Comprehensive Care for Hepatology Diseases

Liver Infections / Inflammation

Hepatitis
Hepatitis is characterised by inflammation of the liver, which is caused by several factors, including but not limited to excessive alcohol consumption, autoimmunity, and drug or toxin-induced. Depending on the underlying cause, hepatitis can range in severity from mild and self-limiting to life-threatening and transplant-required. A viral infection called "viral hepatitis" is the most common cause of hepatitis (A TO E). In terms of how long the liver has been under attack, hepatitis can be further broken down into acute and chronic forms. Acute hepatitis defines as the inflammation of the liver that lasts for less than six months, whereas chronic hepatitis is the term used when it lasts for longer than six months. However, depending on the underlying cause, acute hepatitis can result in fatal liver failure and even death. Liver fibrosis, cirrhosis, hepatocellular carcinoma, and portal hypertensive characteristics are all forms of liver damage that can be caused by chronic hepatitis, which is associated with a higher risk of death.

Alcoholic Hepatitis
Alcoholic hepatitis is a condition that occurs when you drink too much alcohol or binge drinking on a regular basis. It can cause inflammation of the liver, which can lead to permanent damage. If you drink too much alcohol for a long time, this inflammation can lead to scarring in the liver (cirrhosis) and eventually even liver cancer. It's more common in men than women and is most likely to occur in people who have other medical conditions such as obesity, diabetes or high blood pressure.

Autoimmune Hepatitis
Autoimmune hepatitis is a chronic, continuous exacerbating liver inflammation caused by an autoimmune response. Chronic inflammation of hepatocytes and liver fibrosis is hypothesised to result from the interaction of genetic predisposition, an environmental trigger, and failure of the native immune system, thus developing autoimmune hepatitis. Two distinct forms of autoimmune hepatitis have been identified. The presence of anti-smooth muscle antibodies (ASMA), with or without anti-nuclear antibodies, is the diagnostic parameter of type 1. Arf t   nti-liver/anti-kidney microsome (anti-LMK) type 1 antibodies and anti-liver cytosol (anti-LC) type 1 antibodies diagnose type 2 autoimmune hepatitis. The symptoms include fatigue, abdominal pain, joint pain, abdomen swelling due to an increase in the size of the liver and spleen, yellow discolouration of skin and eyes, and spidery blood vessels in the skin.

Fatty Liver Diseases

Alcoholic Fatty Liver Disease (AFLD)
Alcoholic fatty liver disease (AFLD) is a condition in which the liver becomes damaged as a result of excessive alcohol consumption. When a person drinks alcohol, their liver breaks down the alcohol into toxic by-products that can damage liver cells. Over time, this damage can lead to the accumulation of fat in the liver, which can cause inflammation and scarring of the liver tissue, known as fibrosis. Alcoholic fatty liver disease is the earliest stage of alcohol-related liver disease. It is reversible if the person stops drinking. But if drinking continues, it can progress to a more serious condition called alcoholic hepatitis, which is characterized by inflammation and damage to liver cells, and can ultimately lead to liver cirrhosis and liver failure.

Non-alcoholic Fatty Liver Disease (NAFLD)
The term "non-alcoholic fatty liver disease" (NAFLD) is used to describe a spectrum of conditions characterised by the existence of hepatic steatosis on imaging or histology (macro-vesicular steatosis) and absence of secondary causes of hepatic steatosis, such as heavy alcohol consumption, long-term use of medications that can cause hepatic steatosis or inherited disorders. Non-alcoholic fatty liver disease has been associated with an increase in body weight (obesity), an increase in blood sugar levels, dyslipidaemias, resistance to insulin, and metabolic syndrome. No symptoms are typically associated with NAFLD, but in some cases, it might show fatigue and pain in the right abdomen(right). Simple steatosis, steatohepatitis, fibrosis, cirrhosis, and hepatocellular cancer are all possible stages of progression for NAFLD.

Non-alcoholic Steatohepatitis (NASH)
NASH (Non-alcoholic steatohepatitis) is a malignant condition and in this fat is accumulated in the liver can cause scarring of liver, liver fibrosis and liver damage further it can cause cirrhosis of liver (also called as end-stage liver disease), further cirrhosis of the liver may lead to liver cancer.

Chronic Liver Diseases

Chronic Liver Disease
Chronic liver disease is a condition that gradually damages the liver over time. Some common causes of chronic liver disease include viral hepatitis, alcohol abuse, and nonalcoholic fatty liver disease (NAFLD). Symptoms may include fatigue, weakness, weight loss, and abdominal discomfort. Treatment options vary depending on the specific type of liver disease and may include medications, lifestyle changes, and, in some cases, surgery.

