Hypophosphatasia (HPP):
Rare Metabolic Bone Disorder
Hypophosphatasia (HPP) is a rare genetic condition that affects the development and mineralization of bones and teeth. It occurs when the body has low activity of the enzyme alkaline phosphatase (ALP), which is essential for bone strength and formation.
What Are the Symptoms?
Symptoms of HPP can vary greatly by age and severity, but may include:
- Soft or poorly mineralized bones (especially in infants and children)
- Premature loss of baby teeth with intact roots
- Bone pain, fractures, or delayed walking
- Muscle weakness or fatigue
- Breathing difficulties in severe cases
How Is It Diagnosed?
Diagnosis typically involves:
- Blood tests showing low ALP levels
- Genetic testing for ALPL gene mutations
- X-rays or bone density scans
- Family history evaluation
How Is It Treated?
While there’s currently no cure for HPP,
treatment focuses on:
- Managing symptoms (e.g., pain, mobility support)
- Enzyme replacement therapy (for severe forms)
- Dental and orthopedic care
- Multidisciplinary support from specialists like endocrinologists, dentists, and orthopedists
Why Seek Care at Endocrinology Associates?
At Endocrinology Associates, we specialize in rare metabolic and endocrine disorders. Dr. Elena Christofides is a recognized expert in complex hormone and bone health conditions and offers second opinions for rare diagnoses like HPP.
