Porphyrien

The Porphyrias

“…On the other hand, distinguishing between acute and non-acute porphyrias makes more practical sense in most medical disciplines and is thus used more commonly, since this also considers the potentially life-threatening acute neurovisceral attacks (Table 2) [1][2][3].…”

“…The group of cutaneous porphyrias includes porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), variegate porphyria (VP), hereditary coproporphyria, congenital erythropoietic porphyria, X-chromosomal dominant protoporphyria, and hepatoerythropoietic porphyria (Table 1) [1][2][3].…”

“…These two are the only forms of porphyria that never present with skin changes, so we will not cover them in detail. Nevertheless, we would like to note that AIP is actually the most common form of acute porphyria world-wide, and constitutes an important differential diagnosis for a large number of gastrointestinal, neurological, and psychiatric diseases [1][2][3].…”

“…After diagnosis, patients should if possible be referred to a specialized porphyria center or to a physician who is well versed in this field. Interdisciplinary care can be recommended, especially as regards treatment [1][2][3].…”

Die Porphyrien

“…Daher bedarf die Interpretation der biochemischen Ergebnisse einer gewissen Erfahrung mit Porphyrieerkrankungen, und in schwierigen Fällen liefern bei nicht eindeutigen Laborkonstellationen oft erst molekulargenetische Untersuchungen den entscheidenden diagnostischen Beitrag. Nach der Diagnosestellung sollte der Patient in einem auf Porphyrien spezialisierten Zentrum beziehungsweise durch einen auf dem Gebiet dieser Erkrankungen versierten Arzt und gegebenenfalls interdisziplinär betreut werden, insbesondere was die Therapie betrifft [1][2][3].…”