MDR3 Deficiency

Disease Overview

Summary

MDR3 deficiency is a rare genetic disorder that predominantly affects the liver. The disorder includes a spectrum of diseases that can range from mild to severe.

The main symptom is interruption or suppression of the flow of bile from the liver (cholestasis). In addition, affected individuals may be prone to forming gallstones. Cholestasis in MDR3 deficiency occurs due to defects within the liver (intrahepatic), although the defects can also lead to injury of the bile ducts outside the liver (extrahepatic).

Cholestasis can cause yellowing of the skin, mucous membranes and whites of the eyes (jaundice), difficult growing and gaining weight (failure to thrive), growth deficiency, easy bleeding, rickets and persistent itchiness. Symptoms may be present shortly after birth or, in many cases, may not appear until later in childhood or even middle age when the disorder manifests as intrahepatic cholestasis of pregnancy, gallstone disease or jaundice and scarring of the liver (cirrhosis).

MDR3 deficiency is caused by variants in the ABCB4 gene and appears to follow autosomal recessive inheritance in most patients. However, this condition may follow autosomal dominant inheritance in some patients.

Introduction

The terminology used to describe MDR3 deficiency can be confusing because there are several diseases that are caused by different variants in the ABCB4 gene and can result in MDR3 deficiency.

Certain ABCB4 gene variants lead to a complete failure of production of the MDR3 protein and others result in some protein activity, so there is a wide clinical spectrum of severity in MDR3 deficiency. This can range from progressive familial intrahepatic cholestasis type 3 (PFIC-3) in the more severe end, where there is basically a complete MDR3 deficiency, to less severe forms like low phospholipid associated cholelithiasis (LPAC) syndrome or certain cases of intrahepatic cholestasis of pregnancy (ICP), where there are some MDR3 activity.

The medication ursodeoxycholic acid (UDCA) is effective in some patients (especially those with milder disease) and should be part of the initial treatment. Patients with severe cases may require a liver transplant.

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Subdivisions

• low phospholipid associated cholelithiasis
• progressive familial intrahepatic cholestasis type 3 (PFIC3)
• cholestasis of pregnancy

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Signs & Symptoms

The age of onset, severity and specific symptoms of MDR3 deficiency can vary greatly from one person to another. In PFIC3, cholestasis may be present in newborns babies (neonatal period). Individuals with mild forms of this disorder may not develop symptoms until young adulthood or middle age where MDR3 deficiency may manifest as mild abnormalities in liver blood tests, gallstones, jaundice and/or itching during pregnancy, or as scarring of the liver and/or yellowing of the eyes and skin.

The formation of bile is one of the main functions of the liver. Bile is a fluid that contains water, certain minerals that carry an electric charge (electrolytes), lipids (bile salts, phospholipids, cholesterol) and other materials including an orange-yellow pigment (bilirubin) that is a byproduct of the natural breakdown of the hemoglobin of red blood cells. Bile flow accomplishes two important tasks within the body: it aids in digestion and absorption of dietary fats, fat soluble vitamins and other nutrients and it aids in the elimination of excess cholesterol, bilirubin, waste and toxins from the body.

The main signs and symptoms of MDR3 deficiency include:

• Cholestasis (the main characteristic of MDR3 deficiency, usually presenting with episodes during the first few months of life with disease-free periods and eventually becoming a permanent condition and resulting in:
  • Impairment of the ability of the digestive system to properly absorb fat, fat soluble vitamins (Vitamins A, D, E, and K) and other nutrients (malabsorption)
  • Accumulation of toxic materials in the body

The initial symptoms associated with MDR3 deficiency may be:

• Jaundice
• Pale stools
• Increased liver size (hepatomegaly) which is noticeable during the neonatal period rather than at birth (congenital)
• Mild or moderate itching (pruritus) starting at about 9 months of age which can cause irritability and skin abrasions due to constant scratching
• Yellowing of the skin, mucous membranes and whites of the eyes (jaundice) that may be episodic and eventually become permanent
• Abnormally large liver and spleen (hepatosplenomegaly)

