When the diagnosis misses the mark: The psychiatric cost of misdiagnosing hypophosphatasia as fibromyalgia

误诊失误:将低磷酸酯酶症误诊为纤维肌痛的精神代价

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Abstract

Hypophosphatasia (HPP) is a rare metabolic bone disorder often misdiagnosed as fibromyalgia due to overlapping symptoms such as chronic pain, fatigue, and muscle weakness. This diagnostic error disproportionately affects women and can result in significant psychological distress due to repeated dismissal of symptoms. Despite low serum alkaline phosphatase (ALP) being a key biochemical clue to HPP, it is frequently overlooked in standard diagnostic evaluations. Consequently, many patients endure years of ineffective treatment, invalidation, and worsening psychiatric outcomes. This editorial emphasizes the need for greater clinical vigilance in distinguishing HPP from fibromyalgia, particularly when features such as chronic pain, premature tooth loss, and persistently low ALP are present. Gender biases in pain diagnosis further compound this problem, leading to greater misdiagnosis rates among women and contributing to the erosion of trust in medical care. The psychiatric consequences of diagnostic delays are substantial, with affected individuals experiencing elevated rates of depression, anxiety, and emotional distress. Greater recognition of low ALP as a meaningful diagnostic clue may enhance diagnostic accuracy, improve patient outcomes, and reduce the psychological toll of misdiagnosis.

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