Global Liver Institute
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GLOBAL LIVER INSTITUTE
Rare Liver Diseases Month Overview
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Rare Liver Diseases
Global Liver Institute has curated this collection of rare liver disease resources, including basic descriptions, facts, registries, and external organizations that provide detailed information and support.
Acid Sphingomyelinase Deficiency
Acid sphingomyelinase deficiency
(ASMD) is a rare disease with many forms, including Niemann-Pick disease types A and B. ASMD can affect multiple organs, including the liver, lungs, spleen, blood, and digestive system.
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Acute Hepatic Porphyria
Acute hepatic porphyria (AHP)
is a rare genetic and metabolic disease that involves deficiency of a liver enzyme that produces heme. AHP commonly causes painful neural attacks.
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Acute-on-Chronic Liver Failure
Acute-on-chronic liver failure is a
syndrome affecting chronic liver disease patients in which thy experience a sudden, rapid (acute) deterioration of the liver.
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Alagille Syndrome
Alagille syndrome is a rare genetic
condition in which an individual has fewer small bile ducts than normal. Thus, bile accumulates in the liver, resulting in scarring and damage.
- Alagille syndrome occurs in 1 in 30,000 births.
Find support/learn more:
- Alagille Syndrome Alliance
- Alagille Syndrome Rare Disease Registry (available through the Coordination of Rare Diseases at Sanford, CoRDS)
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is an
inherited rare disease in which individuals have low levels of Alpha-1 antitrypsin (AAT) in their blood. AAT is an important protein produced in the liver that protects the lungs, liver & other organs from damage.
- It’s estimated that 120,000 Americans have Alpha-1 Antitrypsin Deficiency, and only 6% have been diagnosed.
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Arginase 1 Deficiency
Arginase-1 Deficiency is a rare genetic
disease in which the liver lacks arginase, an enzyme involved in the urea cycle and responsible for processing nitrogen–which can build up in the form of ammonia.Find support/learn more:
ATTR Amyloidosis
ATTR amyloidosis is a rare disease in
which transthyretin, a protein produced by the liver, becomes unstable and is misfolded. This results in clumping and abnormal accumulation of the protein, causing damage to the heart, nerves, and other organs. Find support/learn more:
Amyloidosis Foundation
Autoimmune Hepatitis
Autoimmune hepatitis (AIH) is an
inflammatory rare liver disease in which the immune system attacks healthy liver cells. AIH is often comorbid with other liver conditions, for instance non-alcoholic fatty liver disease (NAFLD), primary sclerosing cholangitis (PSC), and primary biliary cholangitis (PBC).
- Though the number of new cases per year is 1-2 per 100,000, this incidence rate is slowly increasing.
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Biliary Atresia
Biliary atresia (BA) is a
#rareliverdisease seen only in newborns in which bile ducts are blocked and damaged. Bile buildup causes scarring of the liver, or cirrhosis. The exact cause of BA remains unknown.
- 1 in 15,000-20,000 infants worldwide are diagnosed with Biliary Atresia and have blocked, missing, or scarred bile ducts.
Learn more:
- What is Biliary Atresia (Cincinnati Children’s)
- Biliary Atresia Research & Education (BARE)
Budd-Chiari Syndrome
Budd-Chiari syndrome is a rare
condition that obstructs the veins that carry blood away from the liver. This causes blood and fluids to accumulate in the liver, which can result in other complications.Learn more:
Caroli Disease
Caroli disease (CD) is a rare
genetic disease in which there is abnormal widening of the bile ducts in the liver. This may cause bile duct stones to form, which then obstructs bile flow. CD can result in liver damage or failure.
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Cholangiocarcinoma
Cholangiocarcinoma (CCA) is a cancer
that occurs in the bile ducts in and around the liver. Bile ducts serve as an important part of the digestive system. It can be linked with other rare conditions such as PSC.
- CCA occurs in 1 in 100,000 people and has a poor prognosis for many patients to this day.
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Congenital Hepatic Fibrosis
Congenital hepatic fibrosis (CHF) is a
rare genetic disease that affects the liver. CHF is often associated with diseases that affect the kidneys. CHF can cause an enlarged liver, increased pressure in the veins that carry blood to the liver, and connective tissue growing over and through the liver.
