Summary about Disease
Familial hepatocellular carcinoma (HCC) refers to liver cancer that occurs in multiple members of the same family, suggesting a genetic predisposition or shared environmental risk factors, or a combination of both. It is important to note that most HCC cases are not familial, but when it does occur, it warrants investigation into potential inherited risks. This does not automatically mean a specific gene is causing the cancer, but increases the likelihood of underlying genetic or environmental risk factors contributing to HCC development within the family.
Symptoms
Symptoms of familial HCC are generally the same as those for non-familial HCC. These can include:
Abdominal pain or swelling
Lump in the abdomen
Jaundice (yellowing of the skin and eyes)
Unexplained weight loss
Nausea and vomiting
Weakness or fatigue
Easy bruising or bleeding
Ascites (fluid buildup in the abdomen)
Dark urine
Pale, chalky stools
Causes
The exact cause of familial HCC is often multifactorial and complex. Potential contributing factors include:
Genetic Predisposition: Inherited mutations in genes involved in liver function, DNA repair, or cancer suppression may increase susceptibility. Specific genes are still being investigated.
Shared Environmental Exposures: Families may share exposure to environmental factors that increase HCC risk, such as:
Hepatitis B or C virus infection
Aflatoxin exposure (a toxin produced by certain molds in food)
Alcohol abuse
Non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH)
Combination of Genetic and Environmental Factors: More likely, a combination of inherited susceptibility and environmental exposures leads to HCC development in multiple family members.
Medicine Used
Treatment for familial HCC depends on the stage of the cancer, liver function, and overall health. Medical options include:
Surgery: Liver resection (partial hepatectomy) or liver transplantation are options if the tumor is localized and liver function is adequate.
Ablation Therapies: Radiofrequency ablation (RFA), microwave ablation, and cryoablation use heat or cold to destroy tumor cells.
Embolization Therapies: Transarterial chemoembolization (TACE) and transarterial radioembolization (TARE/SIRT) block blood supply to the tumor and deliver chemotherapy or radiation directly to the tumor.
Targeted Therapy: Drugs like sorafenib, lenvatinib, regorafenib, cabozantinib, and ramucirumab target specific proteins involved in cancer cell growth and survival.
Immunotherapy: Drugs like pembrolizumab, nivolumab, and atezolizumab + bevacizumab harness the immune system to attack cancer cells.
Chemotherapy: While less commonly used as a primary treatment for HCC compared to other cancers, chemotherapy may be used in certain situations.
Is Communicable
Familial HCC itself is not communicable. Cancer is not an infectious disease. However, if the underlying cause within the family is an infectious agent like Hepatitis B or C, then that virus is communicable through routes like blood or sexual contact, leading to increased HCC risk for those infected.
Precautions
For individuals with a family history of HCC, the following precautions may be considered:
Regular Screening: Undergo regular liver cancer screening, including alpha-fetoprotein (AFP) blood tests and liver ultrasound or MRI, as recommended by a physician. Individuals with chronic Hepatitis B or C infection should be screened for HCC regularly.
Vaccination: Get vaccinated against Hepatitis B.
Avoid Alcohol: Limit or avoid alcohol consumption to reduce liver damage.
Maintain a Healthy Weight: Manage weight and prevent or treat NAFLD/NASH through diet and exercise.
Avoid Aflatoxin Exposure: Store food properly to prevent mold growth and aflatoxin contamination, especially in humid climates.
Genetic Counseling: Consider genetic counseling to assess risk and discuss potential genetic testing.
Treat Underlying Liver Disease: Properly manage and treat any existing liver conditions like Hepatitis B or C.
How long does an outbreak last?
There is no outbreak. Cancer is not an infectious disease. HCC develops over time, so there is no outbreak that would "last" a specific duration. The time from initial liver damage to HCC development can vary greatly, often spanning years or decades.
How is it diagnosed?
Diagnosis of HCC in individuals with a family history involves:
Physical Exam and Medical History: Reviewing family history and risk factors.
Blood Tests: Liver function tests (LFTs), AFP (alpha-fetoprotein) levels, and tests for viral hepatitis.
Imaging Studies: Ultrasound, CT scan, or MRI of the liver to detect tumors.
Liver Biopsy: A tissue sample of the liver may be needed to confirm the diagnosis and determine the type and grade of cancer.
Timeline of Symptoms
The timeline of symptoms in HCC is variable. Early-stage HCC often has no symptoms. As the tumor grows, symptoms can gradually appear over weeks or months. The rate of symptom progression depends on the tumor size, location, and overall liver function. Symptoms may also worsen rapidly if complications such as liver failure or bleeding occur.
Important Considerations
Genetic Testing: Genetic testing may be considered in some cases of familial HCC, although specific genes responsible are not always identified. Testing may help identify inherited predispositions and inform screening strategies for other family members.
Surveillance Programs: Individuals with a strong family history of HCC may benefit from enrollment in liver cancer surveillance programs, which involve regular monitoring with imaging and blood tests.
Multidisciplinary Approach: Management of HCC should involve a multidisciplinary team of specialists, including hepatologists, oncologists, surgeons, and radiologists.
Research: Familial HCC is an area of ongoing research to identify genetic and environmental factors that contribute to the disease and to develop more effective prevention and treatment strategies.
Personalized Medicine: Treatment approaches are increasingly tailored to the individual patient, taking into account the specific characteristics of the tumor, liver function, and overall health.