Rare Ophthalmology News

Advertisement

Disease Profile

Barrett esophagus

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

#N/A

US Estimated

Europe Estimated

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Barrett ulcer; Barrett syndrome; Columnar-like esophagus;

Categories

Digestive Diseases

Summary

Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). The exact underlying cause of Barrett esophagus is not known; however, it generally occurs sporadically in people with no family history of the condition. Treatment varies by the severity of the condition and generally includes medications and life style modifications to ease the symptoms of GERD. Endoscopic or surgical treatments may be recommended in people with severe cases.[1][2]

Symptoms

In people affected by Barrett esophagus, the tissue lining the esophagus (the tube connecting the mouth to the stomach) is replaced by cells that are similar to those found in the lining of the intestines. This change does not cause any specific signs or symptoms. However, Barrett esophagus is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD).[1][2] GERD may be associated with symptoms such as frequent heartburn, difficulty swallowing food, and/or chest pain (less commonly).[3]

People with Barrett esophagus do have a greater risk than the general population of developing esophageal cancer. However, the overall risk is still low as less than 0.5 percent of people with Barrett esophagus develop cancer of the esophagus each year.[2][4]

Cause

The exact underlying cause of Barrett esophagus is unknown. However, certain factors are known to increase the risk of developing the condition. These include:[1][2][5]

Factors that may decrease the risk include having a Helicobacter pylori (H. pylori) infection; frequent use of aspirin or other nonsteroidal anti-inflammatory drugs; and a diet high in fruits, vegetables, and certain vitamins.[5]

Diagnosis

Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD).[2]

Based on the biopsy, a doctor will be able to determine the severity of the condition, which can help inform treatment decisions. The sample may be classified as:[3]

  • No dysplasia a diagnosis of Barrett's esophagus is confirmed, but no precancerous changes are found in the cells
  • Low-grade dysplasia the cells show small signs of precancerous changes
  • High-grade dysplasia the cells show many precancerous changes. This is thought to be the final step before cells change into esophageal cancer

The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the diagnosis of Barret esophagus. Please click on the link to access this resource.

Treatment

The treatment of Barrett esophagus largely depends on the severity of the condition as determined by the level of dysplasia seen on biopsy. In people with no dysplasia or low-grade dysplasia, treatment is often focused on easing the signs and symptoms of gastroesophageal reflux disease (GERD), which can cause further damage to the esophagus. This may include certain medications and lifestyle modifications such as avoiding smoking; eliminating food and drinks that trigger heartburn; raising the head of the bed while sleeping; and/or avoiding late night snacking. Periodic endoscopy may also be recommended to monitor Barrett esophagus as other treatments may be indicated if the condition advances.[2][3]

Because high-grade dysplasia is thought to be the final step before cells change into esophageal cancer, more aggressive treatments are typically recommended. These may include:[2][5][[3]

  • Endoscopic resection an endoscope is used to remove damaged cells
  • Endoscopic ablative therapies different techniques such as photodynamic therapy or radiofrequency ablation are used to destroy the dysplasia in the esophagus. In photodynamic therapy, abnormal cells are destroyed by making them sensitive to light, while radiofrequency ablation uses heat to remove abnormal esophagus tissue.
  • Surgery the damaged part of the esophagus is removed and the remaining portion is attached to the stomach

The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the treatment and management of Barret esophagus. Please click on the link to access this resource.

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • The Mayo Clinic Web site provides further information on Barrett esophagus.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Barrett esophagus. Click on the link to view a sample search on this topic.

          References

          1. Stuart J Spechler, MD. Barrett's esophagus: Epidemiology, clinical manifestations, and diagnosis. UpToDate. December 2014; Accessed 7/9/2015.
          2. Mark H Johnston, MD. Barrett Esophagus. Medscape Reference. April 2014; https://emedicine.medscape.com/article/171002-overview.
          3. Barrett's Esophagus. Mayo Clinic. August 2014; https://www.mayoclinic.org/diseases-conditions/barretts-esophagus/basics/definition/con-20027054?p=1.
          4. Barrett Esophagus. NORD. 2014; https://rarediseases.org/rare-diseases/barrett-esophagus/.
          5. Barrett's Esophagus. National Institute of Diabetes and Digestive and Kidney Diseases. November 2014; https://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/barretts-esophagus/Pages/overview.aspx.
          6. Chak A, Lee T, Kinnard MF, Brock W, Faulx A, Willis J, Cooper GS, Sivak MV Jr, Goddard KA. Familial aggregation of Barrett's oesophagus, oesophageal adenocarcinoma, and oesophagogastric junctional adenocarcinoma in Caucasian adults. Gut. 2002; 51(3):323.
          7. Verbeek RE, Spittuler LF, Peute A, van Oijen MG, Ten Kate FJ, Vermeijden JR, Oberndorff A, van Baal JW, Siersema PD. Familial clustering of Barrett's esophagus and esophageal adenocarcinoma in a European cohort. Clin Gastroenterol Hepatol. October 2014; 12(10):1656-1663.
          8. Orloff M, Peterson C, He X, Ganapathi S, Heald B, Yang YR, Bebek G, Romigh T, Song JH, Wu W, David S, Cheng Y, Meltzer SJ, Eng C. Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma. JAMA. 2011; 306(4):410.

          Rare Ophthalmology News