Variegate Porphyria: Past, Present and Future

Frank, Jorge; Christiano, Angela M.

doi:10.1159/000029854

Cited by 30 publications

(46 citation statements)

References 53 publications

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“…Like in the other cutaneous porphyrias, the use of sunscreens and avoidance of direct sunlight exposure may be important if skin symptoms prevail. Phlebotomy does not exert any positive effects in the neurocutaneous porphyrias [7,13] .…”

Section: Current Therapymentioning

confidence: 89%

The Porphyrias: Clinic, Diagnostics, Novel Investigative Tools and Evolving Molecular Therapeutic Strategies

Serooskerken¹,

Poblete‐Gutiérrez²,

Frank³

2010

Skin Pharmacol Physiol

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The porphyrias are clinically and genetically heterogeneous metabolic disorders resulting from a predominantly hereditary dysfunction of specific enzymes involved in heme biosynthesis. Today, the clinical, biochemical, and genetic characteristics of this fascinating group of diseases are well established. Recently, different in vitro and animal models have facilitated the investigation of etiopathologic mechanisms in the different types of porphyria and the development of causal treatment strategies such as pathway interference, enzyme replacement, and gene therapy. The continuous progress in basic science has made an invaluable contribution to the rapid translation of discoveries made in the laboratory into new diagnostics and therapeutics in the near future.

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Section: Current Therapymentioning

confidence: 89%

The Porphyrias: Clinic, Diagnostics, Novel Investigative Tools and Evolving Molecular Therapeutic Strategies

Serooskerken¹,

Poblete‐Gutiérrez²,

Frank³

2010

Skin Pharmacol Physiol

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“…Because the clinical course can vary from acute, self-limiting attacks to attacks that result in chronic or progressive deficits (1,37), the attacks may mimic many other psychiatric or medical disorders, making the potential for misdiagnosis great (1,4,16,34,35,37,38). The four acute porphyrias are clinically indistinguishable during acute attacks (1,3,4,6,7,15,17,34,(39)(40)(41)(42), particularly because patients with variegate porphyria and hereditary coproporphyria may not exhibit dermatologic changes (1,4,6,7,34,37,40,43). Skin lesions accompany acute attacks in about one-half of the patients with variegate porphyria and in about one-third of the patients with hereditary coproporphyria (4,40,42).…”

Section: General Backgroundmentioning

confidence: 99%

Acute Porphyrias: A Case Report and Review

Gonzalez-Arriaza¹,

Bostwick²

2003

AJP

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As befits a hematologic class of disorders, the word "porphyria" derives from the Greek word porphuros, which means red or purple (1). The porphyrias (Table 1 and Table 2) are a group of rare metabolic disorders arising from reduced activity of any of the enzymes in the heme biosynthetic pathway. The disorders may be either acquired (for instance, through a toxin acting on one of the enzymes) or inherited through a genetic defect in a gene encoding these enzymes. These deficiencies disrupt normal heme production, with symptoms especially prominent when increased heme is required. Porphyrin precursors, overproduced in response to synthetic pathway blockages, accumulate in the body (1-31), cause diverse pathologic changes, and become the basis for diagnostic tests.In this review we focus on the two neuroporphyrias (acute intermittent porphyria and plumboporphyria) and the two neurocutaneous porphyrias (hereditary coproporphyria and variegate porphyria). These four entities, of all the porphyrias, are the only ones with neuropsychiatric manifestations. We use a case of variegate porphyria to illustrate how the manifestations may be broad, the relevance in neuropsychiatric disorders overlooked, and the diagnosis unsuspected. Given the variable and nonspecific clinical features, we emphasize the need to carefully interpret excretion patterns and concentrations of porphyrin precursors in urine and stool to make a specific diagnosis. The workup of any potential case needs to be individualized, taking into consideration both the history and the symptoms at the time of evaluation. We discuss the complexities of making a diagnosis of porphyria. Without carefully gathering a history and having a clear understanding of what laboratory tests can and cannot show, making the diagnosis will be delayed, possibly resulting in increased morbidity and use of medical and financial resources. When evaluating complicated neuropsychiatric cases of uncertain cause, we advocate maintaining a high degree of awareness for porphyria. Case PresentationMr. A, a 47-year-old, married, male florist with no significant previous medical or psychiatric history, presented to a local neurologist with a 3-month history of symptoms of apparent neurologic origin. He had had progressive loss of memory and concentration, spells of confusion, and indeterminate jerking spasms of the upper extremities and facial muscles that lasted only seconds but occurred up to 30 times per day. The neurologic examination was normal; the neurologist did not make a specific diagnosis but did prescribe nefazodone, an antidepressant.A few weeks later, psychiatric symptoms developed that were serious enough to warrant admission to a local hospital. Mr. A had paranoid delusions and auditory hallucinations. He heard animals in his room and thought the police wanted to harm him. He had hyponatremia, so before his transfer to the psychiatric ward, an internist evaluated him but offered no specific explanation for the hyponatremia. A psychiatric mood disorder was diagnosed, and Mr...

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“…Nachfolgend stellen wir die klinischen, biochemischen, enzymatischen, molekulargenetischen und therapeutischen Besonderheiten der beiden neurokutanen Porphyrien vor. [1,5]. Die neuroviszeralen Symptome im Rahmen einer akuten Porphyrieattacke umfassen bei fast allen betroffenen Patienten diffuse, kolikartige Bauchschmerzen (95 %), Übelkeit und Erbrechen (80 %) sowie Obstipation (75 %), was nicht selten zu der Fehldiagnose "akutes Abdomen" mit konsekutiver explorativer Laparotomie führt.…”

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“…Die neuroviszeralen Symptome im Rahmen einer akuten Porphyrieattacke umfassen bei fast allen betroffenen Patienten diffuse, kolikartige Bauchschmerzen (95 %), Übelkeit und Erbrechen (80 %) sowie Obstipation (75 %), was nicht selten zu der Fehldiagnose "akutes Abdomen" mit konsekutiver explorativer Laparotomie führt. Die weiteren neurologischen und psychiatrischen Veränderungen (50-60 %) sind in ihrer klinischen Ausprägung sehr variabel und beinhalten motorische und sensorische Störungen, Hirnnervenbeteiligung und generalisierte Krampfanfälle [1,5].…”

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Neurokutane Porphyrien

Frank

2016

Hautarzt

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Porphyrias comprise a heterogeneous group of predominantly genetically determined metabolic diseases which are due to a dysfunction in heme biosynthesis. Variegate porphyria and hereditary coproporphyria are referred to as neurocutaneous porphyrias because affected patients can develop both cutaneous symptoms on light-exposed body sites and potentially life-threatening acute neurovisceral symptoms, thereby mimicking several other diseases. In this overview, we provide an update on pathogenesis, clinical manifestation, diagnosis, and therapy of these two types of porphyria.

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Variegate Porphyria: Past, Present and Future

Cited by 30 publications

References 53 publications

The Porphyrias: Clinic, Diagnostics, Novel Investigative Tools and Evolving Molecular Therapeutic Strategies

The Porphyrias: Clinic, Diagnostics, Novel Investigative Tools and Evolving Molecular Therapeutic Strategies

Acute Porphyrias: A Case Report and Review

Neurokutane Porphyrien

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