Hereditary Coproporphyria
- Author: Thomas G DeLoughery, MD; Chief Editor: Emmanuel C Besa, MD more...
Background
Coproporphyria is one of the porphyrias, a group of diseases that involves defects in heme metabolism and that results in excessive secretion of porphyrins and porphyrin precursors. Coproporphyria manifests with abdominal pain, neuropathies, constipation, and skin changes.
Recent research
In a retrospective analysis of 467 patients, Whatley et al examined the diagnostic accuracy of plasma fluorescence scanning, fecal porphyrin analysis, and porphobilinogen deaminase (PBGD) assay in differentiating between coproporphyria, acute intermittent porphyria (AIP), and variegate porphyria (VP).[1, 2] The authors determined that the specificity and sensitivity of the fecal coproporphyrin isomer ratio and of the fluorescence emission peak's wavelength were great enough to differentiate between the 3 conditions. They also found that in mutation-negative patients, the accuracy of deoxyribonucleic acid (DNA) analysis followed by PBGD assay was greater than that for either test individually, in the diagnosis or exclusion of AIP.
Pathophysiology
Coproporphyria is an autosomal dominant disease that results from defects in the enzyme coproporphyrinogen oxidase. This enzyme speeds the conversion of coproporphyrinogen to protoporphyrinogen. In coproporphyria, the porphyrin precursors porphobilinogen and amino-levulinic acid (ALA) accumulate, as well as the formed porphyrin coproporphyrin. The predominant problem is neurologic damage that leads to peripheral and autonomic neuropathies and the psychiatric manifestations. In coproporphyria, skin disease also is present but not as commonly as the neurovisceral symptoms.
The etiology of the skin disease may be the deposition of formed porphyrins in the skin that react with sunlight and lead to skin damage. Although patients with acute neurovisceral attacks always have elevations of porphobilinogen and ALA, researchers still are unclear about how this leads to the symptomatic disease because most patients with the genetic defect have excessive porphyrin secretion but no symptoms.[3]
Epidemiology
Frequency
United States
Coproporphyria is 20 times less common (ie, 1-4 cases per 1,000,000 people) than AIP.
Mortality/Morbidity
Researchers feel that coproporphyria is a less severe disease than AIP, but deaths have been reported in improperly treated cases.
Sex
Researchers feel that women with coproporphyria tend to be symptomatic more than men are, but the data are sparse.
Age
Most patients with porphyria become symptomatic at age 18-40 years. Attacks are rare before puberty or after age 40 years.
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Anderson KE. The Porphyrias. In: Zakim D, Boyer TD, eds. Hepatology: A Textbook of Liver Disease. Philadelphia, Pa:. WB Saunders;1996:417-463.
Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. Mar 15 2005;142(6):439-50. [Medline].
Bickers DR, Pathak MA, Lim HW. The Porphyrias. In: Fitzpatrick B, et al, eds. Dermatology in General Medicine. New York, NY:. McGraw-Hill, Inc;1993:1854-1893.
