Table 4. [Other Types of Porphyria in the Differential Diagnosis of Hepatoerythropoietic Porphyria]. - GeneReviews®

Gene	Disorder	MOI	Skin Lesions	Distinguishing Features / Comment
CPOX	Hereditary coproporphyria (HCP)	AD	Blistering skin lesions closely resembling lesions of CEP	HCP, an acute hepatic porphyria, is generally accompanied by neurovisceral features, esp bouts of severe abdominal pain, which are not observed in HEP. Development of blistering skin disease is uncommon in HCP, whereas it is present & severe in HEP. Mild manifestations of HEP can be mistaken for HCP. ↑ in zinc protoporphyrin is seen in HEP & not in HCP. In CEP fecal porphyrin levels of coproporphyrin III are significantly ↑.
PPOX	Variegate porphyria (VP)	AD	Blistering skin lesions are nearly identical to those in HEP. Cutaneous manifestations in HEP are chronic & blistering (like in VP) but are usually more severe than those of VP, because circulating porphyrin levels in HEP are usually much higher than in VP.	VP is a cutaneous & acute porphyria & can present w/cutaneous manifestations &/or acute attacks of neurovisceral manifestations similar to AIP. Plasma porphyrin fluorescence scanning of diluted plasma at neutral pH w/peak wavelength ~626 nm is seen w/VP. This is very useful in differential diagnosis. In PCT & HEP, peak emission wavelength is ~619-622 nm.
UROD	Familial porphyria cutanea tarda (F-PCT)	AD	Skin lesions resemble those of HEP but are less severe & typically begin later, in the 5th or 6th decade of life.	Because laboratory findings in F-PCT & HEP can be clinically indistinguishable at time of diagnosis, molecular genetic testing is necessary to discriminate between these disorders. Measurement of UROD enzyme activity is not an accurate method to distinguish between F-PCT & HEP.
UROS GATA1	Congenital erythropoietic porphyria (CEP)	AR XL ¹	The skin lesions of CEP, like those seen in HEP, appear early in life (i.e., in infancy or childhood) & are severe & mutilating.	In both CEP (a cutaneous, erythropoietic porphyria) & HEP, ↑ severity is attributed to plasma concentration of porphyrin. Although CEP can be mistaken for HEP, urine porphyrin analysis (which shows marked ↑ in uroporphyrin & coproporphyrin type I in CEP) helps exclude other cutaneous porphyrias. Fecal analysis may be necessary, particularly for persons w/late onset.

Gene

Disorder

MOI

Skin Lesions

Distinguishing Features / Comment

CPOX

Hereditary coproporphyria (HCP)

Blistering skin lesions closely resembling lesions of CEP

HCP, an acute hepatic porphyria, is generally accompanied by neurovisceral features, esp bouts of severe abdominal pain, which are not observed in HEP. Development of blistering skin disease is uncommon in HCP, whereas it is present & severe in HEP. Mild manifestations of HEP can be mistaken for HCP.
↑ in zinc protoporphyrin is seen in HEP & not in HCP. In CEP fecal porphyrin levels of coproporphyrin III are significantly ↑.

PPOX

Variegate porphyria (VP)

Blistering skin lesions are nearly identical to those in HEP. Cutaneous manifestations in HEP are chronic & blistering (like in VP) but are usually more severe than those of VP, because circulating porphyrin levels in HEP are usually much higher than in VP.

VP is a cutaneous & acute porphyria & can present w/cutaneous manifestations &/or acute attacks of neurovisceral manifestations similar to AIP.
Plasma porphyrin fluorescence scanning of diluted plasma at neutral pH w/peak wavelength ~626 nm is seen w/VP. This is very useful in differential diagnosis. In PCT & HEP, peak emission wavelength is ~619-622 nm.

UROD

Familial porphyria cutanea tarda (F-PCT)

Skin lesions resemble those of HEP but are less severe & typically begin later, in the 5th or 6th decade of life.

Because laboratory findings in F-PCT & HEP can be clinically indistinguishable at time of diagnosis, molecular genetic testing is necessary to discriminate between these disorders. Measurement of UROD enzyme activity is not an accurate method to distinguish between F-PCT & HEP.

UROS
GATA1

Congenital erythropoietic porphyria (CEP)

AR
XL ¹

The skin lesions of CEP, like those seen in HEP, appear early in life (i.e., in infancy or childhood) & are severe & mutilating.

In both CEP (a cutaneous, erythropoietic porphyria) & HEP, ↑ severity is attributed to plasma concentration of porphyrin. Although CEP can be mistaken for HEP, urine porphyrin analysis (which shows marked ↑ in uroporphyrin & coproporphyrin type I in CEP) helps exclude other cutaneous porphyrias. Fecal analysis may be necessary, particularly for persons w/late onset.

From: Hepatoerythropoietic Porphyria

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.