Rare Endocrinology News

Disease Profile

Hashimoto’s syndrome

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.

Unknown

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)

Autoimmune thyroiditis; Hashimoto's disease; Thyroiditis, chronic;

Categories

Autoimmune / Autoinflammatory diseases; Immune System Diseases

Summary

Hashimoto’s syndrome is an autoimmune disease in which a person's immune system mistakenly attacks the thyroid gland, reducing its ability to produce hormones (hypothyroidism). Many people with Hashimoto’s syndrome have no symptoms at first.[1][2] An early sign of the syndrome may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing. Other signs and symptoms may include tiredness, weight gain, thin and dry hair, joint or muscle pain, constipation, cold intolerance, and/or a slowed heart rate. Women with Hashimoto's syndrome may have irregular menstrual periods or difficulty becoming pregnant. Hashimoto’s syndrome is the most common cause of hypothyroidism in the United States. It is more common in women than in men, and it usually appears in mid-adulthood. Like most autoimmune diseases, Hashimoto's syndrome is thought to result from a combination of genetic and environmental factors. Treatment is not always needed, but may include taking synthetic thyroid hormone.[1][2][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autoimmune antibody positivity
0030057
Autosomal dominant inheritance
0000006
Hashimoto thyroiditis
0000872

Cause

Hashimoto's syndrome is an autoimmune disorder thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. People with Hashimoto’s syndrome have antibodies to various thyroid antigens. The antibodies mistakenly "attack" the thyroid, resulting in damage to the gland.[1][2]

Several genes appear to be possible risk factors for Hashimoto syndrome, such as the gene family called the human leukocyte antigen (HLA) complex, which helps the immune system distinguish the body's own proteins from proteins made by viruses and bacteria or other agents. It is also more common in people who have other family members with the disease. However, the genetic factors have only a small effect on a person's overall risk of developing this syndrome. Non-genetic factors that may trigger the syndrome in people at risk may include changes in sex hormones (particularly in women), viral infections, high cholesterol, vitamin D deficiency, certain medications, exposure to ionizing radiation, and excess consumption of iodine (a substance involved in thyroid hormone production).[2][3]

Hashimoto’s syndrome is much more frequent in women than men, especially between the ages of 40 and 60 years old.[1]

Hashimoto’s syndrome is associated with other autoimmune diseases, including connective tissue diseases, joint diseases (such as autoimmune types of arthritis), pernicious anemia, adrenal insufficiency, celiac disease, and type 1 diabetes mellitus. Also, people with autoimmune diseases seem to have a higher risk of developing Hashimoto's syndrome.[2]

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

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • MedlinePlus Genetics contains information on Hashimoto's syndrome. This website is maintained by the National Library of Medicine.
      • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
      • The National Endocrine and Metabolic Diseases Information Service, a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), provides information on this topic. Click on the link to view the information on this topic.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Merck Manual for health care professionals provides information on Hashimoto's syndrome.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Hashimoto's syndrome. Click on the link to view a sample search on this topic.

          References

          1. Hashimoto's Disease. National Endocrine and Metabolic Diseases Information Service. 2017; https://www.niddk.nih.gov/health-information/health-topics/endocrine/hashimotos-disease/Pages/fact-sheet.aspx.
          2. Lee SL. Hashimoto Thyroiditis. Medscape Reference. 2017; https://emedicine.medscape.com/article/120937-overview.
          3. Hashimoto thyroiditis. Genetics Home Reference. July, 2013; https://ghr.nlm.nih.gov/condition/hashimoto-thyroiditis.

          Rare Endocrinology News