Other symptoms may include:

• Diarrhea
• Malabsorption leading to:
  • Difficulty growing and gaining weight (failure to thrive)
  • Growth deficiency
  • Bleeding episodes such as repeated nosebleeds and an abnormal susceptibility to bruising (vitamin K deficiency can lead to severe and even life-threatening problems with bleeding)
  • Rickets due to vitamin D deficiency, a bone disorder with characteristic growth plate abnormalities and progressive softening of the bone structure that can result in a higher risk of fractures

MDR3 deficiency eventually progresses, rapidly or more slowly, ranging from the neonatal period to before adulthood and can cause serious life-threatening complications including:

• High blood pressure of the vein of that carries blood from the intestines to the liver (portal hypertension)
• Scarring of the liver (cirrhosis)
• Liver failure

Additional symptoms that may affect people with MDR3 deficiency include:

• Development of gallstones, also known as cholelithiasis, which can cause obstruction and/or inflammation of the gallbladder (cholecystitis), resulting in cramping pain in the upper abdomen, fever and jaundice
• Intrahepatic gallstone disease (development of stones within the liver itself, which is different than the typical situation where the stones develop in the gallbladder) and is an uncommon problem, but is specific to MDR3 deficiency and may result in:
  • Recurrence of biliary symptoms after a surgery removing the gallbladder (cholecystectomy) because the gallstone disease is intrahepatic, i.e., the bile duct injury is located mostly inside the liver and not in the gallbladder

Blood tests show an increased gamma-GGT, a liver enzyme, abnormal liver function tests and increased bile acids.

Although many cases of MDR3 deficiency occur during infancy or childhood, some people with variants in the ABCB4 gene do not develop symptoms until young adulthood or middle age. For example, some adults may develop jaundice and scarring of the liver (fibrosis or cirrhosis) during middle age. In some cases, the liver disease may look like sclerosing cholangitis, a disease often seen in individuals with inflammatory bowel disease.

Some adults with variants in the ABCB4 gene develop a specific type of cholesterol gallstone disease known as low phospholipid associated cholelithiasis (LPAC). LPAC syndrome symptoms start before age 40 and may include:

• Inflammation of the gallbladder
• Inflammation of the bile ducts
  • Intrahepatic gallstone disease with recurrence of biliary symptoms after cholecystectomy because the gallstone disease is intrahepatic and not in the gallbladder
• Inflammation of the pancreas (pancreatitis)

Some females with variants in the ABCB4 gene may develop a condition known as intrahepatic cholestasis of pregnancy (ICP). This condition is characterized by symptoms that develop during pregnancy, usually the third trimester:

• Cholestasis
• Itching
• Jaundice

These symptoms resolve without treatment (spontaneously) after the pregnancy (postpartum). Generally, females who develop ICP do not have symptoms before pregnancy and do not develop chronic liver damage.

It is important to note that individuals with MDR3 deficiency might have different health problems during their life due to the various MDR3 deficiency diseases.

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Causes

MDR3 deficiency occurs due to changes called disease-causing variants in the ABCB4 gene.

The ABCB4 gene creates (encodes) a protein known as multidrug resistance protein 3 (MDR3). Variants in the ABCB4 gene result in absence or low level of functional MDR3 enzyme leading to decreased level of phospholipids in bile and an abnormality in bile ducts. Individuals with no residual enzyme activity have severe forms of MDR3 deficiency. Individuals with mild forms of the MDR3 deficiency have varying degrees of enzyme activity and of subsequent phospholipid concentrations in bile. In all untreated patients with MDR3 deficiency, serum GGT activity is elevated.

In most patients, MDR3 deficiency is inherited in an autosomal recessive pattern.

Recessive genetic disorders occur when an individual inherits a disease-causing gene variant from each parent. If an individual receives one normal gene and one gene variant for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the gene variant and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

In some cases, MDR3 related disease occurs in individuals with only one ABCB4 gene variant and follows autosomal dominant inheritance.

