Hypophosphatasia

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
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Degenerative Bones, Joints, and Spine Care (A - Z)

Hypophosphatasia (HPP) is a rare genetic disorder that affects bone and teeth development due to low levels of alkaline phosphatase (ALP) enzyme.

Types of Hypophosphatasia

HPP has several types, each varying in severity:

  1. Perinatal (Lethal) HPP: The most severe form, often fatal shortly after birth.
  2. Perinatal Benign HPP: Less severe than perinatal lethal, with survival beyond infancy.
  3. Infantile HPP: Affects infants with symptoms like skeletal abnormalities and respiratory issues.
  4. Childhood HPP: Symptoms appear after infancy, affecting bone growth and development.
  5. Adult HPP: Milder form affecting bones and teeth in adulthood.

Causes of Hypophosphatasia

HPP is caused by mutations in the ALPL gene, leading to reduced ALP activity:

  1. Genetic Mutations: Inherited from parents who carry mutated ALPL gene.
  2. Autosomal Recessive or Dominant: Depending on the type of mutation inherited.
  3. De Novo Mutations: New mutations occurring spontaneously in an individual.

Symptoms of Hypophosphatasia

Symptoms vary depending on the type and severity of HPP:

  1. Skeletal Abnormalities: Short stature, bowed legs, and soft bones.
  2. Dental Issues: Early tooth loss, poorly formed teeth.
  3. Respiratory Problems: Difficulty breathing due to chest deformities.
  4. Muscle Weakness: Reduced muscle tone and strength.
  5. Fractures: Bones prone to breaking easily.
  6. Delayed Motor Development: Issues with walking and movement.

Diagnostic Tests for Hypophosphatasia

Diagnosing HPP involves several tests to assess ALP levels and bone health:

  1. ALP Enzyme Assay: Measures ALP activity in blood or tissues.
  2. Genetic Testing: Identifies mutations in the ALPL gene.
  3. Bone X-rays: Detects skeletal abnormalities and bone density.
  4. Ultrasound: Checks for prenatal skeletal deformities in utero.
  5. Dental Examination: Assesses tooth structure and development.

Non-Pharmacological Treatments for Hypophosphatasia

Managing HPP focuses on supportive care and symptom relief:

  1. Physical Therapy: Improves muscle tone and motor skills.
  2. Orthopedic Interventions: Corrects bone deformities through braces or surgery.
  3. Dental Care: Regular check-ups and treatments for dental issues.
  4. Respiratory Support: Assists breathing in severe cases.

Drugs Used in the Treatment of Hypophosphatasia

  1. Asfotase Alfa: Enzyme replacement therapy to increase ALP levels.
  2. Calcium and Vitamin D Supplements: Support bone mineralization.
  3. Pain Medications: Manage discomfort from fractures and bone pain.

Surgeries for Hypophosphatasia

  1. Orthopedic Surgery: Corrects bone deformities such as bowed legs.
  2. Dental Procedures: Treats dental issues like premature tooth loss.

Prevention and Outlook

Early diagnosis and supportive care improve outcomes in HPP:

  1. Genetic Counseling: Helps families understand risks and inheritance patterns.
  2. Regular Medical Follow-ups: Monitor bone health and overall development.

When to See a Doctor

Consult a healthcare provider if you notice:

  1. Delayed Development: Issues with motor skills or growth.
  2. Bone or Dental Problems: Frequent fractures or dental issues.
  3. Breathing Difficulties: Respiratory problems or chest deformities.

Conclusion

Hypophosphatasia is a complex genetic disorder that affects bone and tooth development. While there is no cure, early diagnosis and appropriate management can significantly improve quality of life. Understanding the types, causes, symptoms, diagnostic methods, and treatment options is crucial for patients and caregivers dealing with HPP.

 

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. Thank you for giving your valuable time to read the article.

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References

 

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