Achondroplasia Treatment- Orthopedics

Achondroplasia, also known as achondroplasia dwarfism, is an inherited condition involving a defect in the fibroblast growth factor, which is important in regulating bone cell growth. This affects bone and neurological development. Bones grow abnormally, resulting in short limbs and height; neurological problems also occur in about 20% to 50% of people with this condition.

Who treats achondroplasia?

A couple of different specialists may be involved in helping manage the condition. Pediatricians, medical geneticists, nutritionists, achondroplasia specialists, and surgeons are often consulted. Both orthopedic surgeons and neurosurgeons may be involved depending on the patient’s needs.

Doctors devise a treatment plan for people born with this condition. There is no cure for achondroplasia, and all that can be done is manage and treat the symptoms of the condition.

Diagnosis for treatment

An ultrasound can diagnose a fetus with achondroplasia. A child born with the condition needs to have X-rays, CT scans, and possibly MRI scans to assess the bone growth in the legs and arms, and to assess the spine as well. This is vital because problems with the bones in the spine and skull can result in neurological damage since it can impact the spinal cord and the brain. The results from various imaging tests can help establish the treatment requirements.

Treatment methods for achondroplasia

Surgery to lengthen the legs

Limbs can be surgically lengthened. The recommendation is that this surgery should be done when a child is 5 or 6 years of age. The procedure is then repeated in boys ages 15 to 16 and in girls ages 13 to 15.

The first surgery is usually done on the legs. A cut is made to separate the leg bone. Then an internal rod or external fixator device is attached. A lengthening device is used to increase the length of the bone. Surgery can be done on both legs simultaneously or one leg at a time (a week apart).

There are different types of leg-lengthening surgeries that can be done:

• Femur lengthening: involves lengthening the long bone of the upper leg and thigh.
• Tibia lengthening: this is when the long bone of the lower leg is lengthened.
• Both femur and tibia lengthening: Both bones of the upper and lower leg are lengthened.

Post-surgery care

• Patients will stay in the hospital for about four days after the surgery
• The lengthening process starts a week later. This takes around ten to twelve weeks for the bones to be slowly lengthened
• Physical therapy is essential at this time, and patients must limit weight-bearing and standing time
• Total healing time varies from 2 months to 4 months

Complications

• Leg bowing
• Pain
• Refracturing of the bone
• Stiff joints
• Injury to nerves and blood vessels

Surgery to lengthen the arms

• Surgery on the arms can be done in childhood or when the child is about 15 or 16 years of age
• External fixator devices are attached to both long bones (humerus bone of both arms)
• The bone is then lengthened
• Modified methods may be involved if the arms are deformed

Post-surgery care

• The patient remains in the hospital for 2 nights on average
• The lengthening part of the procedure begins a week after surgery
• Physical therapy is done a few times weekly, with clinic visits every 2 to 4 weeks
• The surgeons will take off the external fixator device only after the bone has formed properly.
• In the case of internal rods, these may remain in place depending on your specific situation
• It takes about 2 to 4 months for the bones to heal completely

Complications

• Bone bowing
• Pain
• Refracturing of the bone
• Stiff joints
• Injury to nerves and blood vessels

Decompression and fusion surgery

In some cases, the bone growth of the skull and vertebrae causes compression of nervous tissue.

This is because the opening at the base of the skull may become narrowed. The vertebral bones surrounding the spinal cord can also grow abnormally, causing the spinal canal to narrow. This condition is called spinal stenosis. Compression problems of the spine and brain are dangerous and need to be corrected.

To alleviate these neurological problems, some of the bony structures may need to be removed or altered with surgery to give the spine and brain more space. These surgeries are done under general anesthesia.

• Spinal fusion surgery: this procedure takes four to five hours, and involves correcting the spine in children with achondroplasia. Curved spines (kyphosis) in children cause spinal compression, which the surgery corrects by fusing the vertebrae.
• Decompression surgery: In this procedure, surgeons carefully remove the tissue (bone tissue mainly) that is pushing on the nervous tissue. This may be done for the vertebrae and the foramen magnum, which is the hole at the back of the skull where the brain and spinal cord meet. The surgery will take an hour or even longer, depending on how complex the problem is.

Post-surgery care

Patients can leave the hospital after about four days.

Complications

Although rare, complications are possible, including the following:

• Infection
• Blood clots
• Nerve damage

Guided growth plate surgery

Guided growth plate surgery (hemiepiphysiodesis) is done when the bones are very bowed. This can be completed as an outpatient surgery in which the doctor makes a small hole into the growth plate of the bone and attaches a titanium plate. The idea is to stop the longer side of the bone from growing; it gives the shorter side a chance to grow and catch up in length. 

Post-surgery care

The patient needs to use crutches for a couple of weeks after the surgery.

Complications

Although rare, possible complications may include:

• Leg damage

• Nerve damage
• Bleeding

Osteotomy

Osteotomy involves surgery to correct the shape of the bones. The surgeon cuts into the misshapen leg bones and realigns them. The bones are placed in the correct position using a variety of external and internal fixation devices.

Post-surgery care

Children remain in the hospital for about three days after the surgery. The devices need to be worn for eight to about twelve weeks, after which another surgery is done to remove the fixation devices.

Complications

Potential, rare complications include:

• Stiff knee joints

• Nerve or blood vessel damage
• Blood clots

Surgery for hydrocephalus

Some children with achondroplasia develop hydrocephalus. Hydrocephalus is when there is an accumulation of excess cerebrospinal fluid (CSF) in the brain. Surgery to correct this involves placing a ventriculoperitoneal shunt that goes from the brain to the abdomen. This shunt is necessary and used as a way to drain excess CSF fluid from the brain.

Post-surgery care

• Patients leave the hospital a week after surgery.
• Patients may, at first, have headaches, but they should improve as the shunt works.

Complications

Uncommon potential complications include:

• Vomiting
• Stiff neck and headache
• Infection

Medication

In the past, growth hormone was tried as a way to stimulate growth in children with achondroplasia. However, the treatment was not effective in treating achondroplasia.

Recently, the Food and Drug Administration approved the use of a medication that contains vosoritide. This medicine which is known as Voxzogo is used for children who are five years of age and older. The medicine is also only effective in children whose bone epiphyses (the ends of bones that eventually ossify when growth ends) have not yet fused.

References:

• Aschenbrenner, D. S. (2022). New Drug Treats Pediatric Achondroplasia. The American Journal of Nursing, 122(3), 18-18.

• Chilbule, S. K., Dutt, V., & Madhuri, V. (2016). Limb lengthening in achondroplasia. Indian journal of orthopaedics, 50, 397-405.
• Shirley, E. D., & Ain, M. C. (2009). Achondroplasia: manifestations and treatment. JAAOS-Journal of the American Academy of Orthopaedic Surgeons, 17(4), 231-241.
• Unger, S., Bonafé, L., & Gouze, E. (2017). Current care and investigational therapies in achondroplasia. Current osteoporosis reports, 15, 53-60.

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