WHAT IS HME

Hereditary Multiple Exostoses (HME) is a rare genetic bone disorder characterised by the development of multiple cartilage-capped bony lumps, known as exostoses, that typically form at the ends of various bones, particularly the long bones of the arms and legs. These exostoses can begin to grow during childhood and may continue to develop into adulthood, leading to a range of physical and emotional challenges.

As individuals living with HME navigate the complexities of their condition, it is essential to foster a sense of community and understanding. Support networks can play a critical role in providing emotional assistance, sharing experiences, and offering practical resources. By raising awareness about HME and its impact, we can help reduce stigma, promote empathy, and ensure that those affected receive the care and support they need.

In addition to the physical ramifications, children with HME may face significant hurdles in their educational journey. They might miss school due to medical appointments or recovery from surgeries, leading to gaps in their education and social interactions. Unfortunately, misunderstandings about the condition can result in bullying and stigma from peers, further exacerbating the emotional toll on affected children and their families.

HME is estimated to affect approximately 1 in 50,000 individuals, making it a relatively rare condition. Newly diagnosed families often feel isolated and distressed, unsure of where to turn for support and information. The exostoses associated with HME can vary significantly in size and shape, and they are typically visible, protruding at awkward angles from the body. This visibility can lead to additional emotional and social challenges, as individuals may feel self-conscious about their appearance.

If you or someone you know is affected by Hereditary Multiple Exostoses, we encourage you to reach out for support and information. Together, we can work towards better understanding and management of this challenging disorder.

Hereditary Multiple Exostoses (HME) is not just a physical condition; it encompasses a wide range of challenges that can affect the quality of life for those diagnosed and their families. Here are some key aspects to consider:

Genetic Background

HME is an autosomal dominant disorder, meaning it can be inherited from just one affected parent. Therefore those with HME have a 50% chance of passing the condition on to their children. However, approximately 10% of individuals have the condition as a result of a spontaneous mutation and is the first person to be affected in their family.

The condition is linked to mutations in specific genes that play a role in bone formation and growth. Understanding the genetic basis of HME can help families comprehend the likelihood of passing the disorder to future generations.

Pre-natal or family gene testing will need discussion with a Clinical Geneticist. Preimplantation Genetic Diagnosis (PGD) is available for HME sufferers at some Fertility Centres in the UK.

Symptoms and Complications

In addition to the visible bone growths, individuals with HME may face various complications, including:

Joint Pain and Stiffness: The presence of exostoses can lead to joint issues, including arthritis, as they may interfere with normal joint function.

Nerve Compression: Exostoses can exert pressure on nearby nerves, leading to numbness, tingling, or shooting pain in the affected limbs.

Mobility Challenges: The physical limitations caused by pain and the presence of exostoses can impact an individual’s ability to participate in physical activities, sports, and daily routines.
Rarely, (2-5% over a lifetime) an exostosis can become cancerous. Rapidly growing and painful exostoses with a cartilage cap thickness in excess of 10mm are usually those with this potential.

Psychological Impact

The psychological effects of HME can be profound. Many individuals experience:

Anxiety and Depression: The chronic pain, frequent medical interventions, and social stigma can contribute to mental health challenges.

Social Isolation: Feelings of being different from peers due to visible exostoses can lead to low self-esteem, withdrawal from social activities, further exacerbating feelings of loneliness.

Treatment Options

While there is no cure for HME, various treatment options may be explored, including:

Pain Management: Medications, physical therapy, and alternative therapies may help alleviate pain and improve mobility.

Surgical Interventions: Surgery is often necessary to remove problematic exostoses or to correct deformities. The decision for surgery is typically based on the severity of symptoms and the impact on the individual’s quality of life.

Regular Monitoring: Regular check-ups with healthcare professionals can help track the growth of exostoses and address any emerging complications promptly.