Introduction:
Hepatic hamartoma is seen in two to five-year-old kids. It is a benign (non-cancerous) septated (with sectional divisions), cystic (fluid-filled sac), and painless liver tumor affecting children. The condition is less common than a hemangioma (a non-cancerous lesion resembling a reddish bump on the skin that arises from the blood vessels). The prevalence of hepatic hamartoma is common in newborn babies and kids under two years of age. It is rarely seen in adults. Though hepatic hamartoma is common in children of both genders, this condition is commonly seen in male kids. Hepatic hamartoma tends to become a malignant (cancerous) undifferentiated embryonal sarcoma when the surgical resection is not done properly. Undifferentiated embryonal sarcoma is a rare, malignant tumor in children aged five to ten years. Hepatic hamartoma shows an excellent prognosis after surgical resection.
What Is Hamartoma?
The human body, or any living organism is made up of cells and tissues. When these cells and tissues are mixed abnormally in a lesion (unusual tissue growth), it is called hamartoma. They are non-cancerous and do not spread.
What Causes Hepatic Hamartoma (HH)?
The exact causes of hepatic hamartoma are unclear. But certain genetic aspects, like the abnormal behavior of chromosomes (a chromosome is a section of the cell that carries traits like hair type, the color of skin and eyes, and facial features from parents to children) like 19 microRNA (the rearrangement of the chromosome) or mutation in the DICER1 (dice I ribonuclease III) gene that also causes unusual mRNA (micro ribonucleic acid) behavior, cause hepatic hamartoma. DICER1 is a gene responsible for producing proteins that control the activity of other genes. The mRNA is a tiny thread-like RNA (ribonucleic acid) molecule that plays a role in controlling gene expression.
Why Is Hepatic Hamartoma Called Mesenchymal Hamartoma?
The hamartoma arises from the mesenchyme (cells that form into blood vessels, bone, and cartilage) of the portal tract. The portal tract (consists of the bile duct, portal, and tiny blood vessels called arterioles) carries blood supply to the liver. It is called mesenchymal hamartoma because of its site of origin.
What Are the Symptoms of Hepatic Hamartoma?
Usually, the right lobe of the liver is the most common site for hamartoma to arise. The lesion may also appear on the left lobe. The lesion, when it enlarges in size, will put pressure on the liver and supporting structures like the lungs or stomach. The signs and symptoms of the condition of hepatic hamartoma are as follows:
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Fever.
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Cough.
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Pain.
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Weight loss.
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Respiratory distress (difficulty in breathing due to swelling of the lungs).
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Abdominal distension (swollen belly due to fluid build-up).
What Are the Diagnostic Methods for Hepatic Hamartoma?
The diagnostic methods of hepatic hamartoma are as follows:
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Physical Examination: The doctor will examine the stomach area to check for the presence of any mass and look for signs of jaundice (yellowish discoloration of the skin and eyes).
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Serum Alpha-fetoprotein (AFP) Test: Alpha-fetoproteins are proteins that are produced by the liver cells of the fetus. It is an important tumor marker (indicates the presence of cancer or cancer-causing cells) in kids. This test is performed on newborn babies to figure out if they are at risk of getting genetic defects or birth defects. AFP levels are also elevated in pregnant women, which is normal, as the liver of a developing baby inside a mother's womb also produces AFP.
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X-rays: X-rays use high-frequency electromagnetic radiation to capture images of the internal structures. This technique shows the presence of a mass in the stomach region with mixed solid and liquid contents in the lesion.
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Ultrasound Scan Abdomen: Ultrasound is an imaging technique that uses high-frequency sound waves to capture images of the internal organs or structures to detect any abnormality.
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CT Scan: Computerized tomography (CT) is an imaging technique that contains cross-sectional X-ray images of the internal organs at different angles with the help of a computer. It gives a detailed view of the targeted structure to view any abnormality.
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MRI Scan: Magnetic resonance imaging (MRI) technique uses a combination of magnetic field and radio waves from a computer to capture the internal structure and tissues of the body. It gives a very detailed view of the organ or structure.
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Digital Subtraction Angiography (DSA): Digital subtraction angiography (DSA) is a technique in which images of the blood vessels in the brain are captured to figure out the cause of the reduced blood flow. This is not a typical diagnostic test for hepatic hamartoma, but an increase in the blood vessels that supply the lesion can be viewed.
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Biopsy: A small portion of the liver is removed and viewed under a microscope to rule out any pathological changes.
How Is Hepatic Hamartoma Treated?
The treatment strategies for hepatic hamartoma are as follows:
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Surgical Resection: Surgical excision of the lesion is the best treatment option for hepatic hamartoma. A part or lining of the healthy liver beneath the lesion will be removed along with the mass.
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Aspiration: The fluid from the mass is aspirated through an ultrasound-guided technique during the surgical procedure. This will reduce the size of the lesion and will be easy to remove surgically. This technique is rarely followed.
What Are the Complications of Hepatic Hamartoma?
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Fetal Hydrops: Fetal hydrops is a life-threatening condition that results from abnormal build-up of fluid in two or multiple areas in the body of the newborn baby. The survival rate of the baby with the condition is poor.
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Respiratory Distress: Respiratory distress is difficulty in breathing due to fluid build-up in the lungs.
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Circulatory Complications: Circulatory complications are conditions that occur due to problems in the blood vessels, heart, and blood. Examples of circulatory complications are heart disease (due to reduced blood supply to the heart) and high blood pressure (increased pressure in the flow of blood inside the blood vessel).
What Are the Diseases Associated With Hepatic Hamartoma?
The diseases that are often seen with hepatic hamartoma are:
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Polycystic Kidney: Polycystic kidney disease manifests as clusters of cysts that are seen in the kidneys, which leads to kidney enlargement and kidney dysfunction.
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Congenital Liver Fibrosis: It is rare and affects the liver of the baby at birth. It is due to the scar tissue replacing the healthy liver tissues.
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Beckwith-Wiedemann Syndrome (BWS): This disease occurs due to changes in chromosomes and affects many parts of the body. The body parts of the babies with BWS are larger than usual.
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Congenital Heart Disease: It is heart disease present from birth and affects the normal functioning of the heart.
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Biliary Hamartoma: It is a non-cancerous lesion in the bile duct present since birth.
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Biliary Atresia: It is a blockage of the bile duct that carries bile from the liver and gallbladder to the small intestine. This occurs due to a defect in the bile duct during birth.
Conclusion:
Hepatic hamartoma is a cystic, benign, and rare tumor that occurs in children between the ages of two and five. This lesion causes symptoms like respiratory distress and a swollen stomach. The lesion usually appears large and filled with cyst (clear fluid) or a mixed type filled with normal cells and tissues in the lesion. They create symptoms when the lesion grows large and pressurizes the underlying and nearby structures. The treatment of the lesion is surgical removal, and the lesion does not recur. The chances of this lesion becoming a malignant tumor are high if the resection is not done properly. Though malignant transformation is rare, finding the disease accurately and following the proper treatment protocol will increase the lifespan of the child.
