Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989–2013

Abstract

Porphyrias are rare diseases caused by altered haem synthesis leading to the accumulation of different haem intermediates. Neurovisceral attacks may occur in acute porphyrias, while photosensitivity is the presenting symptom in cutaneous porphyrias. We present here an overview of symptoms and a flowchart for the diagnosis of cutaneous porphyrias, with recommendations for monitoring and an update of treatment options. From the Danish Porphyria Register, we present the incidences and approximate prevalences of cutaneous porphyrias within the last 25 years. A total of 650 patients with porphyria cutanea tarda were identified, 73 with erythropoietic protoporphyria, 9 with variegate porphyria, 4 with hereditary coproporphyria and one with congenital erythropoietic porphyria. The total incidence of all porphyrias was ~0.52/100,000 per year.

Diagnosing diabetes mellitus in patients with porphyria cutanea tarda

“…Porphyria cutanea tarda is the most prevalent porphyria disease with a prevalence around 1 : 10,000 . The decreased enzyme activity of uroporphyrinogen decarboxylase results in accumulation of hem intermediates and porphyrins, especially in skin and the liver.…”

An Extremely Rare Case of Congenital Erythropoietic Porphyria Diagnosed In Adulthood with Unusual Life Threatening Complications

“…Hepatoerythropoietic porphyria (HEP) presents with similar symptoms in neonatal period but can be differentiated by absence of isocoproporphyrin in urine or feces. [7] In EPP acute skin symptoms (burning sensations, oedema, blisters, erythema and purpura) appear within minutes to hours. Further EPP has autosomal dominant inheritance (95% of cases) and there is marked elevation of protoporphyrins in erythrocytes.…”

Blistering of the hands following a manicure at a nail salon

“…The most common form of hepatic porphyria worldwide [ 1 ] , porphyria cutanea tarda (PCT) is frequently fi rst diagnosed because of its cutaneous manifestations. The disorder is caused by decreased uroporphyrinogen decarboxylase activity during heme biosynthesis, resulting in accumulation of uroporphyrinogen [ 2,3 ] . With respect to hepatic porphyrias, a distinction is made between an acquired (sporadic) form -as in our patient -and a hereditary (familial) type; in addition, acute disease is distinguished from non-acute (chronic) disease [ 4,5 ] .…”

“…With respect to hepatic porphyrias, a distinction is made between an acquired (sporadic) form -as in our patient -and a hereditary (familial) type; in addition, acute disease is distinguished from non-acute (chronic) disease [ 4,5 ] . The sporadic form frequently has its onset between the age of 40 and 50 [ 2 ] . The characteristic bullous lesions predominantly occur in light-exposed areas, especially following exposure to UV light and in the presence of other trigger factors.…”