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Cryptogenic Liver Disease
Cryptogenic liver disease is the rare
phenomenon of a liver disease of entirely unknown cause. It is usually detected at the cirrhosis stage of disease. Due to its very nature, it is enormously underserved.
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Cystic Fibrosis
Cystic fibrosis (CF) is a rare, incurable
inherited disease that can affect the liver as well as lungs.
- Only half of CF patients are expected to live beyond 47 years of age.
- CF patients cannot meet each other in person due to bacterial cross-contamination risks.
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Dubin Johnson Syndrome
Individuals with Dubin Johnson
Syndrome (DJS), a rare and benign liver disorder, have a mutation in the protein that transports bilirubin into bile and blood. While DJS doesn’t impede liver function, it can result in a blackened liver.
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Galactosemia
Galactosemia is a rare genetic disease,
where an individual lacks GALT, a liver enzyme responsible for processing and converting galactose. The resulting high levels of galactose can lead to liver failure, enlargement, or scarring.
- Classical Galactosemia is diagnosed in a range of 1 in 16,000-48,000 births globally through newborn screening.
- Clinical variant galactosemia occurs most often in African Americans and Native Africans in South Africa who have the GALT-gene mutation.
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Gilberts Syndrome
Gilberts syndrome is a genetic rare
liver disease in which the liver cannot effectively process and break down bilirubin. It is relatively mild, and most individuals do not experience symptoms.
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Glycogen Storage Disease Type 1B (GSD)
Glycogen Storage Disease Type 1B
(GSD), also known as von Gierke disease, affects the body’s ability to digest stored forms of sugar, called glycogen. The body cannot maintain normal blood sugar levels between meals in GSDIa, resulting in low blood sugar (hypoglycemia). A buildup of glycogen in the liver and kidneys also leads to an enlarged liver (hepatomegaly) and an enlarged kidney (nephromegaly).
Children diagnosed with GSDIa have enlarged livers, and their growth is delayed or stunted. Non-cancerous (benign) tumors in the liver are often seen around the time of puberty.GSDIa can lead to kidney complications such as kidney stones and decreased filtration ability. Rarely, it can also cause cancer. In severe cases, dialysis or transplant may be required. Other potential symptoms include delayed puberty, osteoporosis, gout (joint pain caused by uric acid crystals), but mental function is not impacted.
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Hepatorenal Syndrome
Hepatorenal syndrome (HRS) occurs in
individuals with advanced, chronic liver disease characterized by diminished kidney function. Symptoms include fatigue and abdominal pain.
- HRS is estimated to occur in 8-10% of individuals with ascites (abdominal swelling) and cirrhosis globally.
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Hemochromatosis
Hemochromatosis is a rare disease in
which the body stores and absorbs an excess amount of iron. Iron builds up in different organs, particularly the #liver. Iron overload is extremely toxic and can cause damage to the liver.
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Infantile Liver Failure Syndrome
Infantile Liver Failure Syndrome is
characterized by recurrent episodes of acute liver failure during intercurrent febrile illness.
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Intrahepatic Cholestasis of Pregnancy
Intrahepatic cholestasis of pregnancy
(ICP) is a rare liver condition that occurs during pregnancy. During the third trimester, liver cells are blocked from releasing bile, which then accumulates in the liver and can cause severe itch.
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Lysosomal Acid Lipase Deficiency
Lysosomal Acid Lipase Deficiency
Lysosomal acid lipase deficiency (LALD) is a rare genetic condition in which individuals are unable to produce lysosomal acid lipase, an enzyme that breaks down fats and cholesterol. This causes an accumulation of fats in the body, including the liver. Wolman Disease is the subtype of LALD that affects the liver.
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Peroxisomal Biogenesis Disorder- Zellweger Spectrum Disorder
Peroxisome Biogenesis Disorder-Zellweger
Gilberts Syndrome
Polycystic Liver Disease
Polycystic Liver Disease (PLD) is a rare
disease in which various sized cysts form throughout the liver. This can lead to its swelling, infection, and rupture. The cause of PLD is unknown.
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Preeclampsia
Preeclampsia is a pregnancy
complication characterized by high blood pressure and damage to organs such as the #liver and #kidneys, and it can lead to serious complications for both the mother and the baby if not properly managed.