Cirrhosis
Cirrhosis is the fatal stage of liver disease, characterised by scarring, which results from persistent damage and disrupts the liver's typical lobular architecture. Liver damage can be caused by many factors, including viruses (viral hepatitis), genetic predispositions, and drug-induced and autoimmune reactions. The liver generates scar tissue in response to injury, but it can usually continue functioning normally at first. Most liver tissue fibrosis occurs after prolonged damage, resulting in diminished function and the eventual onset of cirrhosis. Micronodular, macronodular, and mixed cirrhosis are the three main morphological categories of liver cirrhosis. There are generally no symptoms of cirrhosis until the damage to the liver has progressed significantly. In some patients, it might show some potential symptoms that include weakness, low appetite, vomiting feeling, yellow discolouration of eyes and skin, lower limb oedema (swelling) such as feet and legs, ascites (fluid collection in the abdominal cavity), weight reduction, skin itchiness, red palms of the hands. In men, there might be enlargement of the breast, lack of focus, and slurred speech, whereas, in women, there is the absence of periods (unrelated to menopause).

Decompensated Cirrhosis
Decompensated cirrhosis is the advanced stage of chronic liver disease in which the liver can no longer maintain its normal functions. It is characterised by complications such as ascites, jaundice, variceal bleeding, hepatic encephalopathy, and coagulopathy. It often develops from long-standing compensated cirrhosis due to causes like chronic viral hepatitis, alcoholic liver disease, or NASH. 

Genetic / Inherited Liver Disorders

Wilson's Disease
Wilson disease is a rare autosomal recessive disorder that occurs due to excess copper accumulation throughout the body, most notably in the liver, brain, and cornea. Mutations in the ATP7B gene on chromosome 13 lead to Wilson's disease. This gene regulates a protein transporter that helps to excrete excess copper from the human body through the bile. The protein transporter is found in the liver and brain's  trans-Golgi network. The liver is responsible for excreting 95% of the body's copper. The liver becomes overwhelmed as the excess copper initially accumulates in the liver and later spills out, eventually making its way through the blood and into other organs. Oxidation of essential proteins and lipids is triggered by the free radicals produced due to surplus copper. These free radicals can cause damage to the cellular macromolecules, further leading to hepatocellular injury. Fatigue, weakness, ascites, leg swelling, skin yellowing, and itching are all symptoms of liver disease.

Gilbert Syndrome
Gilbert syndrome is an autosomal recessive disorder characterised by disrupted bilirubin metabolism in the liver. Unconjugated hyperbilirubinemia and recurrent jaundice result from impaired glucuronidation of bilirubin (a vital step for bilirubin excretion). Gilbert syndrome doesn’t require any treatment; hence, differentiating Gilbert syndrome from other illnesses of unconjugated hyperbilirubinemia is necessary. A wide range of factors can lead to unconjugated hyperbilirubinemia and jaundice in people with Gilbert syndrome. Common triggers include haemolysis, increased body temperature than normal, fasting, menstruation, and physical exercise. The bilirubin levels for unconjugated hyperbilirubinemia with Gilbert syndrome are usually below 4 mg/dL but can fluctuate depending on exacerbating factors.

AAT Deficiency
Alpha-1 antitrypsin deficiency (AATD) is a hereditary disease associated with an elevated risk of developing liver disease, skin diseases (panniculitis), respiratory disease (COPD,) and inflammation of the blood vessels (vasculitis). Symptoms may include a high heart rate when standing, shortness of breath, wheezing, a yellowish complexion of skin, problems with vision, and weight loss. Contrarily, some people with AATD have no symptoms at all. AATD occurs due to mutations in the SERPINA1 gene, leading to low production of alpha-1 antitrypsin protein. A decrease in the alpha-1 antitrypsin protein affects the liver causing poor function and raising the risk of cirrhosis and liver cancer.

Glycogen Storage Disease
It is a rare condition where there will be an abnormality in the way the body consumes and stores glycogen (sugar or glucose). This condition affects a small percentage of the population. Glycogen is the body's primary energy source, stored in the liver. Enzymes are proteins that convert glycogen stored in the liver into glucose when the bodies require more energy. People with GSD lack a key enzyme necessary for proper glycogen breakdown, resulting in glycogen accumulation in the liver. Due to this, the liver, the muscles, and other organs may all be negatively affected. Transmission of GSD occurs throughout generations (is hereditary). Based on the enzyme missed, they are several types, where type 1 (von Gierke disease), 3(Cori disease, or Forbes disease), and 4 (Andersen disease) mostly occur. The general symptoms include slow growth, intolerance to heat, abdominal swelling, liver enlargement, low blood sugar levels, muscle pain and cramping on exercise.

