A human body in its entire course of life acquires many diseases due to umpteen reasons. While most ailments happen due to health factors during our life, the genetic disease may come as a part and parcel before or at the time of birth. Known as congenital disorders, they occur when a mutation inherited from the parents present at the time of birth affects the chromosomes. Some cause mild to severe symptoms at birth, while others develop over a period. Genetic disorders typically happen due to an altered gene from your parents that increases your risk of developing this condition.
Hypophosphatasia (HPP) is one such inborn issue that causes abnormal development of the bones and teeth. Caused by changes in the ALPL, an important gene that provides instructions for making an enzyme called tissue-nonspecific alkaline phosphatase or TNSALP. A member of the alkaline phosphatase family of proteins, this enzyme plays an important role in the growth and development of bones and teeth. In mild prenatal HPP, an unborn infant may have skeletal defects that include respiratory problems besides short stature, brittle bones, hypercalcemia, and much more. The severity of HPP can vary widely from fetal death to sudden fractures, short limbs, deformities, and skeletal abnormalities. While it affects infants, children, and adults and can be life-threatening, especially before birth and just after it, some patients may experience a milder form of this disease.
Who Is At Risk?
There are six main types of HPP-The benign prenatal HPP, lethal perinatal HPP, infantile HPP, childhood HPP, adult HPP and odonto HPP (which only affects the teeth). One is at risk of hypophosphatasia if one or both of the parents carry a mutated ALPL gene. If a child inherits two copies of the mutated genes, he or she may have severe hypophosphatasia. If the child inherits only one mutated copy from only one parent, the ailment will be less severe. In prenatal HPP, an unborn will have certain skeletal defects that may not turn severe. But a lethal perinatal HPP can result in death, either in the womb or at the time of birth.
Symptoms of Hypophosphatasia
The symptoms of hypophosphatasia can differ. Some children develop them early on, whereas others might have symptoms that may show up as they grow older and may include the following:
- Skeletal malformations
- Short stature with bowed legs
- Decreased mobility
- An anomaly of the rib
- Bone and joint pain
- Enlarged ankle joints
- Abnormal teeth and skull
- Softening of the bones
- Frequent fractures of the foot and thigh bones
- Premature loss of teeth
- Abnormal curvature of a long bone
- A reduction in erythrocytes volume causing anaemia
Diagnosis Of Hypophosphatasia
It becomes very important to diagnose HPP in the early stage to manage symptoms and decide on a further course of treatment. Diagnosis is based on identifying signs and symptoms, taking a medical history, a detailed physical examination, and conducting lab tests and X-rays. Certain biochemical tests are also done to measure the activity of alkaline phosphatase in the blood. Another effective test, CVS or Chorionic villus sampling is a prenatal diagnostic to identify chromosome abnormalities, ALPL testing, and gene mutations. In this test, placenta tissues are removed for a detailed analysis to confirm the diagnosis during pregnancy.
Complications Of Hypophosphatasia
The following complications that most likely occur during and during childhood and infancy may include:
- Failure to gain weight
- Respiratory problems including a predisposition to pneumonia
- High levels of calcium in the blood
- Increased intracranial pressure caused by premature closure of one or more joints that connect the bones of an infant’s skull
- Excessive calcium deposit in the kidneys
- Chronic pain of the bones, joints, and muscles in adults
- Premature loss of secondary teeth in children
The hard truth is that hypophosphatasia is a lifelong disease and the treatments target specific symptoms and complications. This includes the following:
- Anti-inflammatory drugs to treat bone and joint pain
- Vitamin B6 to help to control seizures in severely affected infants
- Regular dental care right from the infancy stage
- Surgery only in extreme cases
- Rodding in case of repeated fractures is when a metal rod is placed through the center opening of a bone
- Physical therapy
- Orthotic braces for children to encourage stability
- In-sole orthotics for both adults and children