HELLP syndrome is a rare, life-threatening pregnancy complication that affects the liver, blood, and blood-clotting system. It is often considered a severe form of preeclampsia and is characterized by the presence of Hemolysis (destruction of red blood cells), elevated liver #enzymes, and low platelet count. Early diagnosis and prompt delivery are crucial for both the mother and the baby, as HELLP syndrome can lead to serious complications such as liver failure, stroke, and maternal death if left untreated.
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Primary Biliary Cholangitis
Primary biliary cholangitis (PBC) is a
chronic rare liver disease in which immune cells attack cells of the bile ducts, causing inflammation and damage to the liver. This can result in the accumulation of bile, scarring, and ultimately, liver failure. PBC is currently incurable, but there are treatments available to slow or stop disease progression. Many support and advocacy groups work in PBC.
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Primary Hyperoxaluria (PH1, PH2, PH3)
Primary Hyperoxaluria (PH1, PH2, PH3)
are a group of rare genetic #metabolic disorders that are characterized by the accumulation of a substance known as oxalate in the #kidneys and other organ systems of the body.
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Primary Sclerosing Cholangitis
Primary sclerosing cholangitis (PSC) is
Progressive Familial Intrahepatic Cholestasis
Progressive familial intrahepatic
Mucopolysaccharidoses
Mucopolysaccharidoses are a
collection of metabolic diseases caused by the lack or malfunctioning of enzymes that the body needs to break down certain sugars to help build bone, cartilage, tendons, corneas, and other tissues in the body. Symptoms of mucopolysaccharidosis type 2, for instance, typically appear between the ages of 2 and 4.
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Reye Syndrome
Reye syndrome (also known as
Reye’s Syndrome) is a rare condition that affects children and young adolescents during recovery from viral disease (i.e. flu or chickenpox). Resulting swelling of the brain and liver, as well as high enzyme levels, cause abnormal function.
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Sickle Cell Disease
Individuals with sickle cell disease
(SCD) have sickle-shaped, dysfunctional red blood cells, which cause a blockage in blood flow and lack of oxygen. This inherited rare blood disorder can result in liver failure and disease.
- 1 in 16,300 Hispanic Americans are estimated to have Sickle Cell Disease.
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Urea Cycle Disorders
Urea cycle disorders (UCDs) are
a group of hereditary disorders that cause problems with the removal of waste in the body through urine by disrupting the urea cycle. The liver produces enzymes that change ammonia into urea, which can be removed from the body in urine. In children with UCDs, one of these enzymes is missing or defective, and ammonia builds up in the body.
Learn more:
Collecting data is crucial to understanding rare diseases, thereby informing research and driving innovative solutions. Do your part and contribute to rare liver disease research by participating in a registry.
Rare Disease Patient Registries
- Alpha-1 Research RegistryAutoimmune Research Network (ARNet)
- Autoimmune Registry
- Autosomal Recessive Polycystic Kidney Disease (ARPKD) and Congenital Hepatic Fibrosis (CHF) Patient Registry
- Genetic Testing Registry: Congenital Hepatic Fibrosis
- Fibrolamellar Registry
- IAMRARE™ Registry Program – NORD (National Organization for Rare Disorders)
- Intrahepatic Cholestasis of Pregnancy Patient Registry (ICP Care)
- NIH List of Registries
- NIH RaDaR (Rare Diseases Registry Program)
- Orphanet
- PBC Foundation App & Patient Registry
- PBCers Patient Registry
- PFIC Patient Registry
- PSC Patient Registry
- Registries for Rare Diseases – IQVIA
- Urea Cycle Disorders Consortium Study Opportunities
- Wilson’s Disease Patient Registry
- United States Immunodeficiency Network (USIDNET)
General Rare Disease Information and Support
- American Association for the Study of Liver Diseases
- American Autoimmune & Related Diseases Association Inc
- American College of Gastroenterology (ACG)
- American Gastroenterological Association
- Associazione Malattie Autoimmuni Del Fegato (Amaf Monza Onlus) (Italy)
- Community Liver Alliance
- Digestive Disease National Coalition
- European Reference Network (ERN RARE-LIVER)
- Everylife Foundation for Rare Diseases
- Foundation of the National Lipid Association (FNLA)
- Genetic and Rare Diseases (GARD) Information Center
- Liver Patients International
- National Organization for Rare Diseases (NORD)
- The Assistance Fund (TAF)