Autoimmune Thyroiditis

Autoimmune Thyroiditis

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Autoimmune Thyroiditis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Hashimoto's thyroiditis
  • Hashimoto's disease
  • Lymphadenoid goiter
  • Struma lymphomatosa
  • Goitrous autoimmune thyroiditis
  • Chronic Thyroiditis
  • Hashimoto's syndrome
  • Grave's disease
  • Postpartum thyroiditis

Disorder Subdivisions

  • None

General Discussion

Autoimmune thyroiditis (AT), also known as Hashimoto's disease, is a chronic inflammatory disorder of the thyroid gland that is caused by abnormal blood antibodies and white blood cells that mistakenly attack and damage healthy thyroid cells. It is a progressive disease that may destroy the thyroid gland, causing thyroid hormone deficiency (hypothyroidism). Autoimmune thyroiditis presents with various combinations of symptoms, making diagnosis difficult. This disease can occur at any age, but is most often seen in middle-aged women. In rare cases, it may be associated with other autoimmune endocrine disorders.

Symptoms

Autoimmune thyroiditis is a common cause of primary hypothyroidism. Affected individuals complain of enlargement of the thyroid gland or fullness in the throat. It causes a non-tender lump (goiter). This abnormal lump on the front of the neck is smooth or nodular, firm and more rubbery in consistency than the normal thyroid. In 90% of cases, it is painless. Thyroid function blood studies initially fall within the normal limits, until the disease has progressed sufficiently to cause the lack of thyroid hormone. It may take months or even years for the disorder to be detected.



Some people don't exhibit any symptoms at all. Others may experience various combinations of intolerance to cold, mild weight gain, fatigue, constipation, presence of a goiter, dry skin, hair loss, irregular or heavy menstrual periods, a small or shrunken thyroid gland (late stage) and difficulty in concentrating or thinking.

Causes

AT is an autoimmune disorder caused by infiltration of the thyroid gland with lymphocytes (white blood cells), resulting in the progressive destruction of the thyroid gland and eventually causing hypothyroidism. Autoimmune diseases begin when the body's natural defenses against disease, such as antibodies, lymphocytes, etc., attack healthy tissue for unknown reasons.



There is a genetic predisposition to develop autoimmune thyroiditis. It occurs more often among people who have a family history of the disease. Mutations in two genes on chromosome 8 and chromosome 2 (8q23-q24 and 2q33) appear to be necessary to establish the tendency for genetic transmission of the disorder.



Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 8q23-q24" refers to a region on the long arm of chromosome 8 between bands 23 and 24. The phrase "chromosome 2q33" refers to band 33 on the long arm of chromosome 2. The numbered bands specify the location of the thousands of genes that are present on each chromosome.



Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.



Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.



Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene 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 defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have 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 and be genetically normal for that particular trait is 25%. The risk is the same for males and females.



All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Affected Populations

Autoimmune thyroiditis can occur in men and women at any age, but is most frequently seen in women between the ages of 30 and 50. A family history of thyroid disorders is common. The incidence is increased in patients with chromosomal disorders including Turner's, Down's and Klinefelter's syndromes. (For more information about these disorders, choose "Turner", "Down" and "Klinefelter" as your search terms in the Rare Disease Database.)

Standard Therapies

Diagnosis

Autoimmune thyroiditis is diagnosed in most cases by means of blood tests that measure the amount of various thyroid hormones in the patient's blood. One of these hormones is thyroxine (T4), the level of which may be elevated in persons with this disorder. Thyroxine is a precursor of T3, an active form of thyroid hormone. The blood levels of each of these hormones are regulated by the amount of thyroid stimulating hormone. Accurate tests are available to measure the concentrations of each.



In some cases, a biopsy of the thyroid gland may be necessary for a definitive diagnosis.



Treatment

Treatment of autoimmune thyroiditis consists of replacing thyroid hormone in the body. This will alleviate the symptoms and produce a marked reduction in the gland size within 2 to 4 weeks. Once thyroid hormone has been started, it should be continued for life, since it is unlikely that the disease will regress spontaneously.

Investigational Therapies

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:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Rose NR. Caturegli P. Chronic Lymphocytic Thyroiditis. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:329.



Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:84-85; 97-98.



Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:953-54.



Scriver CR, Beaudet AL, Sly WS, et al., eds. The Metabolic Molecular Basis of Inherited Disease. 8th ed. McGraw-Hill Companies. New York, NY; 2001:4063.



