What makes rare diseases trickier is the fact that we don’t often suspect them coming. And if the disease came in different forms and had different symptoms for each one, and most of those symptoms could be easily mistaken for ‘common conditions’ diagnosing the disease becomes even tougher. Hypophosphatasia, statistically, affects one in ten lakh people. It is a genetically inherited disorder that negatively affects how your bones and teeth develop. How does it do that? And is it fatal? And what are the symptoms and treatment available? Let us find out.
What Is Hypophosphatasia?
According to Dr Iqbal Hassan, Dental Surgeon, Ork Dental Clinic, Hyderabad, “Hypophosphatasia is a genetic disorder, passed on to the child from their parents, that impacts how our bones form. The condition makes the bones brittle and soft, and at times deformed. Our body has a gene called ALPL. Usually, this gene instructs your body to prepare an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). TNSALP is necessary for mineralisation (hardening) of bones and teeth. Variants that impact how the ALPL gene produces its TNSALP, mean it cannot do its job properly (or at all),” Which, in turn means you would have brittle, easily breakable, weak, soft or deformed bones.
Also Read: Is Excessive Joint Cracking A Sign Of A Disease; Neurologist Answers
Cause
Severe forms of hypophosphatasia, such as perinatal hypophosphatasia, are inherited in an autosomal recessive manner. This implies that the child must inherit a variation of the ALPL gene from both biological parents. The majority of the time, biological parents are unaware that they carry the gene variant that can cause HPP and do not exhibit any symptoms of it!
“Both autosomal dominant (inherited from one parent) and autosomal recessive (both parents) patterns can be seen in milder forms of hypophosphatasia. However, when there is a dominant pattern, a child only needs to inherit an ALPL gene variant from one biological parent,” Dr Hassan adds.
Also Read: Calcium VS. Vitamin D: Expert Shares Insights On Which One Is More Important
-1753730241909.jpg)
Symptoms
Manifestations of HPP can vary widely among individuals. In the most serious cases, the disease will be diagnosed before birth or shortly after. In some cases symptoms may not appear until adolescence or adulthood.
Signs of Infant-Onset HPP:
- Short and bent arms and legs
- Irregular shape of chest, underdeveloped ribs, or malformed bone
- Soft bones of the skull
- Feeding problems
- Inability to thrive
- breathing problems that require mechanical ventilation at times
- elevated blood calcium level Seizures dependent on vitamin B6
Signs of Adolescent And Adult HPP:
- The premature loss of baby teeth or adult, secondary teeth with roots
- Skeletal problems and short stature
- Bowed legs
- Knees that stop
- Enlarged wrists and ankles
- Pain in a bone and/or joint Fractures
- Funny shape of the skull
- Mobility or gait problems
- Sleep problems, anxiety, and/or depression
Treatment And Management
There is no cure for hypophosphatasia. However, a treatment called asfotase alfa is an injection that provides the best opportunity to manage this condition. This is a subcutaneous (under skin) injection of a medication that is a type of TNSALP enzyme replacement therapy. Children and adults with HPP will be able to receive this medication if they have symptoms associated with hypophosphatasia that develop in childhood.
Also Read: The Bone Health Epidemic: Why 30-Somethings Are Being Diagnosed With Bone-Related Conditions
Clinical studies show that asfotase alfa improves breathing function, calcium levels, bone condition, and overall survival in children with infantile and early childhood (juvenile) HPP. Other treatments of HPP are largely focused on symptom management and complications associated with HPP. Your child may need a team of specialists involved in their care. Specialists involved in your child's care may include:
- Pediatricians
- Orthopedists
- Pediatric endocrinologist
- Pediatric neurosurgeons
- Nephrologist