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Hypophosphatasia

Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood.

Prevalence

<1 / 40 000

N/A

US Estimated

N/A

Europe Estimated

Age of Onset

All ages

ICD-10

E83.3

Inheritance Pattern

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

Interest over time

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5 Facts you should know

FACT

Hypophosphatasia is a rare inherited disorder characterized by low levels of tissue-nonspecific alkaline phosphatase (TNSALP), leading to impaired bone mineralization and phosphate metabolism

FACT

This condition presents in various forms, ranging from severe forms in infancy causing skeletal abnormalities, respiratory problems, and high mortality, to milder forms appearing in childhood, adolescence, or adulthood, causing bone fragility, fractures, and dental issues

FACT

Hypophosphatasia is caused by mutations in the ALPL gene, leading to decreased enzyme activity of TNSALP, which plays a crucial role in bone mineralization

FACT

Diagnosis involves clinical evaluation, blood tests to measure alkaline phosphatase levels, genetic testing to identify ALPL gene mutations, and imaging studies to assess bone abnormalities

FACT

Management includes supportive care, physical therapy, orthopedic interventions for fractures or deformities, and recently approved enzyme replacement therapy (asfotase alfa) for severe forms