LOINC display name : Porphyrin fractions panel (Stl) [Molar fraction];
LOINC long common name : Porphyrin fractions panel - Stool;
LOINC short name : Porphyrin Fract Pnl SFr Stl;
LOINC description : Determination of porphyrin profile in stool is performed to evaluate porphyria. Total
fecal porphyrins are markedly increased especially in active HCP (Hereditary Coproporphyria)
and VP (Variegate Porphyria) and to a lesser extent in PCT (Porphyria Cutanea Tarda)
and EPP (Erythropoietic Protoporphyria). Porphyrins with 2-4 carboxyl groups generally
predominate in feces. As with urine, it is most useful to measure the total amount
of porphyrins in a fecal sample. If increased, then the laboratory may determine which
porphyrins predominate to identify the presence and nature of the porphyrin defect.
A summary of the different porphyria disorders, the genes where mutations occur and
the associated symptoms is given in: http://www.porphyria-europe.com/02-for-healthcare/the-porphyrias.asp.;