REVIEW ARTICLES

Fatourechi V. Hashimoto's encephalopathy: myth or reality? An endocrinologist's perspective. Best Pract Res Clin Endocrinol Metab. 2005;19:53-66.



Weetman AP. Cellular immune responses in autoimmune thyroid disease. Clin Endocrinol. (Oxf). 2004;61:405;13.



Mclachlan SM, Rapoport B. Why measure thyroglobulin autoantibodies rather than thyroid peroxidase autoantibodies? Thyroid. 2004;14:510-20.



Punzi L. Betterle C. Chronic immune thyroiditis and rheumatic manifestations. Joint Bone Spine. 2004;71:510-20.



Tomer Y, Greenberg D. The thyroglobulin gene as the first thyroid-specific susceptibility gene for autoimmune thyroid disease. Trends Mol Med. 2004;10:306-08.



Laurent S, Mouthon L, Longchampt E, Roudaire M, et al. Medical care of plasma cell granuloma of the thyroid associated with Hashimoto's thyroiditis: a case report and review. J Clin Endocrinol Metab. 2004;89:1534-37.



Roberts CG, Ladenson PW. Hypothyroidism. Lancet. 204;363:793-803.



Carayanniotis G. The cryptic self in thyroid autoimmunity: the paradigm of thyroglobulin. Autoimmunity. 2003;36:423-28.



Ban Y, Tomer Y. The contribution of Immune regulatory and thyroid specific genes to the etiology of Graves' and Hashimoto's diseases. Autoimmunity. 2003;36:367-79.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Hashimoto Thyroiditis. Entry Number; 140300: Last Edit Date; 3/15/2005.



Rennert NJ. Chronic thyroiditis (Hashimoto's disease). MedlinePlus. Medical Encyclopedia. Update Date: 4/19/2004.

www.nlm.nih.gov/medlineplus/ency/article/000371.htm



Hashimoto's Thyroiditis. Womenshealth.gov. DHHS. Publication Date: March 2001. 3pp.

www.womenshealth.gov/faq/hashimoto.htm



Hashimoto's Thyroiditis. American Autoimmune Related Diseases Association. Patient Information. nd. 2pp.

www.aarda.org/patient_information.php



Thyroiditis. Thyroid Foundation of Canada. Reviewed 09/01. 4pp.

www.thyroid.ca/HG05.html



About Hashimoto's Disease. Rutgers School of Communication, Information and Library Studies. Last updated Dec 13, 1998. 3pp.

www.scils.rutgers.edu/~mowalker/hashimo2.html

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



Hypoparathyroidism Association, Inc.

PO Box 2258

Idaho Falls, ID 83403

Tel: (866)213-0394

Fax: (205)524-3857

Tel: (866)213-0394

Email: hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org

Internet: http://www.hypopara.org



American Autoimmune Related Diseases Association, Inc.

22100 Gratiot Ave.

Eastpointe, MI 48021

Tel: (586)776-3900

Fax: (586)776-3903

Tel: (800)598-4668

Email: aarda@aarda.org

Internet: http://www.aarda.org/



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



Thyroid Foundation of Canada

263 MCG Building

Labrosse Ave

Pointe-Claire

QC, H9R 1A3

Canada

Fax: 5146309815

Tel: 8002678822

Internet: http://www.thyroid.ca



American Thyroid Association

6066 Leesburg Pike, Suite 550

Falls Church, VA 22041

USA

Tel: (703)998-8890

Fax: (703)998-8893

Email: thyroid@thyroid.org

Internet: http://www.thyroid.org



Hormone Health Network

8401 Connecticut Avenue

Suite 900

Chevy Chase, MD 20815-5817

Fax: (310)941-0259

Tel: (800)467-6663

Email: hormone@endo-society.org

Internet: http://www.hormone.org/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Autoimmune Information Network, Inc.

PO Box 4121

Brick, NJ 08723

Fax: (732)543-7285

Email: autoimmunehelp@aol.com



International Scleroderma Network

7455 France Ave So #266

Edina, MN 55435-4702

Tel: (952)583-5735

Tel: (800)564-7099

Email: isn@sclero.org

Internet: http://www.sclero.org



European Society for Immunodeficiencies

1-3 rue de Chantepoulet

Geneva, CH 1211

Switzerland

Tel: 410229080484

Fax: 41229069140

Email: esid@kenes.com

Internet: http://www.esid.org



AutoImmunity Community

Email: moderator@autoimmunitycommunity.org

Internet: http://www.autoimmunitycommunity.org



For a Complete Report

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