Galactosemia
The word “Galactosemia” means to be the presence of “galactose in blood”. It is a rare inherited carbohydrate metabolism condition where the body cannot convert galactose to glucose. Galactose is a type of sugar in human breast milk, like other milk containing the sugar galactose. Galactose also produces in the human body and is termed endogenous galactose. Galactosemia is caused by alterations (mutations) in the galactose-1-phosphate uridylyltransferase (GALT) gene, leading to deficits in the GALT enzyme. The lack of the galactose-1-phosphate uridylyltransferase (GALT) enzyme (which converts galactose to glucose) leads to an abnormal build-up of galactose in various organs of the body. At birth, a baby with galactosemia may seem normal but quickly lose its appetite and begin vomiting. Enlargement of the liver, improper growth, abdominal swelling, yellowing of the skin, mucous, and sclera of the eye is the symptoms for galactosemia.

Liver Cancer

Liver Cancer
It is also known as hepatic cancer, which begins in the liver's cells, and the liver can develop several types of cancer. Hepatocellular carcinoma is the most frequent type of liver cancer, and it develops in the major type of liver cell (hepatocyte). Several risk factors contribute to the onset of chronic liver disease, leading to hepatocellular carcinoma. Hepatitis B or hepatitis C (HBV or HCV) associated with chronic infection increases the risk of developing hepatocellular cancer. Chronic hepatitis infections with additional risk factors, such as hepatitis D (HDV) coinfection, frequent alcohol consumption, and cigarette use, may be associated with an increased risk of liver cancer.

Liver Disorders Related to Bile Flow

Primary Biliary Cholangitis (PBC)

This is an autoimmune disease where the immune system mistakenly attacks the bile ducts in the liver, causing inflammation and bile buildup. This leads to liver damage, fibrosis, and cirrhosis over time. Symptoms generally include nausea, itching, and jaundice.

Primary Sclerosing Cholangitis (PSC)

PSC is a chronic liver disease that causes inflammation and scarring of the bile ducts, which is linked with inflammatory bowel disease (IBD). It leads to bile buildup and liver damage, progressing to cirrhosis. Symptoms include fatigue, itching, and jaundice. There is no cure, but treatments like bile duct procedures or liver transplant may be needed.

Cholestasis

Cholestasis refers to a condition in which the flow of bile from the liver is reduced or blocked. This leads to the buildup of bile acids in the liver and bloodstream, which can damage liver cells. Cholestasis can be caused by various factors, including bile duct obstructions (e.g., from gallstones or tumors), liver diseases (e.g., primary biliary cholangitis or cirrhosis), or medications.

Biliary Atresia

Biliary atresia is a rare, congenital condition in which the bile ducts are absent or malformed, preventing bile from draining from the liver to the intestines. This causes bile buildup in the liver, leading to liver damage, cirrhosis, and eventually liver failure. It typically presents in infants and is often treated with surgery (Kasai procedure) to restore bile flow. In severe cases, liver transplantation may be required.

Liver Failure & Complications

Hepatic Encephalopathy
Patients with severe liver impairment often have a reversible hepatic encephalopathy (HE) syndrome. A range of neuropsychiatric disorders caused by neurotoxic chemicals accumulating in the blood and in the brain is the characteristic of this disease. Kidney failure, bleeding from the gastrointestinal tract, difficulty in passing stools, non-compliance to medications, infections, high protein intake from the diet, electrolyte imbalance, alcohol consumption, certain sedatives, analgesics, or diuretics and dehydration can all lead to hepatic encephalopathy.

The patient might feel any or all common symptoms such as disorientation, depression, low awareness, and changes in personality. In the first stages, patients frequently sleep throughout the day and remain awake all night. Patients typically show tiredness, confusion, and changes in personality throughout the middle stages. Later stages of hepatic encephalopathy can cause coma and even death.

Acute Liver Failure
Acute liver failure is when the liver suddenly stops working properly. It is a rare but severe condition that can occur due to various causes, such as viral hepatitis, drug-induced liver injury, or toxins. Symptoms of acute liver failure (ALD) can include nausea, vomiting, abdominal pain, confusion, and jaundice (yellowing of the skin and eyes). Treatment for acute liver failure typically involves hospitalization, supportive care, and, sometimes, a liver transplant.

