Liver disease name & Liver syndromes list | Liver related diseases

Acute Hepatic Porphyria

Acute hepatic porphyria is a hereditary condition caused by a defect in an enzyme involved in haeme synthesis and the accumulation of haeme precursors. Attacks can be unexpected, severe (seizures, psychosis, severe abdominal and back pain, and acute polyneuropathy), and even fatal. The disease starts in the patient’s liver and spreads to the nervous system. Nerve pain, vomiting, neuropathy, and convulsions are all possible symptoms.

Acute Liver Failure

Acute liver failure is a rare condition in which liver function rapidly deteriorates, resulting in coagulopathy, characterised by an increase in the international normalised ratio (INR > 1.5) as well as a change in mental status (encephalopathy). Acute liver failure frequently affects young people and has a high mortality rate.

Alagille Syndrome

Alagille syndrome is a hereditary genetic disorder (JAG1 gene mutation) in which bile accumulates in the liver and the liver is unable to drain optimal bile to the small intestine due to a lack of bile ducts, disrupting digestion of fats and the fat-soluble vitamins such as A, D, E, and K. This causes liver damage.

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Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AAT deficiency), which is characterised by an increased likelihood of developing diseases of the lungs and liver, is associated with alpha-1 antitrypsin insufficiency, which is a genetic disorder. The protein alpha-1 antitrypsin (AAT) that protects the lungs is produced by the liver. Incorrectly formed AAT proteins are stuck in the liver cells and are unable to pass via the liver and into the lungs.

Alcoholic Liver Disease

The alcohol-related liver disease (ARLD) refers to liver damage caused by excessive alcohol consumption. Drinking a lot of alcohol, even for a few days, can cause a build-up of lipids in the liver, which is known as alcoholic fatty liver disease (AFLD - first stage of ARLD). The second and third stages of ARLD are alcoholic hepatitis and cirrhosis, respectively.

Alcoholic Hepatitis

Alcoholic hepatitis is a progressive inflammatory liver injury caused by long-term excessive ethanol (alcohol) consumption. Severe cases had a subacute onset of fever, hepatomegaly (an enlarged liver), leukocytosis (high white blood cell count), significant impairment of liver function (eg. jaundice, coagulopathy (a bleeding disorder)), and signs of portal hypertension (eg. ascites, hepatic encephalopathy, variceal hemorrhage).

Amoebic Liver / Hepatic Abscesses

Amebiasis is a parasitic infection caused by the protozoan Entamoeba histolytica that is transmitted through fecal–oral route. The infection can cause symptoms ranging from asymptomatic to various problems related to liver abscesses. The most prevalent extraintestinal manifestation of amebiasis is an amoebic liver abscess. Men aged 18 to 50 are mostly affected, and 80% of patients with this condition will have symptoms within 2 to 4 weeks, including fever and right upper quadrant abdominal pain, with 10% to 35% of patients reporting associated gastrointestinal symptoms.

Autoimmune Hepatitis

Autoimmune hepatitis is a chronic disease of unknown cause, that occurs when the body's immune system turns against healthy liver cells. It is characterised by continuing hepatocellular inflammation and necrosis, and it has the potential to progress to cirrhosis.

Benign Liver Tumours

Benign liver tumours are non-cancerous abnormal growths that can develop to be large enough to cause health related problems, but they do not invade neighbouring tissues or spread to other parts of the body.

Biliary Atresia

Biliary Atresia is a congenital condition, where the bile ducts inside or outside the liver do not develop normally. As a result, bile flow from the liver to the gallbladder is obstructed, resulting in bile accumulation and liver damage, including cirrhosis of the liver.

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Cardiac Cirrhosis and Congestive Hepatopathy

Cardiac cirrhosis (congestive hepatopathy) refers to a group of hepatic abnormalities that arise in the context of right-sided heart failure. Clinically, the disease is dominated by the signs and symptoms of congestive heart failure (CHF).

Cirrhosis

Cirrhosis is defined histologically as a chronic hepatic disease characterized by fibrotic conversion of the normal liver tissue into abnormal lesions. Cirrhosis can develop from liver injury over a period of weeks to years.

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Crigler-Najjar Syndrome

Crigler-Najjar syndrome is a rare autosomal recessive hereditary disorder characterised by a deficiency or absence of UDP-glucuronosyltransferase activity, an enzyme necessary for the glucuronidation of unconjugated bilirubin in the liver. It's a leading cause of non-hemolytic jaundice at birth.

Dubin-Johnson Syndrome

Dubin-Johnson syndrome is an autosomal recessive, hereditary, recurrent, benign bilirubin metabolism condition. It is characterised by abnormal bilirubin excretion into bile, resulting in reduced hepatic bilirubin clearance and conjugated hyperbilirubinemia with normal liver transaminases.

