Diagnosis and management of the erythropoietic porphyrias

Abstract

The erythropoietic porphyrias are erythropoietic protoporphyria, and congenital erythropietic porphyria. Diagnosis is made based on clinical manifestations, and their characteristic porphyrin profiles. There are multiple treatment options for these two porphyrias, however, aside from bone marrow transplant for CEP, none is curative.

Porphyrin profiles in blood, urine and faeces by HPLC/electrospray ionization tandem mass spectrometry

“…Figure 7 shows the porphyrin extracted from the red blood cells of a patient with erythrohepatic protoporphyria (EHP) or erythropoietic protoporphyria (EPP). This condition, due to ferrochelatase defect (Elder, 1998a), is characterized by the increase excretion of faecal proto- porphyrin and the presence of a high concentration of protoporphyrin (m/z 563) in the blood, particularly in the red cells (Thunell et al, 2000;Murphy, 2003).…”

Eryhtropoietic Protoporphyria

“…2 However, it is very difficult to suspect EPP if clinical manifestation are minimum. The characteristics of photosensitivity in EPP are first a burning, stinging sensation appearing immediately at sun exposure followed by erythema, edema and purpura.…”

“…2,9 Excess PP with any origin is excreted by the liver into bile and enters an enterohepatic circulation. 10 Excess PP becomes insoluble in bile and exerts cholestatic effects, structural changes from mild inflammation to fibrosis and cirrhosis.…”

“…Many patients with EPP have an apparent mild anemia with a microcytic hypochromic blood film. 2 However, administration of iron is not recommended since iron sometimes exacerbate the porphyria.…”

Paralytic Ileus and Liver Failure—An Unusual Presentation of Advanced Erythropoietic Protoporphyria

“…It is characterized by light-sensitive dermatitis (usually developing during childhood). Erosions on the face, healing with scars, or waxy thickening of the skin of the nose and knuckles may ensue [4][5][6].…”