What are the other Names for this Condition? (Also known as/Synonyms)

• Camurati-Engelmann Syndrome
• Osteopathia Hyperostotica Scleroticans
• Progressive Diaphyseal Dysplasia

What is Camurati-Engelmann Disease? (Definition/Background Information)

• Camurati-Engelmann Disease (CED) is a rare, genetic disorder of the bones. It generally affects the long bones of the arms,  legs, skull, and hip
• The condition is characterized by thickened bones, which cause severe pain in the arms and legs, wobbly walk, weakness of the muscles , severe tiredness, neurological problems, deformities of the joints, and scoliosis
• Camurati-Engelmann Disease is caused by mutations in transforming growth factor beta-1 (TGFB1) gene. It is inherited in an autosomal dominant pattern in which one copy of the affected gene is sufficient to cause the abnormality
• The various forms of Camurati-Engelmann Disease include:
  • Type 1 associated with TGFB1
  • Type 2 not associated with TGFB1
• This disorder is treated with steroids and alternative therapy methods that include massage and relaxation techniques. The prognosis is generally good with appropriate treatment
• Presently, Camurati-Engelmann Disease cannot be effectively prevented

Who gets Camurati-Engelmann Disease? (Age and Sex Distribution)

• Camurati-Engelmann Disease is an inherited genetic disorder. However, the age at which individuals acquire this condition and exhibit the signs and symptoms vary
• Typically, the onset of CED occurs before the child is 10 years old, but the disorder expresses itself only when he/she reaches the age of 30 years
• Generally those in the adolescent stage are affected the most by the symptoms of Camurati-Engelmann Disease
• This disorder affects both men and women

What are the Risk Factors for Camurati-Engelmann Disease? (Predisposing Factors)

The risk factors associated with Camurati-Engelmann Disease include:

• CED is inherited in an autosomal dominant pattern, which means that one copy of the damaged gene is sufficient to cause the disorder
• Family history: When close relatives in the family have already been affected by this disorder, the unaffected family members may have a higher risk

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Camurati-Engelmann Disease? (Etiology)

Camurati-Engelmann Disease (CED) is an inherited genetic disorder.

• Alterations and changes that occur in the TGFB1 gene cause CED
• It is inherited as an autosomal dominant trait
• Widening and malformation of the shafts of the long bone, which is progressive in nature, is the predominant feature of this disorder

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Camurati-Engelmann Disease?

The following are the common signs and symptoms exhibited by individuals with Camurati-Engelmann Disease:

• Increased bone thickness
• Pain in the arms and legs
• Waddling gait
• Weakness of the muscles, decreased muscle mass
• Severe tiredness and fatigue
• Neurological signs and symptoms that include:
  • Headaches
  • Hearing loss
  • Vision difficulties     
  • Dizziness
  • Ringing sound in the ears
  • Paralysis of the face
• Scoliosis: Sideways curving of the backbone or spine
  • Deformities of the joints
  • Knock knees, flatfeet
  • Abnormal long limbs that are disproportionate to one’s height
  • Delayed puberty

How is Camurati-Engelmann Disease Diagnosed?

The diagnosis of Camurati-Engelmann Disease may involve the following modalities:

• The condition is diagnosed generally based on physical examination
• Evaluation of medical history (including family history)
• Radiographic findings of the affected bones are also helpful
• Molecular genetic testing of the TGFB1 gene can help confirm the condition

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Camurati-Engelmann Disease?

Camurati-Engelmann Disease may lead to the following complications, namely:

• Optic nerve compression: Compression of the nerve caused by stenosis of the optic nerve canal in the skull
• Hyperostosis: A medical condition that is characterized by excessive bone growth
• Tall stature: The bones of the legs may be extremely long, which gives the individuals a long stature
• Hypopituitarism: Decreased level of secretion of the hormones produced by the pituitary glands

How is Camurati-Engelmann Disease Treated?

The treatment of Camurati-Engelmann Disease may include:

• Use of anti-inflammatory and immune suppressive agents such as gluco-corticosteroids with the aim to:
  • Increase bone strength
  • Decrease pain and fatigue
  • Correct bony abnormalities
• Alternative treatment methods may include relaxation techniques such as:
  • Massage therapy
  • Meditation therapy
  • Oil and spa baths
  • Music therapy
  • Gentle stretching
  • Heat therapy
• Pain may be also be treated with the use of:
  • Analgesics
  • Muscle relaxants
  • Sleep inducing medicines

How can Camurati-Engelmann Disease be Prevented?

• Currently, there are no specific methods or guidelines to prevent Camurati-Engelmann Disease, since it is a genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Camurati-Engelmann Disease? (Outcomes/Resolutions)

The prognosis of Camurati-Engelmann disease is generally good with appropriate treatment.

Additional and Relevant Useful Information for Camurati-Engelmann Disease:

There are many disease-specific support organizations that are engaged in helping people and their families suffering from Camurati-Engelmann Disease.

• About-face international
• American Society for deaf Children
• National association for the deaf