Conjugated Hyperbilirubinemia

Conjugated hyperbilirubinemia is defined as a level of directly reacting bilirubin greater than 1.0 mg/dL when total serum bilirubin (TSB) is greater than 5.0 mg/dL, or more than 20% TSB. It is a cholestasis biomarker and a symptom of hepatobiliary dysfunction. 

Galactosemia

Galactosemia is an exceedingly rare inherited condition that causes the inability to effectively convert galactose. People suffering from this rare genetic illness are unable to convert endogenous galactose (generated by human cells, including human mother's milk and other dairy products) into glucose.

Gilbert Syndrome

Gilbert syndrome is a harmless, common, inherited mutation of a gene that affects the liver’s ability to process bilirubin, a waste product that forms during the breakdown of old red blood cells. Jaundice (yellowish skin and eyes) occurs when too much bilirubin builds up in the blood.

Glycogen Storage Disease

Glycogen storage disease (GSD) is a rare condition that affects the body's ability to utilise and retain glycogen (a form of sugar or glucose). In healthy people, the liver acts as a storage depot for glycogen, as the food consumed (carbohydrate) converts into glucose and excess glucose gets stored in the liver as glycogen. In times of high energy demand, the body converts glycogen stored in the liver into glucose via a series of chemical reactions catalysed by enzymes.

Hemochromatosis

Hemochromatosis, or “iron overload,” is a hereditary condition, where the body absorbs and stores too much iron. Excess iron storage in the body organs leads to life-threatening conditions, such as liver disease, pancreatic diseases, and heart problems.

Hepatic Cysts

Hepatic cysts in the liver, called hepatic cysts, are filled with fluid but rarely cause any symptoms and are found incidentally on imaging studies. They are sometimes linked to life-threatening complications such as biliary tree infection, bleeding, rupture, or compression.

Hepatic Encephalopathy

Patients suffering from liver disease may develop a variety of neuropsychiatric diseases known as hepatic encephalopathy, after exclusion of brain disease. It is a reversible syndrome of impaired brain function occurring in patients with cirrhosis and is characterised by personality abnormalities, intellectual disability, and a depressed level of consciousness.

Hepatitis

Hepatitis is an inflammatory disease of the liver. Hepatitis is most usually caused by a viral infection, but there are other causes. These include autoimmune hepatitis as well as hepatitis caused by medications, narcotics, poisons, and alcohol. Autoimmune hepatitis is a condition in which your body produces antibodies against the liver tissue. Hepatitis A, B, C, D, and E are the five major viral classifications of hepatitis. Each kind of viral hepatitis is caused by a distinct virus.

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Hepatorenal Syndrome

Hepatorenal syndrome (HRS) is a condition that causes renal failure in patients who have portal hypertension and ascites, as well as advanced chronic liver disease or, in rare cases, fulminant hepatitis. At least 40% of patients with cirrhosis and ascites are predicted to develop HRS at some point in the course of their disease.

Intrahepatic Cholestasis of Pregnancy

Intrahepatic cholestasis of pregnancy (ICP) is a potentially life-threatening liver disease that can occur during pregnancy. When digestion is working properly (a healthy condition), bile acids travel from the liver to the small intestines to digest food. In ICP, bile acids accumulate because they are unable to flow properly. There is currently no treatment for ICP, however, it should resolve after giving birth.

Isoniazid Toxicity

Isoniazid (INH) is a highly effective antibiotic used to treat tuberculosis. Toxicity from INH therapy can be acute or chronic. Acute toxicity can occur after consuming 2 g of INH and produce neurological symptoms; however, chronic toxicity typically manifests as hepatotoxicity and peripheral neuropathy.

Jaundice

Jaundice, also known as hyperbilirubinemia, is a condition characterised by a yellow discoloration of the body tissue (skin, eye sclera, and mucous membranes) resulting from the deposition of excess bilirubin, a yellow-orange bile pigment formed by breakdown of red blood cells and secreted by the liver. This indicates increased production, impairment of uptake, conjugation, and excretion of unconjugated or conjugated bilirubin from damaged hepatocytes or bile ducts. Jaundice has many causes, including hepatitis, gallstones, and tumours.

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Liver Abscess

Liver abscess is a pus-filled mass in the liver that can form as a result of liver damage or an intraabdominal infection spread by the portal circulation. The bulk of these abscesses are classified as pyogenic or amoebic (such as Entamoeba histolytica, E. coli, Klebsiella, Streptococcus, Staphylococcus, etc.), with a small percentage caused by parasites or fungi.

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Liver cyst

Liver cyst or a simple hepatic cyst is a hollow area of the liver that fills with fluid. These are asymptomatic, and in most cases, they do not necessitate medical attention. However, they may become large enough to start feeling uncomfortable or even painful in the upper right abdomen. Ultrasound and CT scans are useful for diagnosing liver cysts. If necessary, the cyst can be drained or surgically removed.