Dominant genetic disorders occur when only a single copy of a disease-causing gene variant is necessary to cause the disease. The gene variant can be inherited from either parent or can be the result of a changed gene in the affected individual. The risk of passing the gene variant from an affected parent to a child is 50% for each pregnancy. The risk is the same for males and females.

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Affected populations

MDR3 deficiency affects males and females in equal numbers. The exact incidence and prevalence of MDR3 deficiency is unknown. Fewer than 500 cases of PFIC3 have been reported in the medical literature. Because milder forms of MDR3 deficiency often go unrecognized or misdiagnosed, it is difficult to determine the disorder’s true frequency in the general population.

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Disorders with Similar Symptoms

Symptoms of the following disorders can be similar to those of MDR3 deficiency. Comparisons may be useful for a differential diagnosis.

Extrahepatic causes of cholestasis are ruled out by liver ultrasonography or magnetic resonance cholangiography.

Biliary atresia is a rare gastrointestinal disorder characterized by destruction or rarely, absence of all or a portion of the extrahepatic bile duct. The bile duct is a tube that allows the passage of bile from the liver into the gallbladder and eventually, the small intestine. In biliary atresia, destruction of the bile ducts results in the abnormal accumulation of bile in the liver. Affected newborns have yellowing of the skin and whites of the eyes (jaundice), pale, gray stools and abnormal enlargement of the liver (hepatomegaly).

Eventually, infants develop additional symptoms such as itching and scarring of the liver (cirrhosis). In some patients, anatomical abnormalities of the spleen may be present or the spleen may be missing. The exact cause of biliary atresia is unknown. Biliary atresia is a form of cholestasis where GGT is high, like in MDR3 disease and many other forms of cholestasis. (For more information on this disorder, choose “biliary atresia” as your search term in the Rare Disease Database.)

Metabolic disorders are a group of disorders in which certain enzymes required to “metabolize” or breakdown various substances in the body (e.g., carbohydrates, proteins, fats) are missing or reduced. Many of these enzymes are crucial in the production of energy. Absence or deficiency of critical enzymes causes substances to build up in the body potentially damaging various organs. Various metabolic diseases are associated with liver dysfunction similar to that found in MDR3 deficiency. In addition, other genetic disorders like alpha-1-antitrypsin deficiency and cystic fibrosis may be similar to MDR3 deficiency. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)

Several rare disorders may involve the liver, causing signs and symptoms that are similar to those found in MDR3 deficiency. These disorders include sclerosing cholangitis and Alagille syndrome. They generally have additional signs and symptoms that can distinguish them from MDR3 deficiency. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)

Wilson disease is a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver, brain and corneas of the eyes. The disease is progressive and, if left untreated may cause liver (hepatic) disease, central nervous system dysfunction and death. Early diagnosis and treatment may prevent serious long-term disability and life-threatening complications. Treatment is aimed at reducing the amount of copper that has accumulated in the body and maintaining normal copper levels thereafter. Copper is excreted in bile and as such can accumulate in the liver of individuals with MDR3 deficiency and in some people MDR3 deficiency has been misdiagnosed as Wilson Disease. (For more information on these disorders, choose “as your search term in the Rare Disease Database.)

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Diagnosis

A diagnosis of MDR3 deficiency should be suspected in infants and children with evidence of cholestasis and/or chronic liver disease when the gamma-GGT levels in the blood are elevated. A diagnosis may be made based upon a thorough clinical evaluation, a detailed patient history and a variety of tests.

Tests used to help diagnose MDR3 deficiency include measuring levels of bilirubin, bile salts, and gamma-glutamyltransferase (GGT) in the blood.

Microscopic examination of liver tissue (biopsy) and MDR3 immunostaining may be performed to aid in diagnosis and to detect the presence of cirrhosis.

Endoscopic retrograde cholangiopancreatography (ERCP) is an endoscopic procedure used to identify the presence of stones, tumors or narrowing in the biliary and pancreatic ducts. If bile can be collected during ERCP or surgery, a biliary lipid analysis could be performed. The decrease in biliary phospholipid supports the diagnosis and the level of the residual concentration is potentially helpful for prognosis.

