Coproporphyria hereditaria E80.2

Berger and Goldberg, 1955

Rare form of autosomal dominant inherited hepatic porphyria. S.a. Coproporphyria symptomatica.

Prevalence: 0.1-0.4/100,000 inhabitants.

Autosomal-dominantly inherited mutations of the CPO gene (coproporphyrinogen oxidase gene; gene locus: 3q12), which leads to a partial insufficiency of coproporphyrinogen oxidase.

Very rarely before puberty; mostly 18th-40th LJ. Neonatal-onset is described sporadically in casuistics.

Cutaneous and neurovisceral symptoms.

• Integument: Reddish-livid, succulent, itchy infiltrates or persistent, livid erythema and blistering of the back of the hand after sun exposure. S.u. Porphyria cutanea tarda.
• Extracutaneous manifestations: including colicky epigastric abdominal pain (often lasting several days). Frequent tachycardia, high blood pressure and neurological dysfunctions such as seizures, visual disturbances or motor neuropathies that usually start in the lower extremity. Rare: Interstitial nephritis.

Large amounts of coproporphyrin III in stool and urine.

Therapy of acute symptoms, see below Porphyria syndrome, acute. Prophylactic textile and chemical/physical light protection (see also light protection agents), if necessary reversal of the day-night rhythm. S.a. Porphyria cutanea tarda.

1. Berger H, Goldberg A (1955) Hereditary coproporphyria. BMJ 2: 85-88
2. Gross U et al (2002) A molecular, enzymatic and clinical study in a family with hereditary coproporphyria. J Inherit Metab Dis 25: 279-286
3. Kuhnel A et al (2000) Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients. Clin Biochem 33: 465-473
4. Lecha M et al (2003) Diagnosis and treatment of the hepatic porphyrias. Dermatol Ther 16: 65-72
5. Takeuchi H et al (2001) Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism. Blood 98: 3871-3373