Which are the symptoms of Hereditary multiple exostoses?

See the worst symptoms of affected by Hereditary multiple exostoses here

Symptoms of Hereditary Multiple Exostoses

Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas, is a rare genetic disorder characterized by the development of multiple benign bone tumors called osteochondromas. These tumors typically grow near the growth plates of long bones, such as the femur, tibia, and humerus, but can also occur in other bones throughout the body. HME is an autosomal dominant condition, meaning it can be inherited from a parent who carries the mutated gene.

The symptoms of Hereditary Multiple Exostoses can vary widely among affected individuals. Some individuals may only have a few osteochondromas, while others may have numerous tumors. The severity of symptoms can also differ, even within the same family. The most common signs and symptoms of HME include:

Multiple Bone Tumors: The hallmark feature of HME is the presence of multiple osteochondromas. These tumors are typically located near the ends of long bones, particularly around the knee, elbow, and shoulder joints. Osteochondromas can cause bone deformities, growth disturbances, and functional impairments. The number, size, and location of these tumors can vary greatly among individuals.

Joint Pain and Stiffness: Osteochondromas can lead to joint pain and stiffness, especially when they impinge on nearby structures or cause pressure on nerves, tendons, or blood vessels. This can result in limited range of motion, difficulty in performing certain activities, and discomfort during physical exertion.

Short Stature: In some cases, HME can cause short stature or disproportionate limb lengths. The presence of osteochondromas near the growth plates can disrupt normal bone growth, leading to skeletal abnormalities and reduced height.

Limb Deformities: As osteochondromas grow, they can cause bone deformities, such as bowing or twisting of the affected limb. These deformities can affect the alignment and function of joints, leading to gait abnormalities and difficulties in performing daily activities.

Impaired Joint Function: Osteochondromas can interfere with joint function, causing mechanical problems such as joint instability, recurrent dislocations, or restricted movement. This can result in joint pain, muscle weakness, and reduced mobility.

Neurovascular Complications: In rare cases, osteochondromas may compress nearby nerves or blood vessels, leading to neurological or vascular complications. This can cause symptoms such as numbness, tingling, weakness, or impaired blood flow to the affected area.

Spinal Abnormalities: In some individuals with HME, osteochondromas can develop in the spine. This can lead to spinal deformities, such as scoliosis (abnormal sideways curvature of the spine) or kyphosis (excessive forward curvature of the upper spine). Spinal tumors can also compress the spinal cord or nerve roots, resulting in neurological symptoms.

Increased Risk of Malignant Transformation: Although rare, there is a small risk of osteochondromas transforming into malignant tumors, such as chondrosarcoma. Regular monitoring and surveillance are important to detect any signs of malignant transformation.

It is important to note that the symptoms and complications of Hereditary Multiple Exostoses can vary greatly among individuals. Some individuals may experience mild symptoms and lead relatively normal lives, while others may have more severe manifestations that significantly impact their quality of life. Early diagnosis, regular monitoring, and appropriate management are crucial in minimizing the impact of HME on an individual's health and well-being.

Diseasemaps

Posted Sep 12, 2017 by Helmina Batubara 700

Bony lumps appear in the growth zones of the long bones. These growths vary in size and number among affected individuals, even within the same family. Some individuals will present with a few large “lumps” while others will show several small growths.

In my father's family with six children just two were severely affected, one very minor and three with almost nothing.

If the exostoses are small, they may have little or no effect on the patient. However, in more severe cases, the growths may cause deformities of the forearm, knees, ankles, spine and/or pelvis. They may impose upon nerves, tendons and/or blood vessels, and interfere with movement or circulation, causing substantial pain as a result of pinched nerves or compressed tendons.

Bones that develop exostoses most often are the upper arm (humerus), forearm, knee and shoulder blades (scapulae). Bowing of the forearm and ankle are the problems that most often require surgical correction.
Some have mild short stature as a result of shortened and/or bowed legs.

The bony growths that characterize this disorder continue to grow until shortly after puberty at which time normally new growth no longer develops.
Pain and numbness are the most limiting in the life. I almost always have this feeling on my shoulder and pelvis and sometimes the knee. If I could get rid of them that would be nice

Posted Nov 30, 2017 by Zahra 1950

The unusual bumps and growths on the bones are the most obvious symptoms. I am told that the inability to sit cross-legged (lotus position) is almost diagnostic. It was the first thing I noticed at 4 years old.

Far less visible are the mental issues that can be a greater effect on your life. Some allow you to see and think better than others, but along with that understanding what others feel and think will be much more difficult and need much deliberate work. You might see what nobody else can see, but you might also be blind to what is obvious to everyone else Particularly in social relationships do to jump to conclusions. I learned very late that I was almost always wrong, but look learn and watch for signs other folk will see immediately but you might not catch otherwise.

Posted Jul 24, 2020 by Bob D 1200