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Diseases

Genetic and Rare Diseases Information Center (GARD)

Camurati-Engelmann disease


Other Names for this Disease
  • CED
  • Diaphyseal dysplasia 1, progressive
  • DPD1
  • Engelmann disease
  • Progressive diaphyseal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might Camurati-Engelmann disease (CED) be treated?

Several medical therapies including corticosteroids, biphosphonates, and non-steroidal anti-inflammatory drugs (NSAIDs) have been used to manage the symptoms of Camurati-Engelmann disease (CED). NSAIDs and bisphosphonates have not been proven to be effective for most people with CED. Corticosteroids may relieve some of the symptoms such as pain and weakness and can also improve gait and exercise tolerance, however corticosteroids have serious side effects with long term use.[1][2][3][4][5]

More recently, losartan, an angiotensin II type 1 receptor antagonist, has been reported to reduce limb pain and increase muscle strength in multiple case reports.[4][5] However, the effectiveness of losartan needs more study to determine if it is effective for those with CED and without major side effects. Exercise programs when they are tolerated have also been found to be beneficial.[4][5]

Please note, case reports report the clinical findings associated with individual cases. It is important to keep in mind that the clinical findings documented in these case reports are based on specific individuals and may differ from one affected person to another.
Last updated: 3/15/2016

References
  1. Camurati-Engelmann disease. Orphanet. November 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1328.
  2. Stephanie E Wallace, William R Wilcox. Camurati-Engelmann Disease. GeneReviews. March 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1156/.
  3. de Bonilla Damiá Á and García Gómez FJ. Camurati-Engelmann disease. Reumatol Clin. Jan 29, 2016; http://www.ncbi.nlm.nih.gov/pubmed/26830437.
  4. Ayyavoo A, Derraik JG, Cutfield WS, and Hofman PL. Elimination of pain and improvement of exercise capacity in Camurati-Engelmann disease with losartan. J Clin Endocrinol Metab. November 2014; 99(11):3978-82. http://www.ncbi.nlm.nih.gov/pubmed/25140400.
  5. Simsek-Kiper PO, Dikoglu E, Campos-Xavier B, Utine GE, Bonafe L, Unger S, Boduroglu K, and Superti-Furga A. Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: A single case observation. Am J Med Genet Part A. 2014; 9999:2667–2671. http://www.ncbi.nlm.nih.gov/pubmed/25099136.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Camurati-Engelmann disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
Other Names for this Disease
  • CED
  • Diaphyseal dysplasia 1, progressive
  • DPD1
  • Engelmann disease
  • Progressive diaphyseal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.