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Achondroplasia: Treatment, Cost And Side Effects

Achondroplasia

What is Achondroplasia?

Achondroplasia is a growth disorder of the bones caused due to a mutation in the fibroblast growth factor receptor 3 gene. The mutation occurs during the early development of the fetus. Sometimes the disorder is inherited from parents wherein the disease is expressed in an autosomal dominant fashion. In the case where both the genes are affected, the individual usually does not survive. The resulting condition is dwarfism where the adult gains a height only up to 4 feet 10 inches or even less. Dwarfism can be divided into two broad categories: disproportionate dwarfism and proportionate dwarfism. In disproportionate dwarfism, some body parts are smaller in size in proportion to other average or above-average sized parts of the body.

In such cases development of bones is inhibited. In proportionate dwarfism, all the body parts are smaller in size with proportion to one another. Apart from having a short stature, a person with achondroplasia has several other signs and symptoms also that prove the disease to be there in the person. In disproportionate dwarfism, the person has characteristically shortened limbs and a short torso or very short limbs and an average-sized torso. In disproportionate dwarfism, the head is quite large compared to other parts of the body. The intellectual capacity of such people is normal. Symptoms of disproportionate dwarfism include a trunk of average size, short upper arms and upper legs, short fingers, limited elbow mobility, large head with a prominent forehead and flattened bridge of the nose, bowed legs and swayed lower back.

What are the signs and symptoms of achondroplasia?

Signs and symptoms of proportionate dwarfism are a slower growth rate for age and delayed or absence of sexual development during expected puberty, children can be obese, bowed legs, develop spinal stenosis, get ear infection frequently and have an abnormal curvature of the spine. There is no treatment to cure achondroplasia. Only the complications that arise due to the disorder are addressed by the doctor. For example, certain infections like ear infection can be treated with some antibiotics and shortened limbs, spinal stenosis, etc can be managed with surgery to some extent. Sometimes growth in such individuals can also be promoted by using growth hormones.

How is the Achondroplasia treatment done?

Treatment for achondroplasia mainly includes addressing the signs and symptoms rather than completely curing the disease. Treatment methods include consultations, medications, surgery and dietary measures. Certain conditions caused due to achondroplasia are addressed by consulting separate therapist or experts. For instance, malocclusion and dental crowding due to maxillary hypoplasia can be treated by orthodontic treatment done by an orthodontist, treatment for speech problems, tonsillectomy, adenoidectomy, tracheostomy, etc are all done by specific experts like speech therapist, otolaryngologist, etc. Medications are provided for treatment of the short stature which can augment the height of the patient to some extent.

In this growth hormone injection is used to accelerate growth which is quite prominent in the first year of treatment. It is recommended to start the therapy at an age as young as 1 to 6 years. Human growth hormones like Genotropin, Humatrope, and Nutropin are used in treating short stature by stimulating skeletal muscle, organs, and linear bone growth. With growth hormones, it is also possible to stimulate erythropoietin that increases the mass of red blood cells. Surgery can also be helpful to some extent wherein especially the orthopedic problems are addressed. People with achondroplasia develop abnormalities like thoracolumbar kyphosis, craniocervical stenosis, angular deformities of lower extremities, lengthening of short extremities and spinal stenosis which are often treated by surgical procedure.

Lengthening of limbs or the upper and lower extremities are done using several procedures like using monolateral frames for lengthening of osteotomy callus, lengthening of tibia, humerus, and femur can also be done as staged procedures, neurosurgery that involves narrowing of the foramen magnum is indicated in case the patient suffers progressive head enlargement. Since obesity can be an issue in an achondroplastic patient, nutritional counseling is needed in several cases and dietary therapy must be started early.

Who is eligible for the treatment?

When the person is diagnosed with proportionate or disproportionate dwarfism, he/she will be eligible for treatment to address the issues.

Who is not eligible for the treatment?

If the person has normal growth, is not obese, the body parts grow in proportion to each other and at a normal rate at which they grow in an average person, he/she will not eligible for the treatment. A person with a short height in comparison cannot be considered as one with a short stature. Therefore, such a person will not be eligible for treatment for achondroplasia.

Are there any side effects?

Surgical procedures like foramen magnum decompression can have some side effects like severe neurologic problems. Due to such problems, a neurosurgery may also be prescribed. Treatment with human growth hormone can also cause side effects like increased resistance to insulin, carpal tunnel syndrome, pain in joints and muscles, edema and enlargement of breast tissue in men.

What are the post-treatment guidelines?

Patient must go for regular checks ups and follow-ups, follow proper diet and get sufficient relaxation to get good night’s sleep even after the treatments are done.

How long does it take to recover?

The disorder cannot be cured completely. Only some symptoms can be treated which can be an on-going process or may be required only during the early years of the life.

Are the results of the treatment permanent?

Yes the results are permanent.

What are the alternatives to the treatment?

There are some home remedies and lifestyle changes that can be adapted to meet with the problems caused due to the disorder. For example, a good posture can be maintained by using a pillow or cushion for lower back, a footstool for your affected child to sit, a healthy diet to avoid obesity, monitoring complications like getting ear infections, providing adequate support to the patient, avoiding infant devices that do not provide support to the back and neck like carrying slings, umbrella strollers, swings or backpack carriers.

Key Highlights

Safety: Medium

Effectiveness: Very Low

Timeliness: Very High

Relative risk: Low

Side Effects: Medium

Time for Recovery: Very High

Price Range: Tk. 300 to Tk. 3,00,000

Priyojon Editorial Team

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