Porphyria hereditary coproporphyria

This group includes acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. 

Porphyria maybe classified as hepatic or erythropoietic. However, enzyme defects are sometimes common to both tissues. Porphyrias can be induced by alcohol, stress, infection, starvation, hormonal changes (e.g., menstruation), and certain drugs. These drugs presumably precipitate acute manifestations in susceptible subjects since they are inducers of cytochrome P-450 and increase the need for synthesis of heme as they deplete the mitochondrial pool of free heme. Major hepatic porphyrias include acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and porphyria cutanea tarda. The principal erythropoietic porphyrias are hereditary erythropoietic porphyria and erythropoietic protoporphyria. 

Forms of porphyria include ALAS deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. 

Acute intermittent porphyria Hereditary coproporphyria Porphyria variegata... 

Porphyria cutanea tarda (hepatic) (MIM 176100) Hereditary coproporphyria (hepatic) (MIM 121300)... 

CEP congenital erythropoietic porphyria, coproporphyrin, EPP erythropoietic protoporphyria, HC hereditary coproporphyria,... 

Olanzapine caused increased transaminases in a 38-year-old man with hereditary coproporphyria the enzyme changes were not associated with symptoms or evidence of either acute liver failure or exacerbation of his porphyria (230). 

In Table 32-4 the porphyrias are divided into the acute porphyrias, in which acute neurovisceral attacks occur, and the nonacute porphyrias. Other classifications include division into hepatic (acute intermittent porphyria (AIP], hereditary coproporphyria [HOP], variegate porphyria [VP], and PCT) and erythropoietic (congenital erythropoietic porphyria [CEP], erytliropoietic protoporphyria [EPP]) porphyrias according to the main site of overproduction of... 

Figure 32-4 Representative HPLC chromatograms for (a) working standard b, norma) feces c, normal urine d, feces—hereditary coproporphyria e, urine—congenita erythropoietic porphyria f, feces—variegata porphyria g, urine—porphyria cutanea tarda and h, feces—porphyria cutanea tarda chromatographic conditions as described in the appendix on the Evolve site that accompanies this book. Peaks are I, uroporphyrin- 2, uroporphyrin-l 3, heptacarboxyiate porphyrin-l 4, heptacarboxylate porphyrin-tl 5, hexacarboxylate porphyrin 6, pentacarboxylate porphyrin 7, coproporphyrin-1 8, coproporphyrin- ll 9, deuteroporphyrin-IX ...

Figure 44-3. Heme biosynthetic pathway and characteristics associated with specific enzyme-deficiency porphyrias. ADP = ALA dehydratase deficiency porphyria AIP = acute intermittent porphyria CEP = congenital erythropoietic porphyria PCT = porphyria cutanea tarda HEP = hepatoerythropoietic porphyria HCP = hereditary coproporphyria VP = variegate porphyria EPP = erythropoietic protoporphyria.

The three autosomal dominant diseases, acute intermittent porphyria (31.2) [1, 4], variegate porphyria (31.6) and hereditary coproporphyria (31.5) share a common symptomatology (Tables 31.3.1/31.3.2). Affected individuals suffer from acute attacks of severe, colicky, abdominal pain, mostly of several days duration and combined with nausea, vomiting, obstipation and subileus. Tachycardia and hypertension is often present too. Within a few days these symptoms may spontaneously subside or they may progress as well to a predominant motor neuropathy, disturbance of electrolyte balance (hyponatremia, hypomagnesemia), seizures, confusion and coma. 

In variegate porphyria, plasma is analysed for the presence of a specific fluorescence emission peak at 626 nm, that is thought to be the most sensitive test for latent mutation carrier detection besides the DNA analysis, which has just recently become available [8, 9]. In the case of hereditary coproporphyria, fecal porphyrin analysis is the best available test, but with an unknown sensitivity. Also here, there is limited experience with DNA analysis that is conducted in a few specialized laboratories recently [10]. 

Table 31 3 2 The acute porphyrias, acute-intermittent porphyria (51 2), porphyria variegata (31.6) and hereditary coproporphyria (31.5), during latent phases ...

In three of the hereditary hepatic porphyrias, acute intermittent porphyria, porphyria variegata [64], and hereditary coproporphyria [65, 66] neurological abnormalities are recognized, of varying character and severity, and similar changes are described in a minority of cases of acquired hepatic porphyrias. 

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