Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Porphyrias [E80.2]

Dipl.-Biol. Birgit Busse

Scientific Background

Porphyrias are caused by enzymatic defects in heme biosynthesis, which result in accumulation and storage of intermediate products in the tissues. Depending on the type of porphyria and exposure to noxious substances, abdominal, neurological and/or cutaneous signs and symptoms occur.

Acute porphyrias:

The main symptom is an abdominal colic that is triggered by alcohol, fasting or medication. The frequency of acute intermittent porphyria is 1:10,000 in Western Europe.

Chronic porphyrias:

The main symptoms affect the skin and are caused by cutaneous accumulation of heme precursors leading to increased light sensitivity. Sun exposure causes skin damage, ranging from mild blistering to severe burns and mutilation.

Since it is often impossible to assign the disease type clearly based on clinical symptoms, a metabolite profile from a urine sample can be used to draw conclusions on the type of porphyria. Genetic diagnostics can confirm the diagnosis and provide information on carrier status.

Literature

All In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019: Wang B, Bissell DM. Hereditary Coproporphyria. 2012 Dec 13 [Updated 2018 Nov 8] / Balwani M, Bloomer J, Desnick R; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. Erythropoietic Protoporphyria, Autosomal Recessive. 2012 Sep 27 [Updated 2017 Sep 7] / Liu LU, Phillips J, Bonkovsky H; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Hepatoerythropoietic Porphyria. 2013 Oct 31 [Updated 2016 Dec 22] / Balwani M, Bloomer J, Desnick R; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. X-Linked Protoporphyria. 2013 Feb 14. / Singal AK, Anderson KE. Variegate Porphyria. 2013 Feb 14. / Whatley SD, Badminton MN. Acute Intermittent Porphyria. 2005 Sep 27 [Updated 2013 Feb 7]