Liver Cancer

Liver cancer develops when normally functioning cells undergo mutation and multiply out of control, forming a tumour mass. Cancer can happen in any tissue. When hepatic cells (liver cells) proliferate out of control, it is called liver cancer. Both malignant and benign forms of tumours exist. If left untreated, a malignant tumour may quickly develop and metastasize (spread) to other organs. When a tumour is considered benign, it might still grow but will not metastasize.

Based on the location of the abnormal cell growth and its metastasis, the liver cancers are majorly divided into two types - Primary liver cancer and Secondary liver cancer. Primary liver cancer consists of Hepatocellular carcinoma, Intrahepatic cholangiocarcinoma (bile duct cancer), Angiosarcoma and hemangiosarcoma, Hepatoblastoma, Bile duct cystadenocarcinoma, Embryonal sarcoma whereas Secondary liver cancer that has spread to the liver (metastatic cancers) from other cancerous organs such as lung, pancreatic, breast etc. through lymph and blood.

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Liver disease in pregnancy

Liver disease in pregnancy refers to a wide range of conditions that can occur at any time during or after a woman's pregnancy. Abnormal liver function tests, hepatobiliary dysfunction, or both are symptoms. It occurs in 3% to 10% of all pregnancies.

Lysosomal acid lipase deficiency (LAL-D)

Lysosomal acid lipase deficiency is an inherited, ultra-rare, and autosomal-recessive lysosomal storage disorder. LAL is an essential enzyme for the lysosomal hydrolysis of triglycerides and cholesteryl esters to generate free fatty acids and cholesterol in the cell. Accumulation of cholesteryl esters and triglycerides in the lysosomes of hepatocytes and macrophages is a central mechanism of the illness, leading to organ damage.

Neonatal Jaundice

Neonatal jaundice is also known as newborn baby jaundice, which is common and usually harmless. It causes yellowing of the skin and the sclera (the white part of the eyes). The symptoms of newborn jaundice often appear 2 days after birth and resolve without therapy by the time the baby is 2 weeks old.

Non-Alcoholic Fatty Liver Disease

Non-alcoholic fatty liver disease (NAFLD) is a condition characterised by the abnormal accumulation of fat in the liver. There are two forms of NAFLD: non-alcoholic fatty liver (NAFL) and non-alcoholic steatohepatitis (NASH).

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Non-Alcoholic Steatohepatitis

Non-alcoholic steatohepatitis (NASH) is inflammation of the liver due to the presence of excess fat cells in the liver, it is also called as “fatty liver disease”. Liver damage occurs gradually due to persistent inflammation. However, NASH is not caused by alcohol abuse, despite its resemblance to alcoholic hepatitis. Being overweight, having high blood lipids, and having high blood sugar are the most common risk factors.

Primary biliary cholangitis

Primary biliary cholangitis is formerly known as primary biliary cirrhosis and is an autoimmune disease (the body's immune system mistakenly attacks healthy cells and tissue) that primarily affects women and causes the bile ducts in the liver to become inflamed and gradually destroyed. Chronic liver inflammation can cause bile duct damage, irreversible scarring of liver tissue (cirrhosis), and, ultimately, liver failure.

Primary Sclerosing Cholangitis

Primary sclerosing cholangitis (PSC) is a secondary chronic liver disease where the intrahepatic bile ducts (ducts present inside the liver) and extrahepatic bile ducts (ducts present outside the liver) become inflamed and scarred, narrowed or blocked. This leads to a build-up of bile in the liver, which causes further liver damage.

Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis (PFIC) is a progressive liver disease problem, that causes gradual liver degeneration, or liver failure. People with PFIC have poor bile secretion, causes bile build up inside liver cells, leads to liver disease. PFIC types include PFIC1, PFIC2, and PFIC3.

Reye Syndrome

Reye's syndrome is a very rare disorder associated with significant damage to the liver and brain. It can cause irreversible brain damage or even death if not treated quickly. Most people with Reye's syndrome are under the age of 20.

Type I Glycogen Storage Disease

Type I glycogen storage disease (GSD I), also known as Von Gierke disease, is an inherited disorder caused by deficiencies of specific enzyme glucose-6-phosphatase (G6Pase ;helps to breaks glycogen to glucose) and transporter enzyme glucose-6-phosphate translocase in the glycogen metabolism pathway, leading to building up of a complex sugar called glycogen in the body's cells.

Unconjugated Hyperbilirubinemia

Unconjugated hyperbilirubinemia is produced by disease conditions that either increase the rate of plasma bilirubin (a by-product of haeme metabolism) synthesis (eg, hemolysis) or decrease the rate of bilirubin conjugation (eg, Gilbert syndrome). About 80% of bilirubin is formed from haemoglobin degradation; the remaining 20% is derived from the breakdown of other haeme proteins such as cytochrome, myoglobin, and tryptophan.

Wilson's disease

Wilson's disease is a rare inherited disorder that causes copper to accumulate in key organs like the liver and brain. The diagnosis of Wilson's illness is most common in those between the ages of 5 and 35, but it can affect younger and older people, as well.

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