Hepatorenal Syndrome
Hepatorenal syndrome (HRS) is a condition that causes progressive kidney failure in people who have cirrhosis or advanced chronic liver disease. It is a serious complication that might lead to death. Less urine is produced by the body due to renal (kidney) inefficiency to excrete waste products, leads to nitrogen build up in the bloodstream, known as azotemia. The disorder occurs in up to 1 in 10 people who are in the hospital with liver failure. In a few patients, Hepatorenal Syndrome (HRS) can arise independently, while in others, it is linked to bacterial infections and acute alcoholic hepatitis. The symptom might include urine discolouration (dark), vomiting, low urine output, weight changes, and yellow discolouration of the skin.

Portal Hypertension

Portal hypertension refers to increased blood pressure in the portal vein, which carries blood from the digestive organs to the liver. It commonly occurs due to cirrhosis, where scarring blocks normal blood flow through the liver. This condition can lead to serious complications such as enlarged veins in the esophagus (varices), fluid accumulation in the abdomen, and spleen enlargement. Management focuses on reducing pressure and preventing complications.

Jaundice
Jaundice, also called hyperbilirubinemia, is characterised by yellow skin discoloration due to an excess accumulation of bilirubin (yellow to orange-colour bile pigment) in the blood. Bilirubin deposition occurs only when there is an excess of bilirubin, which indicates either excessive production or decreased excretion. The normal range for bilirubin in the blood is 1 mg/dL. However, when blood bilirubin levels are above 3 mg/dL, the clinical appearance of jaundice with peripheral yellowing of the eye sclera occurs, also known as scleral icterus. As serum bilirubin levels rise, the skin's pigmentation changes, moving from lemon yellow to apple green (the green colour is caused by biliverdin). An increase in either unconjugated (indirect) or conjugated (direct) forms of bilirubin leads to jaundice disease.

Benign Liver Tumors

Liver Hemangioma

This is the most common type of benign (non-cancerous) liver tumor, consisting of clusters of abnormal blood vessels. Most liver hemangiomas are asymptomatic and detected incidentally during imaging studies conducted for other problems. These lesions are small and do not cause any symptoms. However, in some cases, larger hemangiomas may cause discomfort or pain in the upper right side of the abdomen, and in rare instances, they can rupture, leading to bleeding.

Focal Nodular Hyperplasia (FNH)

Focal nodular hyperplasia (FNH) is a common, benign (non-cancerous) liver tumor, typically appearing as a solid, non-cirrhotic mass in women aged 20–50. Often found incidentally.

Hepatic Adenoma

Hepatic adenoma is a rare, benign tumor that forms in the liver. It typically arises from hepatocytes (liver cells) and is often associated with conditions such as the use of oral contraceptives, anabolic steroid use, and metabolic disorders like glycogen storage disease. Hepatic adenomas are usually asymptomatic, but they can cause symptoms if they grow large or rupture.

Structural and vascular liver disorders

Budd–Chiari Syndrome

Budd–Chiari syndrome is a rare liver disorder, that is caused by blockage of the veins that drain blood from the liver. This blockage leads to blood congestion, liver swelling, and damage to liver cells. Patients typically present with abdominal pain, fluid accumulation (ascites), and liver enlargement.

Congestive Hepatopathy
Congestive hepatopathy is a liver condition caused by long-term heart problems, especially right-sided heart failure. Poor heart pumping leads to blood backing up into the liver, causing liver congestion and swelling. Over time, this can impair liver function and cause symptoms such as abdominal discomfort and abnormal liver test results. 

Miscellaneous / Rare Liver Disorders

Liver Cyst
A liver cyst is a fluid-filled sac that develops within the liver. They are generally benign, meaning they are not cancerous, and usually cause no symptoms. They are usually discovered incidentally during imaging tests performed for other reasons. There are two types of liver cysts: simple cysts and complex cysts. It is important to note that a liver cyst does not necessarily mean a person has liver disease. However, if a cyst is complex or causing symptoms, it is important to consult a specialist to further evaluate and monitor it.

Liver Abscess
A hepatic abscess is a pus-filled mass in the liver that can result from liver damage or an infection that has spread through the portal vein and into the abdominal cavity. Some of these abscesses are caused by parasites and fungi, but the majority are classified as pyogenic or amoebic. Entamoeba histolytica causes the vast majority of amoebic illnesses. Pyogenic abscesses are typically polymicrobial. However, E.coli, Klebsiella, Streptococcus, Staphylococcus, and anaerobes are frequently found within them. Liver abscesses are uncommon, but there is a high mortality rate among untreated patients. Therefore, early detection and management are crucial. With advances in detection and treatment, the prevalence of liver abscesses caused by appendicitis has dropped to fewer than 10%. The most common causes of pyogenic liver abscesses nowadays are diseases of the biliary tract (such as biliary stones, strictures, malignancy, and congenital abnormalities). Symptoms might include pain in the abdomen (right upper), chills with fever, low appetite, weakness, yellow skin, nausea, dark urine and clay-coloured stools.

