Clinical and Laboratory Diagnosis of the Porphyrias

Anderson, Karl E.

doi:10.1142/9789814407755_0034

Cited by 2 publications

(5 citation statements)

References 159 publications

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“…Acute attacks are often associated with use of certain medications, caloric deprivation, and luteal-phase increases in progesterone. About 20% of those with an acute attack report photosensitivity, although bullae and skin fragility are much less common than in VP (Anderson et al, 2005;Anderson, 2014; also see http://www.porphyriafoundation.com/testingfor-porphyria). Of 46 individuals tested in Germany with acute HCP, 90% had abdominal pain; only 13% had cutaneous findings despite substantial overproduction of coproporphyrin (Kühnel et al, 2000).…”

Section: Clinical Features Of Hcpmentioning

confidence: 99%

“…Many individuals who inherit AIP, HCP, and VP never have clinical manifestations. However, because porphyric attacks can be severe and life threatening, early diagnosis of carriers and affected individuals is important, so they can be educated to avoid factors that can trigger acute attacks, such as certain drugs, alcohol, and fasting (Anderson, 2003(Anderson, , 2014; also see http://www.porphyriafoundation.com/testingfor-porphyria).…”

Section: Acute Hepatic Porphyriasmentioning

confidence: 99%

“…Although these are normal body chemicals, such accumulation is not normal. Precisely which of these chemicals builds up depends on the type of porphyria (Anderson et al, ; Anderson, , ; Desnick et al, ).…”

Section: Introductionmentioning

confidence: 99%

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Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

2015

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The porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by the excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), delta-aminolevelunic acid dehyratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), hepatoerythropoetic porphyria (HEP), congenital erythropoetic porphyria (CEP), erythropoetic protoporphyria (EPP), and X-linked protoporphyria (XLP). Each porphyria results from overproduction of heme precursors secondary to partial deficiency or, in XLP, increased activity of one of the enzymes of heme biosynthesis. Taken together, all forms of porphyria afflict fewer than 200,000 people in the United States. Based on European studies, the prevalence of the most common porphyria, PCT, is 1 in 10,000, the most common acute porphyria, AlP, is about 1 in 20,000, and the most common erythropoietic porphyria, EPP, is estimated at 1 in 50,000 to 75,000. CEP is extremely rare with prevalence estimates of 1 in 1,000,000 or less. Only 6 cases of ADP are documented. The current porphyria literature is very exhaustive and a brief overview of porphyria diseases is essential in order for the reader to better appreciate the relevance of this area of research prior to undertaking biochemical diagnostics procedures. This unit summarizes the current knowledge on the classification, clinical features, etiology, pathogenesis, and genetics of these porphyria diseases.

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Section: Clinical Features Of Hcpmentioning

confidence: 99%

Section: Acute Hepatic Porphyriasmentioning

confidence: 99%

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Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

2015

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“…All porphyrias are characterized by the accumulation and excretion of porphyrins or porphyrin precursors, though each type has disparate clinical manifestations (including neurovisceral and/or cutaneous symptoms) depending upon which enzyme of the pathway is defective 10 . In general, neurological disturbances are manifested in the form of acute attacks (e.g., extreme abdominal and chest pain, vomiting, confusion, constipation, fever, high blood pressure, low blood sodium levels, and seizures), while photosensitivity is at the root of cutaneous manifestations (e.g., skin blistering, redness, scarring, and pain when exposed to the sun) 3, 9, 11, 12 . Suggested treatments and disease-outcomes also vary with the particular pathway-defect 10, 13– 19 .…”

Section: Introductionmentioning

confidence: 99%

“…Acute porphyrias can prevail undiagnosed for 10–15 years following the onset of symptoms 19 . Perhaps not surprisingly, diagnosis of porphyrias remains challenging: they are rare, and their symptoms are nonspecific, often mimicking other, more common disorders 11 . Thus once porphyria clinical symptoms are recognized, biochemical laboratory testing should be performed to identify the specific type of porphyria 10 .…”

Section: Introductionmentioning

confidence: 99%

Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich’s ataxia, and other rare iron-related diseases

et al. 2019

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Background: Basic and clinical scientific research at the University of South Florida (USF) have intersected to support a multi-faceted approach around a common focus on rare iron-related diseases. We proposed a modified version of the National Center for Biotechnology Information’s (NCBI) Hackathon-model to take full advantage of local expertise in building “Iron Hack”, a rare disease-focused hackathon. As the collaborative, problem-solving nature of hackathons tends to attract participants of highly-diverse backgrounds, organizers facilitated a symposium on rare iron-related diseases, specifically porphyrias and Friedreich’s ataxia, pitched at general audiences. Methods: The hackathon was structured to begin each day with presentations by expert clinicians, genetic counselors, researchers focused on molecular and cellular biology, public health/global health, genetics/genomics, computational biology, bioinformatics, biomolecular science, bioengineering, and computer science, as well as guest speakers from the American Porphyria Foundation (APF) and Friedreich’s Ataxia Research Alliance (FARA) to inform participants as to the human impact of these diseases. Results: As a result of this hackathon, we developed resources that are relevant not only to these specific disease-models, but also to other rare diseases and general bioinformatics problems. Within two and a half days, “Iron Hack” participants successfully built collaborative projects to visualize data, build databases, improve rare disease diagnosis, and study rare-disease inheritance. Conclusions: The purpose of this manuscript is to demonstrate the utility of a hackathon model to generate prototypes of generalizable tools for a given disease and train clinicians and data scientists to interact more effectively.

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Clinical and Laboratory Diagnosis of the Porphyrias

Cited by 2 publications

References 159 publications

Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich’s ataxia, and other rare iron-related diseases

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