Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. (wikipedia.org)
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). (medscape.com)
Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. (nih.gov)
Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing. (nih.gov)
Porphyria is the common term for a group of syndromes, largely hereditary, that result from defects in porphyrins (the enzymes involved in heme synthesis). (medscape.com)
Acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and the familial form of porphyria cutanea tarda (PCT) follow an autosomal dominant inheritance pattern with low penetration. (medscape.com)
Quantitative stool studies help to differentiate between hereditary coproporphyria (HCP) and variegate porphyria (VP), because these disorders have identical urine porphyrin profiles. (medscape.com)
Patients with variegate porphyria and hereditary coproporphyria, with or without neurovisceral symptoms, may develop bullous eruptions especially on the hands, forearms, face, neck, or other areas of the skin exposed to sunlight. (msdmanuals.com)
Exposure to sunlight precipitates cutaneous symptoms in variegate porphyria and rarely also in hereditary coproporphyria. (msdmanuals.com)
two of these, Variegate Porphyria and Hereditary Coproporphyria, may also have skin symptoms of blistering after sun exposure. (porphyriafoundation.org)
There are four types of acute Porphyrias: Acute Intermittent Porphyria ( AIP ), Hereditary Coproporphyria ( HCP ), Variegate Porphyria ( VP ), and δ-aminolevulinic acid dehydratase (ALAD) Porphyria ( ADP ), which are characterized by episodes of debilitating attacks. (porphyriafoundation.org)
Approximately 80-90% of individuals who carry a gene mutation for Acute Intermittent Porphyria, Variegate Porphyria, and Hereditary Coproporphyria remain asymptomatic, and others may have only one or a few acute attacks throughout life. (porphyriafoundation.org)
Alnylam Act® is a sponsored, no-charge, third-party genetic testing and counseling program for patients with a family history or suspected diagnosis of hereditary ATTR (hATTR) amyloidosis, acute hepatic porphyria, or primary hyperoxaluria type 1. (alnylam.com)
All four types of AHP-acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficient porphyria (ADP)-are characterized by acute, potentially life-threatening attacks and in some patients, chronic debilitating symptoms that negatively impact patients' quality of life. (alnylam.com)
Acute porphyrias include acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and ALA dehydratase deficiency porphyria (ADP). (targetwoman.com)
The literature distinguishes between: Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP) and Aminolevulinic Dehydratic ADP (ADP) deficiency. (umk.pl)
The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehydratase. (medthority.com)
AHP is comprised of four subtypes, each resulting from a genetic defect leading to deficiency in one of the enzymes of the heme biosynthesis pathway in the liver: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and ALAD-deficiency porphyria (ADP). (alnylam.com)
Porphyrias1
Porphyrias can be hereditary-related or acquired through exogenous influences such as alcohol consumption or lead poisoning . (healthmatters.io)
Symptoms2
When accompanied by neurological or abdominal symptoms, hereditary coproporphyria should be considered in the differential diagnoses of unexplained neuropsychiatric symptoms such as confusion, hallucinations, anxiety and psychosis. (medscape.com)
Abstract - Background: Hereditary Coproporphyria (HCP) is characterized by abdominal pain, neurologic symptoms and psychiatric disorders, even if it might remain asymptomatic. (drexrx.com)
CPOX1
Barbaro M, Kotajärvi M, Harper P, Floderus Y. Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria. (medscape.com)
Disorder2
Genetic counseling is also crucial for affected individuals and their families due to the hereditary nature of the disorder. (targetwoman.com)
coproporphyrin III has also been linked to the inborn metabolic disorder hereditary coproporphyria. (foodb.ca)
Defects1
Defects in this gene are a cause of hereditary coproporphyria (HCP). (nih.gov)
Liver2
Haimowitz S, Hsieh J, Shcherba M, Averbukh Y. Liver failure after Hydroxycut™ use in a patient with undiagnosed hereditary coproporphyria. (medscape.com)
After an extensive workup, the etiology of the liver failure was determined to be due to hereditary coprophorphyria (HCP). (nih.gov)
Rare1
The autopsy pathologist found that Cameron's death may have been related to a rare blood disease called hereditary coproporphyria , which they later learned David, Melia and Sienna have too. (aftertalk.com)
Alcohol1
Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (613609) that are responsible for hereditary hemochromatosis (235200) (review by Lambrecht et al. (nih.gov)