Hypophosphatasia: Treatment, Cost and Side Effects

Hypophosphatasia is an autosomal recessive rare genetic disorder of the bones and teeth. The disorder is a metabolic one where there is abnormal mineralisation of the bones and teeth. Calcium and phosphorus are the main minerals required for bone formation in the body. The genetic disease mainly impairs the bones to take up these minerals. Therefore, the bones and teeth in the body are quite soft and brittle and are prone to breakage and fracture. Many a times this defect causes early loss of teeth in individuals. The disease can be present in any one of the six different forms of it. The six forms range from being extremely severe to cause stillbirth to not so severe abnormality like only premature loss of milk or deciduous teeth without any deformity of the bones. The 6 forms of hypophosphatasia are perinatal, infantile, childhood, adult and odontohypophosphatasia. It is not necessary that a person with the disorder will have all the symptoms of it. He/she may have a few symptoms which can be severe or mild, may be very evident in the young age but go away on their own during adulthood and so on. In perinatal hypophosphatasia, the skeleton does not form appropriately while the developmental stages of the fetus. This results in malformed structure of limbs and other bones in the body thereby resulting in stillbirth. In a few other cases, the child with the deformities may be born but usually die in a few days due to several ailments like respiratory failure. In prenatal hypophosphotasia, the skeletal deformities can be diagnosed before it birth by ultrasound and the child may be born with bowed limbs. But the deformities may also become less severe as the child grows up. Infantile form of the disorder may not be evident while birth but can start to become apparent in the first 6 months of birth. It is often characterised by either disproportionately wide head or increased fluid pressure all around the brain. Although the disorder being a rare genetic disorder cannot be cured completely, only its symptoms can be managed using medication, physical therapy and monitoring.

Hypophosphatasia in any form cannot be treated completely as it is a rare genetic disorder. Management of symptoms include pain management with non-steroidal anti-inflammatory drugs (NSAIDs), the bones in adults are more prone to stress fractures which is treated with the drugs against osteoporosis known as teriparatide. To reduce the chance of fatality due to the disease, FDA approved drug called asfotase alfa is used. Scheduled monitoring of intracranial fluid pressure in infants is done and fractures are also monitored closely. Enzyme replacement is also carried out along with asfotase alfa (ALP) and has been observed to show positive results. It has also been observed that when healthy bone marrow and bone fragments are donated to affected patients, the newly added cells act as precursors for Tissue non-specific alkaline phosphatase (TNSALP) osteoblasts. The disorder also causes neonatal seizures which can be treated using vitamin B-6. The disorder may be responsible for gait problems and Rachitic deformities in affected individuals which can be treated with orthopaedic surgery. Affected individuals may suffer from pseudofractures, fractures and other deformities of the bone that would require correction by placing rod in them. Craniostosis or increased fluid pressure surrounding the brain can be treated by neurosurgery.

When a fetus is diagnosed with skeletal deformities while in the womb but is not born dead, will be eligible for treatment, children and adults diagnosed with the disease is eligible or treatment for the particular type of deformity that he/she is affected with.

Every person with bowed legs, fractures and osteoporosis are not eligible for the treatments for this disorder.

Some common side effects of asfotase alfa can be reaction on the injection site that include pain, itching, soreness, discoloration, redness, bruising, hard lump or swelling, redistribution of body fat after the injection, calcification of soft tissues and difficulty breathing, puffy eyes, nausea, vomiting, irritability etc. Osteoporosis drug usually does not have serious side effects and if they occur they can be leg cramps, mild dizziness, sweeling, itching, redness and bruising on the injected site, cough, runny nose and a few more.

It is recommended to these patients to avoid contact sports after monitoring and treatment for the disease and light exercises can be done.

The treatment options related to this disorder mainly focus on managing the symptoms. So, each symptom’s recovery time will vary depending upon the severity of the defect, type of defect and the type of treatment that it requires. There is no permanent cure for the disease.

The price of the treatment in India may range from Rs. 500 to Rs. 5,000 including consultation fees, medication and surgerical procedures.

No, the results of the treatment are not permanent.

Dental monitoring and physical therapy may be done to monitor the effect of the disease.