Molecular genetic testing for variants in the ABCB4 gene is available on a clinical basis and can confirm the diagnosis.

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Standard Therapies

Treatment
The drug ursodeoxycholic acid (UDCA) is effective in some patients (especially those with milder disease) and should be part of the initial treatment options for affected individuals. Restoring vitamins and nutrients lost through malabsorption may also be necessary. At a minimum, fat-soluble vitamin level should be monitored to identify deficiency in affected individuals.

Other treatments are directed toward the specific symptoms (e.g. itching) or complications (e.g. cirrhosis, gallbladder stone disease) that are apparent in each individual. Treatment options include surgery to remove the gallbladder, but this may not be completely effective due to the on-going risk of stone formation within the liver.

Surgical procedures aiming at the interruption of the intestinal and liver (enterohepatic) circulation of bile acids can be an effective treatment in children with PFIC. These procedures can help with itching, normalize serum markers of liver disease and prevent progression of liver disease. The most used surgical procedure for PFIC is partial external biliary diversion. This procedure involves using a small segment of the intestine to form a tube between the gallbladder and abdominal wall and drain the bile to the outside of the body.

Some individuals do not respond to UDCA therapy and may require a liver transplant. Nearly all affected individuals who have undergone liver transplantation have had dramatic improvement of symptoms. However, a liver transplantation carries risk and may result in post-operative complications. Also, after a liver transplant, affected individuals typically are required to take medication life-long for immunosuppression.

Genetic counseling is recommended for affected individuals and their families.

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Clinical Trials and Studies

In the future, cell, gene or targeted variant-specific drug therapies might be useful tools for the management of patients with PFIC3.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov . All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

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References

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Gonzales E, Spraul A, Jacquemin E. Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3. Eur J Hum Genet. 2014;22(4):. doi:10.1038/ejhg.2013.188

Gautherot J, Durand-Schneider AM, Delautier D, Delaunay JL, Rada A, Gabillet J, Housset C, Maurice M, Aït-Slimane T. Effects of cellular, chemical, and pharmacological chaperones on the rescue of a trafficking-defective mutant of the ATP-binding cassette transporter proteins ABCB1/ABCB4. J Biol Chem. 2012 Feb 10;287(7):5070-8. https://www.ncbi.nlm.nih.gov/pubmed/22184139

Gonzales E, Jacquemin E. Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future? J Hepatol. 2010 Aug;53(2):385-7. https://www.sciencedirect.com/science/article/pii/S016882781000379X

Jung C, Driancourt C, Baussan C, Zater M, Hadchouel M, Meunier-Rotival M, Guiochon-Mantel A, Jacquemin E. Prenatal molecular diagnosis of inherited cholestatic diseases. J Pediatr Gastroenterol Nutr. 2007 Apr;44(4):453-8. https://www.ncbi.nlm.nih.gov/pubmed/17414143

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Jacquemin E, De Vree JM, Cresteil D, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology. 2001;120:1448-1458. https://www.ncbi.nlm.nih.gov/pubmed/11313315

de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci U S A 1998;95:282-287. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC18201/pdf/pq000282.pdf

INTERNET
Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive Familial Intrahepatic Cholestasis. Orphanet, May 2011. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=172#:~:text=Progressive%20familial%20intrahepatic%20cholestasis%20(PFIC,with%20cholestasis%20of%20hepatocellular%20origin. Accessed Feb 15, 2024.

Wehrman AJ and Kennedy M. Progressive Familial Intrahepatic Cholestasis. Medscape, Last Update:Oct 4, 2021.Available at: https://emedicine.medscape.com/article/932794-overview Accessed Feb 15, 2024.

PFIC3. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:602347; Last Update: 12/07/2012. Available at: https://www.ncbi.nlm.nih.gov/omim/602347 Accessed Feb 15, 2024.

Progressive Familial Intrahepatic Cholestasis. Childhood Liver Disease Research Network. https://childrennetwork.org/For-Physicians/Progressive-Familial-Intrahepatic-Cholestasis-Information-for-Physicians Accessed Feb 14, 2024.

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