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.

Find support/learn more:

• Wylder Nation Foundation
• Understanding ASMD
• Diagnosing Neimann-Pick ASMD

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.

Find support/learn more:

• American Porphyria Foundation
• British Porphyria Foundation
• Pinpoint AHP

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 Rare Disease Registry (available through the Coordination of Rare Diseases at Sanford, CoRDS)

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.

Find support/learn more:

• Alpha-1 Foundation
• AlphaNet
• Alpha-1 Research Registry

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 (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.

Find support/learn more:

• Autoimmune Hepatitis Association
• AIH Support

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 (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.

Learn more:

• Genetic and Rare Diseases Information Center (GARD)

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.

Learn more:

• National Organization for Rare Disorders
• Autosomal Recessive Polycystic Kidney Disease (ARPKD) and Congenital Hepatic Fibrosis (CHF) Patient Registry
• Genetic Testing Registry: Congenital Hepatic Fibrosis

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.

Learn more:

• British Liver Trust

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.

Learn more:

• National Organization for Rare Disorders

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.

Find support/learn more:

• Galactosemia Foundation
• National Organization for Rare Disorders

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.

Learn more:

• National Organization for Rare Disorders

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.

Find support/learn more:

• American Hemochromatosis Society

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.

Find support/learn more:

• LAL-D Aware

Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) leads to malfunctioning peroxisomes, which break down fatty acids and more. This can cause liver damage.

• Severe PBD-ZSD, or Zellweger Syndrome, occurs in 1 in 50,000 people in North America, but 1 in 500,000 in Japan.

Find support/learn more:

• Global Foundation for Peroxisomal Disorders
• Orphanet
• Understanding PBD-ZSD

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.

Find support/learn more:

• PBCers Organization
• PBC Foundation
• Canadian PBC Society
• PBCers Patient Registry
• PBC Foundation App & Patient Registry

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.

Find support/learn more:

• PSC Partners Seeking a Cure
• PSC Support
• Children’s PSC Foundation
• PSC Patient Registry

Mucopolysaccharidoses are a collction 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.

Learn more:

• NIH Fact Sheet
• National Organization for Rare Disorders

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.

Find support/learn more:

• National Reye’s Syndrome Foundation

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.

Learn more:

• National Urea Cycle Disorder Foundation
• Urea Cycle Disorders Consortium
• Mount Sinai
• UPMC Children’s
• Clinical trial opportunities

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.

Find support/learn more:

• Wilson Disease Association
• Patient registry