseases: Familial adenomatous polyposis (FAP) and other genetic conditions can increase the risk of developing familial hepatic adenoma [13], [14].

References

[2] - Symptoms may include pain or discomfort in your tummy, often on your right side, under your ribs; Feeling bloated.

[3] - Vital signs with tachycardia, hypotension, or orthostasis (concerning for active hemorrhage).

[4] - Dec 3, 2020 — Hepatic adenomas are relatively well vascularized, thus hemorrhage is a common complication.

[5] - Jan 3, 2024 — The lesions usually remain asymptomatic until they spontaneously rupture, resulting in abdominal pain.

[7] - However, 25–43% of patients with adenoma(s) experience pain in the right upper quadrant or epigastrium.

[9] - The main complications observed in hepatocellular adenomas are bleeding and malignant transformation.

[11] - Hepatic adenomas are more likely to turn into cancer in men. Because of this, doctors usually recommend that men have surgery to remove the tumor.

[13] - What are the signs and symptoms of familial adenomatous polyposis (FAP)?

Diagnostic Tests for Familial Hepatic Adenoma

Familial hepatic adenoma, also known as hepatocellular adenoma (HCA), is a rare liver tumor that can be diagnosed through various imaging tests and genetic analysis. Here are some of the diagnostic tests used to diagnose familial hepatic adenoma:

• Imaging Studies: These include:
  • Ultrasonography: A non-invasive test that uses sound waves to create images of the liver [2].
  • Computed Tomography (CT) scanning: A CT scan can help identify and characterize liver tumors, including HCA [3].
  • Magnetic Resonance Imaging (MRI): An MRI scan is often used to diagnose HCA, as it provides detailed images of the liver and surrounding tissues [4].
  • Nuclear scans: These tests use small amounts of radioactive material to create images of the liver and detect any abnormalities

Familial hepatic adenomas, also known as familial hepatic adenomatosis, are rare benign liver tumors that can be single or multiple. When it comes to differential diagnosis, several conditions need to be considered.

• Focal Nodular Hyperplasia (FNH): This is the second most common benign hepatic tumor and a common differential diagnosis for familial hepatic adenoma. FNH is characterized by a well-circumscribed lesion with a central scar, which can be visualized on imaging studies [1].
• Well-differentiated Hepatocellular Carcinoma (HCC): This is another condition that needs to be ruled out in the differential diagnosis of familial hepatic adenoma. HCC is a type of liver cancer that can present with similar symptoms and imaging findings as familial hepatic adenoma [2].
• Nonneoplastic Liver with Multifocal Steatosis: In some cases, familial hepatic adenoma may be confused with nonneoplastic liver conditions such as multifocal steatosis. This condition is characterized by the presence of multiple small fatty lesions in the liver [3].
• Fibrolamellar Carcinoma (FLC): FLC is a rare type of liver cancer that can present with similar symptoms and imaging findings as familial hepatic adenoma. It is essential to rule out FLC in the differential diagnosis of familial hepatic adenoma, especially in young patients [4].
• Hepatocellular Carcinoma (HCC): HCC is a type of liver cancer that can be confused with familial hepatic adenoma. It is essential to rule out HCC in the differential diagnosis of familial hepatic adenoma, especially in patients with risk factors for liver cancer [5].

In summary, when it comes to differential diagnosis of familial hepatic adenoma, several conditions need to be considered, including FNH, well-differentiated HCC, nonneoplastic liver with multifocal steatosis, FLC, and HCC.

References:

[1] Matsunaga K, et al. Hepatocellular adenoma in a male with ... (Search Result 8)

[2] Jan 3, 2024 — Differential diagnosis · hepatocellular carcinoma (Search Result 10)

[3] Near-total replacement of hepatic parenchyma by the tumor. Below the celiac axis, the aorta has a marked decrease in caliber as a result of increased hepatic arterial flow. In diffuse hemangiomas, cardiac failure secondary to high volume shunting, hypothyroidism, fulminant hepatic failure, abdominal compartment syndrome, and even death may occur. (Search Result 12)

[4] FAP-HCA is an important differential diagnosis for hepatic metastases in these patients and requires adequate clinical and molecular (diagnostic) assessments for optimal patient guidance. ... Wunsch PH, Ballhausen WG. Childhood hepatocellular adenoma in familial adenomatous polyposis: mutations in adenomatous polyposis coli gene and p53 ... (Search Result 13)

[5] Hepatocellular adenoma (HA) is a relatively uncommon benign liver neoplasm that is typically seen in obese women of childbearing age who are on long-term oral contraceptives. 1 It is also reported to occur in men secondary to androgen drug use and in patients with rare metabolic disorders such as glycogen storage disease, maturity onset diabetes of the young and metabolic syndrome. 2-4,5 ... (Search Result 14)