Osteomalacia with low alkaline phosphatase: a not so rare condition with important consequences.
BMJ Case Rep
; 20162016 Jan 28.
Article
en En
| MEDLINE
| ID: mdl-26823351
ABSTRACT
Hypophosphatasia is a genetic disorder, characterised by a dysfunctional tissue-non-specific isoenzyme of alkaline phosphatase that impacts bone metabolism and predisposes to osteomalacia or rickets. The clinical presentation is very diverse, depending on the age of onset and the severity of the disease. Several forms of hypophosphatasia are recognised. We present a case of a 50-year-old woman with low impact fractures and loss of teeth at a young age. She also had a low alkaline phosphatase and was diagnosed with adult hypophosphatasia. Although the severe forms of hypophosphatasia are rather rare, the adult form is thought to occur quite frequently. As this condition is not well known by healthcare professionals, the time to diagnosis and initiation of adequate treatment is often postponed. When encountering a patient with low alkaline phosphatase, low bone density or a history of bone fractures, the possibility of hypophosphatasia should be considered.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Osteomalacia
/
Suplementos Dietéticos
/
Fosfatasa Alcalina
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Fracturas Óseas
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Fracturas Espontáneas
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Hipofosfatasia
Límite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
BMJ Case Rep
Año:
2016
Tipo del documento:
Article
País de afiliación:
Bélgica