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| *Bracketed [] drugs are those in which experimental evidence of porphyrin genicity is conflicting. | |||
| Alcuronium *Alphaxalone Alphadolone Alprazolam Aluminium Preparations Amidopyrine Aminoglutethimide Aminophylline Amiodarone *Amitriptyline [Amphetamines] *Amylobarbitone Antipyrine *Auranofin *Aurothiomalate Azapropazone Baclofen *Barbiturates *Bemegride Bendrofluazide Benoxaprofen Benzbromarone [Benzylthiouracil] [Bepridil] Bromocriptine Busulphan *Butylscopolamine Captopril *Carbamazepine *Carbromal *Carisoprodol [Cefuroxime] [Cephalexin] [Cephalosporins] [Cephradine] [Chlorambucil] *Chloramphenicol *Chlordiazepoxide *Chlormezanone Chloroform *Chlorpropamide Cinnarizine Clemastine [Clobazam] [Clomipramine HCl] [Clonazepam] Clonidine HCl *Clorazepate Cocaine [Colistin] Co-trimoxazole | Cyclophosphamide Cycloserine Cyclosporin Danazol *Dapsone Dexfenfluramine Dextropropoxyphene Diazepam *Dichloralphenazone *Diclofenac Na Dienoestrol Diethylpropion Dihydralazine *Dihydroergotamine Diltiazem *Dimenhydrinate *Diphenhydramine [Dothiepin HCl] Doxycycline *Dydrogesterone *Econazole NO3 *Enalapril Enflurane *Ergot compounds Ergometrine maleate Ergotamine tartrate *Erythromycin *Estramustine Ethamsylate *Ethanol Ethionamide *Ethosuximide *Ethotoin Etidocaine Etomidate Fenfluramine *Flucloxacillin *Flufenamic acid Flunitrazepam Flupenthixol Flurazepam *Frusemide *Glibenclamide *Glutethimide *Glipizide Gramicidin *Griseofulvin [Haloperidol] *Halothane *Hydantoins *Hydralazine *Hydrochlorothiazide *Hydroxyzine Hyoscine *Imipramine Iproniazid Isometheptene mucate [Isoniazid] Kebuzone Ketoconazole *Levonorgestrel Lignocaine *Lisinopril Loprazolam Loxapine *Lynestrenol Lysuride | Maleate Maprotiline HCl Mebeverine HCl *Mecillinam *Medroxyprogesterone [Mefenamic acid] Megestrol acetate *Mephenytoin Mepivacaine *Meprobamate Mercaptopurine Mercury compounds Mestranol [Metapramine HCl] Methamphetamine Methohexitone Methotrexate Methoxyflurane Methsuximide *Methyldopa *Methylsulphonal *Methyprylone Methysergide *Metoclopramide Metyrapone Mianserin HCl Miconazole [Mifepristone] Minoxidil *Nandrolone *Nalidixic acid Natamycin *Nandrolone [Nicergoline] *Nifedipine *Nikethamide Nitrazepam *Nitrofurantoin Nordazepam Norethynodrel *Norethisterone [Nortriptyline] Novobiocin *Oral contraceptives *Orphenadrine Oxanamide [Oxazepam] Oxybutynin HCl Oxycodone *Oxymetazoline *Oxyphenbutazone Oxytetracycline Paramethadione Pargyline *Pentazocine Perhexiline Phenacetin Phenelzine *Phenobarbitone Phenoxybenzamine *Phensuximide *Phenylbutazone Phenylhydrazine *Phenytoin Pipebuzone Pipemidic Acid Piritramide *Piroxicam | *Pivampicillin *Pivmecillinam Prazepam Prenylamine *Prilocaine *Primidone [Probenecid] *Progesterone Progabide Promethazine [Propanidid] *Pyrazinamide Pyrrocaine Quinalbarbitone Rifampicin Simvastatin Sodium aurothiomalate Sodium oxybate [Sodium valproate] *Spironolactone Stanozolol Succinimides *Sulfacetamide *Sulfadiazine *Sulfadimidine *Sulfadoxine *Sulfamethoxazole *Sulfasalazine *Sulfonylureas Sulfinpyrazone Sulpiride Sulthiame Sultopride *Tamoxifen *Terfenadine Tetrazepam *Theophylline *Thiopentone Na Thioridazine Tilidate Tinidazole *Tolazamide *Tolbutamide Tranylcypromine Trazodone HCl Trimethoprim [Trimipramine] Troxidone Valproate Valpromide Veralipride *Verapamil *Vibramycin Viloxazine HCl [Vinblastine] [Vincristine] Zuclopenthixol |
| *These drugs have been associated with acute attacks of porphyria. †Bracketed [] drugs are those in which experimental evidence of porphyringenicity is conflicting. | |||
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