What is the life expectancy of someone with Camurati-Engelmann disease?

Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder that affects the bones and muscles. It was first described by two physicians, Camurati and Engelmann, in the early 20th century. CED is characterized by progressive thickening of the long bones, particularly in the diaphysis (the shaft of the bone), leading to various skeletal abnormalities and associated symptoms.

The life expectancy of individuals with Camurati-Engelmann disease can vary widely depending on several factors, including the severity of the disease, the age of onset, and the specific complications that arise. It is important to note that CED is a progressive condition, meaning that symptoms tend to worsen over time.

On average, individuals with CED have a normal life expectancy. However, some cases may experience a shortened lifespan due to complications associated with the disease. These complications can include:

• Severe bone pain: Many individuals with CED experience chronic and debilitating bone pain, which can significantly impact their quality of life.


• Muscle weakness: The thickening of bones in CED can also affect the surrounding muscles, leading to muscle weakness and decreased mobility.


• Joint stiffness: Stiffness and limited range of motion in the joints are common in CED, making everyday activities challenging.


• Progressive skeletal abnormalities: The excessive bone growth in CED can cause various skeletal abnormalities, such as bowing of the long bones, scoliosis, and joint deformities.


• Vision and hearing problems: In some cases, CED can affect the eyes and ears, leading to vision and hearing impairments.


• Neurological complications: Rarely, individuals with CED may experience neurological symptoms, including headaches, seizures, and cognitive impairments.

It is important for individuals with CED to receive appropriate medical management and support to address these complications and improve their overall well-being.

Early diagnosis and intervention are crucial in managing the symptoms and preventing potential complications associated with CED. Treatment options for CED are limited, and management primarily focuses on alleviating pain, improving mobility, and addressing specific complications as they arise.

Regular monitoring by a multidisciplinary medical team consisting of orthopedic specialists, geneticists, physiotherapists, and other healthcare professionals is essential to provide comprehensive care for individuals with CED.

In conclusion, the life expectancy of individuals with Camurati-Engelmann disease can vary depending on the severity of the disease and associated complications. While the average life expectancy is normal, some cases may experience a shortened lifespan due to the impact of symptoms and complications. Early diagnosis, appropriate medical management, and ongoing support are crucial in improving the quality of life for individuals with CED.