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About Adult hypophosphatasia

What is Adult hypophosphatasia?

Adult hypophosphatasia is a rare genetic disorder that affects the bones and teeth. It is caused by a deficiency of the enzyme alkaline phosphatase, which is responsible for breaking down certain proteins in the body. Symptoms of adult hypophosphatasia include bone pain, fractures, and dental problems such as tooth decay and loss. Treatment typically involves medications to reduce pain and improve bone health.

What are the symptoms of Adult hypophosphatasia?

The symptoms of adult hypophosphatasia vary depending on the severity of the condition. Common symptoms include:

-Bone pain
-Joint pain
-Muscle weakness
-Tooth loss
-Softening of the bones
-Bone deformities
-Delayed healing of fractures
-Impaired wound healing
-Shortness of breath
-Respiratory infections
-Growth hormone deficiency
-Enlarged liver and spleen
-Calcium deposits in the soft tissues
-Calcium deposits in the blood vessels
-High levels of alkaline phosphatase in the blood

What are the causes of Adult hypophosphatasia?

The exact cause of adult hypophosphatasia is unknown. However, it is believed to be caused by mutations in the gene that codes for the enzyme tissue-nonspecific alkaline phosphatase (TNSALP). Mutations in this gene can lead to a decrease in the activity of the enzyme, which can cause the symptoms of adult hypophosphatasia.

What are the treatments for Adult hypophosphatasia?

1. Enzyme replacement therapy: This involves replacing the deficient enzyme with a recombinant form of the enzyme.

2. Bisphosphonate therapy: This involves taking medications that help to reduce bone breakdown and increase bone formation.

3. Vitamin D and calcium supplementation: This helps to maintain adequate levels of calcium and phosphorus in the body.

4. Physical therapy: This helps to maintain muscle strength and joint mobility.

5. Surgery: In some cases, surgery may be necessary to correct deformities or fractures caused by the condition.

6. Pain management: This may involve medications, physical therapy, or other treatments to help manage pain.

What are the risk factors for Adult hypophosphatasia?

1. Age: Adult hypophosphatasia is most commonly seen in adults over the age of 40.

2. Genetics: Adult hypophosphatasia is caused by mutations in the ALPL gene, which is inherited in an autosomal recessive pattern.

3. Gender: Adult hypophosphatasia is more common in males than females.

4. Medical history: People with a family history of hypophosphatasia or other metabolic bone diseases are at an increased risk of developing adult hypophosphatasia.

5. Certain medications: Certain medications, such as anticonvulsants, can increase the risk of developing adult hypophosphatasia.

Is there a cure/medications for Adult hypophosphatasia?

There is no cure for adult hypophosphatasia, but medications can be used to help manage the symptoms. These medications include bisphosphonates, calcitonin, and enzyme replacement therapy. Additionally, lifestyle modifications such as avoiding strenuous activities, maintaining a healthy diet, and taking calcium and vitamin D supplements can help to reduce symptoms.