- Diaphyseal dysplasia 1, progressive
- Engelmann disease
- Progressive diaphyseal dysplasia
Your QuestionMy mother-in-law was recently diagnosed with Camurati-Engelmann disease. Can you provide me with information about this condition?
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Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.
Radiographically (on X-ray), the shafts of long bones show symmetric and progressive widening and malformation (diaphyseal dysplasia). Vascular (Raynaud's phenomenon) and hematological (anemia, leukopenia (low level of white blood cells), increased erythrocyte sedimentation rate) features and hepatosplenomegaly are commonly associated with the disease.
The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence.
Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGFβ-1). The TGFβ-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGFβ-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGFβ-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix).
Within cells, the TGFβ-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGFβ-1 protein that is always turned on (active). Overactive TGFβ-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease.
Some individuals with Camurati-Engelmnan disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.
Individuals with a family history of Camurati-Engelmann disease or symptoms associated with this condition may wish to consult with a genetics professional. Visit the Genetic Resources section to learn how you can locate a genetics professional in your community.
In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.
When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.
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. 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.
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.
- Camurati-Engelmann disease. Genetics Home Reference. April 2008; http://ghr.nlm.nih.gov/condition=camuratiengelmanndisease.
- Camurati-Engelmann disease. Orphanet. November 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1328.
- Stephanie E Wallace, William R Wilcox. Camurati-Engelmann Disease. GeneReviews. March 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1156/.
- Camurati-Engelmann Disease. National Organization for Rare Disorders (NORD). 2007; http://rarediseases.org/rare-diseases/camurati-engelmann-disease/.
- de Bonilla Damiá Á and García Gómez FJ. Camurati-Engelmann disease. Reumatol Clin. Jan 29, 2016; http://www.ncbi.nlm.nih.gov/pubmed/26830437.
- 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.
- 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.