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Hereditary Multiple Exostoses

Hereditary Multiple Exostosis (HME), also known as Multiple Osteochondromas (MO), is a genetic condition where many benign bone tumors called osteochondromas grow. These tumors usually form near growth plates and may hinder normal bone growth and development. Below are 60 common questions related to HME, with their answers:

 

HME is a genetic condition causing numerous benign bone tumors called osteochondromas

HME results from mutations in EXT1 or EXT2 genes, inherited in an autosomal dominant manner

Diagnosis is made through physical exam, family history, and Xrays showing multiple osteochondromas

Symptoms include multiple lumps on bones (osteochondromas), joint pain, limited movement, and uneven limb lengths

Symptoms often appear in childhood and may continue into teenage years

HME occurs in about 1 in 50,000 people

Osteochondroma is a type of exostosis specifically referring to benign bone growths covered by cartilage

Generally, they are benign but can infrequently change into chondrosarcoma

HME is passed down in an autosomal dominant way, where one altered gene can cause the condition

Yes, HME affects both sexes equally

Yes, testing can detect mutations in EXT1 or EXT2 genes

It may lead to pain, discomfort, limited joint function, and possible deformities affecting daily tasks

Complications can include growth issues, arthritis, nerve pressure, and rarely, malignant changes

Yes, it can lead to stunted growth or uneven limb lengths

Treatment aims to relieve symptoms, manage pain, and sometimes surgically remove problematic osteochondromas

Surgery might be suggested if osteochondromas cause pain, limit movement, or cause pressure issues

Yes, physical therapy can help enhance movement and alleviate pain

Exercise can be good if supervised by a healthcare professional, but highimpact activities should be done with care

Consult your doctor to assess and exclude more serious concerns

The risk of malignant change is low, less than 1%

Each child has a 50% chance to inherit the altered gene and develop HME

Recurrence is uncommon but can occur, thus regular monitoring is important

Osteochondromas are growths near growth plates, whereas bone spurs are smooth outgrowths on existing bone, often due to aging or joint stress

Pain varies; some may have significant discomfort, others might feel little to none

Orthopedic surgeons usually handle HME, sometimes working with genetic experts for family and genetic advice

Keeping a healthy weight, lowimpact exercises, and regular checkups can assist in symptom management

No specific drugs reduce osteochondromas; the focus is on managing symptoms

Yes, they may restrict motion and create joint pain or deformities

Signs include growing pain, an increase in size of a stable bump, changes in feel, and swelling symptoms

Additional imaging and biopsy are usually needed for cancer diagnosis

HME may be linked to rare issues like heart defects, but mainly it affects the bones

There’s no special diet for HME, but eating balanced meals helps overall health and bone strength

There is no cure; treatments aim at managing symptoms and complications

Not all need surgery, only those with symptomatic osteochondromas

Yes, various support groups and organizations offer resources and community help

Changes in appearance and physical activity can lower selfesteem and mental health, so psychological support is important

Using protective pads or adjusting activities may reduce trauma to delicate areas

Prenatal tests and ultrasounds can sometimes show physical signs if there's a known family mutation

HME usually doesn’t affect life span if symptoms and complications are managed well

Similar issues can appear in other species, but focus is mainly on humans

Regular evaluations are recommended, with frequency based on symptoms and physician advice

Testing can find mutations in the EXT1 or EXT2 genes, available from specialized labs or clinics

Preparation involves health assessments and talking about risks and benefits with your surgeon

Yes, it can be mistaken for other bone disorders, making family history and genetic testing important

Generally safe activities include swimming and cycling; highimpact sports should be approached cautiously

Osteochondromas usually grow near long bone growth plates but can appear in other areas

Not necessarily; some may not be felt or seen yet still cause internal issues

It may cause growth problems, leading to limb length differences or angular deformities

Yes, research is concentrated on understanding genetics and related factors

Genetic counseling might assist with family planning, but you cannot avoid inheritance without special reproductive methods

Yes, if they grow large enough to push against nearby nerves

Breaks can cause pain and need medical checkup, usually treated conservatively

HME usually does not impact fertility, but planning for family is important

Always talk to healthcare providers for personal diagnosis and treatment options, as managing HME can differ greatly from one person to another.