Global Liver Institute

Pediatric and Rare Liver Diseases Resources

GLOBAL LIVER INSTITUTE

Pediatric and Rare Liver Diseases Resources
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Liver Health

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Fatty Liver Disease

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Pediatric and Rare Liver Diseases

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Liver Cancers

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Equity

The Provider Perspective on Patient Access
Patient Advocacy in Rare Liver Disease
Parents & Partners
Maternal and Neonatal Care in Italy and Cameroon
Parenthood in Rare Liver Disease
Driven to Fight Inequality in Maternal and Neonatal Care
The Rare Odyssey in Pregnancy
Alagille Syndrome
Lysosomal Acid Lipase Deficiency (LAL-D)
Newborn Screening Policy & Advocacy in Rare Liver Diseases
Pediatric Rare Liver Disease
Primary Sclerosing Cholangitis (PSC)
Primary Biliary Cholangitis (PBC)
Racial Disparities in Rare Liver Disease Research
Rare Liver Cancers

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.

Beyond The Biopsy White Icon

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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Hepatitis

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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Liver Cancer

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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Revision

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.

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Liver Cancer (1)

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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Hepatitis A

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:

Liver

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

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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Gallbladder

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.

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Budd Chiari Syndrome

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:

National Organization for Rare Disorders

Caroli Disease

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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Cholangio

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

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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Cirrhosis

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

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

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

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

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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Beyond The Biopsy White Icon

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

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

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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Caroli Disease

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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Pregnant

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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Lysosome

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

Peroxisomal Biogenesis Disorder- Zellweger Spectrum Disorder

Peroxisome Biogenesis Disorder-Zellweger
Gilberts Syndrome

Gilberts Syndrome

Polycystic

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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Diseases

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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Beyond The Biopsy White Icon

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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Hepatitis

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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Caroli Disease

Primary Sclerosing Cholangitis

Primary sclerosing cholangitis (PSC) is

a rare, progressive liver disease in which inflammation and scarring occurs in the tissues of bile ducts. PSC can affect the bile flow in the liver, which can lead to cirrhosis in some cases. Currently, PSC is an incurable condition with a heavy symptom burden.
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Hepatitis

Progressive Familial Intrahepatic Cholestasis

Progressive familial intrahepatic

cholestasis (PFIC) is a group of conditions in which the liver cannot process bile properly, which can lead to jaundice, severe itch, and liver swelling.

  • PFIC affects 1 in 50,000-100,000 births worldwide.
  • About 75% of PFIC type 2 patients develop fibrosis by age 2.

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Metabolism

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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Smallpox

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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Cancer

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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Stomach

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.

  • UCDs occur in 1 in 30,000 newborns worldwide.

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Diseases

Wilson’s Disease

Wilson’s (Wilson) disease is a rare

inherited disease, in which copper is not sent out as bile in the liver. This prevents an individual from disposing of copper from the body. This buildup of copper results in liver damage and failure.
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