Cholelithiasis in patients with variegate porphyria

Herrick, Ariane L.; Thompson, G. G.; Ford, G.; Mccoll, K. E. L.

doi:10.1016/0168-8278(91)90908-t

Cited by 8 publications

(6 citation statements)

References 5 publications

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“…The prevalence of cholelithiasis has been reported to increase in VP patients, and some patients exhibit chronic skin symptoms before cholelithiasis becomes apparent ( 8 ). It has been suggested that a disturbance of porphyrin excretion to bile due to cholestasis might cause increases in porphyrin accumulation.…”

Section: Discussionmentioning

confidence: 99%

Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient

et al. 2016

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Variegate porphyria (VP) is an autosomal dominant disease caused by mutations of the protoporphyrinogen oxidase (PPOX) gene. This porphyria has unique characteristics which can induce acute neurovisceral attacks and cutaneous lesions that may occur separately or together. We herin report a 58-years-old VP patient complicated with cholelithiasis. A sequencing analysis indicated a novel c.40G>C mutation (p.G14R) in the PPOX gene. His cutaneous photosensitivity had been worsening for 3 years before the emergence of cholecystitis and it then gradually improved after cholecystectomy and ursodeoxycholic acid treatment with a slight decline in the porphyrin levels in his blood, urine and stool. In VP patients, a worsening of photosensitivity can thus be induced due to complications associated with some other disease, thereby affecting their porphyrin-heme biosynthesis.

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Section: Discussionmentioning

confidence: 99%

Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient

et al. 2016

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“…Increased synthesis of these haemoproteins offers a possible mechanism for an increase in haem synthesis in response to sorbents. A steady state between hepatic porphyrin production, excretion and tissue depletion has been suggested, 11 and it is possible that by removing porphyrin from this pool, an equilibrium is disturbed with a consequent increase in porphyrin synthesis. The trend towards an increase in the ALA and PBG concentrations may support the possibility of an absolute increase in porphyrin synthesis following charcoal administration.…”

Section: Discussionmentioning

confidence: 99%

Administration of oral activated charcoal in variegate porphyria results in a paradoxical clinical and biochemical deterioration

et al. 2003

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“…Enzyme assays in erythrocytes or other cells or tissues are helpful in supporting the diagnosis but are best used to identify family members with latent disease (6,7,14,22,32,62). The demonstration of decreased cellular enzyme activity proves the presence of the genetic defect but by itself is insufficient for implicating porphyria as the cause of a particular patient's symptoms (1,6,14).…”

Section: Other Diagnostic Methodsmentioning

confidence: 99%

“…However, variegate porphyria is specifically distinguished by a deficiency of protoporphyrinogen oxidase, which leads to accumulation of both protoporphyrinogen and protoporphyrin in bile and feces (1, 2, 5, 7, 23, 31, 40-42, 47, 53, 61). In variegate porphyria, the preponderant stool porphyrin is protoporphyrin (6,40,62), with concentrations ranging from 3 to 7 times the normal value (53). Hereditary coproporphyria also has a distinct stool porphyrin pattern.…”

Section: Diagnostic Algorithmmentioning

confidence: 99%

“…If the latter occurs, either diagnosis becomes particularly difficult to make because in neuroporphyrias, concentrations of stool porphyrins remain normal both during and between acute attacks (5-7, 13, 53, 56). In the neurocutaneous porphyrias (variegate porphyria and hereditary coproporphyria), the situation is less complicated: levels of urine porphobilinogen and aminolevulinic acid are often normal between attacks, but levels of stool porphyrins are always increased, both during and between attacks (1,3,6,7,13,34,40,42,53,62,63).…”

Section: Diagnostic Algorithmmentioning

confidence: 99%

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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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Cholelithiasis in patients with variegate porphyria

Cited by 8 publications

References 5 publications

Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient

Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient

Administration of oral activated charcoal in variegate porphyria results in a paradoxical clinical and biochemical deterioration

Acute Porphyrias: A Case Report and Review

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