World Hypophosphatasia Day 2022
World Hypophosphatasia day is observed annually on October 30 to raise awareness of HPP and support those affected by this rare bone disease. Everyone gets involved in creating and raising awareness of HPP, including patients, their caregivers, family members, researchers, and medical professionals. World HPP day 2022 is being observed under the theme HPP ON THE MOVE, which celebrates physical and metaphorical movement.
Please keep reading to know more about hypophosphatasia, its types, signs and symptoms, diagnosis, and treatment.
What Is Hypophosphatasia?
Hypophosphatasia, also known as HPP, is an inherited metabolic condition that results from low levels of an enzyme called alkaline phosphatase (ALP) that affects the development of bones and teeth. This disorder interferes with mineralization, which deposits calcium and phosphorus in developing bones and teeth. Mineralization is essential for producing strong, rigid bones and teeth that can withstand chewing and grinding.
Types Of Hypophosphatasia
There are six main types of hypophosphatasia. These types are divided depending on the degree of severity and symptoms involved. They are:
- Benign prenatal HPP
- Lethal perinatal HPP
- Infantile HPP
- Childhood HPP
- Adult HPP
- Odontohypophosphatasia
Causes And Risk Factors For HPP
Hypophosphatasia is caused by ALPL gene mutations. This gene gives instructions for making an enzyme known as tissue-nonspecific alkaline phosphatase (TNSALP), which is required for the mineralization, absorption, and retention of minerals in the bones and teeth.
If one or both of your parents has a mutant ALPL gene, you are at risk for HPP. You might get a more severe form of HPP if you have inherited two copies of the mutated gene from your parents, and you might have a milder form of HPP if you receive one mutant copy from only one parent.
Look Out For The Following Symptoms Of Hypophosphatasia
HPP varies significantly from person to person. It could be mild, severe, or even fatal. This is primarily dependent on the amount of ALP enzyme in your body. There are many HPP symptoms, including:
Symptoms Of Perinatal HPP Include
- Skeletal abnormalities
- Deformities of the chest wall or legs
Symptoms Of Childhood HPP Include:
- Short stature, knock knees and bowed legs
- Joints and bones pain
- Larger ankle or wrist joints
- Impaired mobility
- Skeletal abnormalities
- Abnormal skull shape
- Baby teeth falling out earlier than usual
Symptoms Of Adult HPP Include:
- Softening of the bones
- Regular foot and thigh bone fractures
- Premature tooth loss
- Joint inflammation and pain
Diagnosis For Hypophosphatasia
Hypophosphatasia can be diagnosed by performing a physical examination, obtaining a detailed medical history, and performing laboratory tests, including X-rays and biochemical tests that measure the alkaline phosphatase activity in the blood. Chorionic villus sampling (CVS) is used during pregnancy to test for ALPL gene mutations. Ultrasounds may also show short and bowed long bones.
Treatment For Hypophosphatasia
Asfotase alfa treats perinatal, infantile, and juvenile-onset HPP. Teriparatide, a synthetic parathyroid hormone used to treat osteoporosis, which has been demonstrated for fracture healing in adults with HPP. Other treatments target specific symptoms and complications, which include:
- NSAIDs are non-steroidal anti-inflammatory medications used to treat bone and joint pain.
- Vitamin B6 may aid in seizure control in seriously affected infants.
- Regular dental care starts at a young age.
- Occupational and physical therapy.
- Surgery may also be recommended.
Awareness Is The Greatest Agent For Change
This world hypophosphatasia day creates awareness about hypophosphatasia, its types, causes and risk factors, symptoms, diagnosis, and treatment with your friends and family. Spread awareness about HPP among people to reduce the risk of getting this rare bone disorder and improve the overall quality of life.
“Change always begins with you.’’