Reye Syndrome
Reye syndrome is a rare and severe form of acute noninflammatory encephalopathy that can affect children. A child with Reye syndrome may exhibit symptoms like vomiting and confusion if the condition progress, it might lead to coma and death. If aspirin was used while recovering from a viral illness, this syndrome might occur in the days following full recovery. Viruses such as influenza A and B and varicella are the most common causes of Reye syndrome. In addition, Reye syndrome can be caused or exacerbated by drug reactions, as well as predisposing factors such as inborn errors of metabolism (a disorder where the body cannot adequately convert food into energy). The diagnosis relies on the patient's symptoms and the results of laboratory tests.

Nodular Regenerative Hyperplasia (NRH)
Nodular regenerative hyperplasia (NRH) is a rare liver condition characterized by the formation of small nodules in the liver without the scarring associated with cirrhosis. These nodules can cause liver dysfunction and increased pressure in the liver's blood vessels. NRH is often seen in patients with autoimmune diseases or long-term exposure to certain medications.

Drug-Induced Liver Injury (DILI)

DILI refers to liver damage caused by medications or herbal supplements. It can result in liver inflammation, jaundice, or more severe damage like acute liver failure. Common drugs that are linked to DILI include antipyretic, antibiotics, and statins. Discontinuing the offending drug and supportive care are the main treatments.

Liver Steatosis
Liver steatosis, also called fatty liver disease, is the accumulation of fat in liver cells. It is caused by excessive alcohol consumption (alcoholic fatty liver disease) or other factors such as obesity, diabetes, or high cholesterol (non-alcoholic fatty liver disease). In many cases, it has no symptoms but can lead to inflammation and liver damage if left untreated. 

Newborn Jaundice
Neonatal jaundice or newborn jaundice is one of the most prevalent clinical symptoms in newborn children, which is characterised by the yellow colouring of the newborn's skin and sclera (white layer of the eyeball). This is due to bilirubin accumulation in the skin and mucous membranes. At bilirubin concentrations of 90 mmol/L, newborns with lighter or paler skin tones may show indications of jaundice. Because newborns quickly create and replace a high number of red blood cells when their livers are still developing, they are not yet capable of efficiently digesting bilirubin and removing it from circulation. Around two weeks, the baby's bilirubin production decreases, and the liver becomes more efficient in removing it. Jaundice is frequent in infants, affecting around 60% of full-term and 80% of preterm neonates within the first week of life. Most jaundice cases are mild, harmless, self-limiting, and have no underlying disease (physiological or early jaundice). However, 10% of breastfed newborns still have this condition at one month.

Unclassified Liver Disorders

Dubin-Johnson Syndrome
This is a rare type of hereditary hyperbilirubinemia, characterised by a low-grade increase in conjugated bilirubin with no other signs of hepatic damage. It is caused by a mutation of the ABCC2 gene that makes hepatocytes (liver cells) unable to excrete bilirubin from the liver. The mutation of the ATP-binding cassette subfamily C member (ABCC2) gene is the leading cause of Dubin-Johnson syndrome. There are no severe implications to this disorder, and no treatment is necessary. The ABCC2 gene acts as an instructor for providing multidrug resistance protein 2 (MRP2), which transports conjugated bilirubin out of the liver cells into the bile duct as a part of bilirubin excretion. Due to the ABCC2 gene, there will be a lack of canalicular MRP2 expression, which impedes the entry of conjugated bilirubin into the bile duct system. Conjugated bilirubin builds up in hepatocytes, and its levels in the blood rise.

Glycogen Storage Disease
It is a rare condition where there will be an abnormality in the way the body consumes and stores glycogen (sugar or glucose). This condition affects a small percentage of the population. Glycogen is the body's primary energy source, stored in the liver. Enzymes are proteins that convert glycogen stored in the liver into glucose when the bodies require more energy. People with GSD lack a key enzyme necessary for proper glycogen breakdown, resulting in glycogen accumulation in the liver. Due to this, the liver, the muscles, and other organs may all be negatively affected. Transmission of GSD occurs throughout generations (is hereditary). Based on the enzyme missed, they are several types, where type 1 (von Gierke disease), 3(Cori disease, or Forbes disease), and 4 (Andersen disease) mostly occur. The general symptoms include slow growth, intolerance to heat, abdominal swelling, liver enlargement, low blood sugar levels, muscle pain and cramping on exercise.

Consult experts for a free second opinion on hepatology diseases

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