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Chronic familial hyperphosphatasemia

T C Iancu, G Almagor, E Friedman

    Radiology
    |December 1, 1978
    PubMed
    Summary
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    Chronic familial hyperphosphatasemia is a rare bone disorder causing skeletal deformities and cardiomegaly. Intense radionuclide uptake in bones, linked to abnormal collagen metabolism, aids diagnosis.

    Area of Science:

    • Genetics
    • Biochemistry
    • Radiology

    Background:

    • Familial hyperphosphatasemia is a rare genetic disorder affecting bone remodeling.
    • Characterized by elevated serum alkaline phosphatase and increased urinary hydroxyproline excretion.
    • Manifests with skeletal deformities and potential cardiomegaly.

    Observation:

    • Two siblings presented with macrocrania, multiple skeletal deformities, and cardiomegaly.
    • Radiological examination revealed typical findings of chronic familial hyperphosphatasemia.
    • Scintigraphy showed intense radionuclide uptake throughout the skeletons of both patients.

    Findings:

    • The observed intense skeletal radionuclide uptake suggests abnormal collagen metabolism.
    • This finding is characteristic of the rare bone-remodeling disease, familial hyperphosphatasemia.

    Related Experiment Videos

  • Elevated serum alkaline phosphatase and urinary hydroxyproline confirm the diagnosis.

    • Implications:

    • Radionuclide scintigraphy can be a valuable diagnostic tool for familial hyperphosphatasemia.
    • Assessing skeletal involvement in this rare bone disease is crucial for patient management.
    • Understanding collagen metabolism abnormalities provides insights into bone remodeling disorders.