3 research outputs found
Socio-economic burden of rare diseases: A systematic review of cost of illness evidence
A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias
Acute porphyrias are a heterogeneous group of metabolic disorders resulting from a variable catalytic defect of
four enzymes out of the eight involved in the haembiosynthesis pathway; they are rare andmostly inherited diseases,
but in some circumstances, the metabolic disturbance may be acquired. Many different environmental factors
or pathological conditions (such as drugs, calorie restriction, hormones, infections, or alcohol abuse) often
play a key role in triggering the clinical exacerbation (acute porphyric attack) of these diseases that may often
mimic many other more common acute medical and neuropsychiatric conditions and whose delayed diagnosis
and treatment may be fatal. In order to obtain an accurate diagnosis of acute porphyria, the knowledge and the
use of appropriate diagnostic tools are mandatory, even in order to provide as soon as possible themore effective
treatment and to prevent the use of potentially unsafe drugs, which can severely precipitate these diseases, especially
in the presence of life-threatening symptoms.
In this paper, we provide some recommendations for the diagnostic steps of acute porphyrias by reviewing literature
and referring to clinical experience of the board members of the Gruppo Italiano Porfiria (GrIP)