The Porphyrias: Characteristics and Laboratory Tests [corrected title]

Ellefson, Ralph D.; Ford, Roddey E.

doi:10.1006/rtph.1996.0087

Cited by 15 publications

(10 citation statements)

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“…Some researchers contend, however, that MCS does not follow the same pattern as immunologic disorders (Ziem 1992), which has led other researchers to examine the connection between MCS and immune dysfunction linked to the neuroendocrine system (Meggs 1992). It also has been suggested that inflammation of the respiratory tract (Meggs 1995) and disorders such as porphyria are potential causative factors (Ellefson and Ford 1996) a Respondents who answered "not sure" or "refuse" were not included.…”

Section: Theories Of Etiology and Dynamicsmentioning

confidence: 99%

A review of a two-phase population study of multiple chemical sensitivities.

Caress

Steinemann

2003

Environ Health Perspect

105

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In this review we summarize the findings of a two-phase study of the prevalence, symptomatology, and etiology of multiple chemical sensitivities (MCS). We also explore possible triggers, the potential linkage between MCS and other disorders, and the lifestyle alterations produced by MCS. The first phase of the study consisted of a random sampling of 1,582 individuals from the Atlanta, Georgia, metropolitan area to determine the reported prevalence of a hypersensitivity to common chemicals. In this phase, 12.6% of the sample reported a hypersensitivity. Further questioning of individuals with a hypersensitivity indicated that 13.5% (1.8% of the entire sample) reported losing their jobs because of their hypersensitivity. The second phase was a follow-up questioning of the respondents who initially reported hypersensitivity. In this phase, we found that individuals with hypersensitivity experience a variety of symptoms and triggers. A significant percentage (27.5%) reported that their hypersensitivity was initiated by an exposure to pesticides, whereas an equal percentage (27.5%) attributed it to solvents. Only 1.4% had a history of prior emotional problems, but 37.7% developed these problems after the physical symptoms emerged. This suggests that MCS has a physiologic and not a psychologic etiology.

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Section: Theories Of Etiology and Dynamicsmentioning

confidence: 99%

A review of a two-phase population study of multiple chemical sensitivities.

Caress

Steinemann

2003

Environ Health Perspect

105

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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%

“…The biochemical distinction among the porphyrias resides with the measurement of porphyrins and their metabolites in urine and feces (9,17,22,(53)(54)(55)). An algorithm for the diagnosis of porphyrias is based on an understanding of which porphyrin precursors to expect in urine or stool samples when evaluating for acute porphyria (Figure 1).…”

Section: Diagnostic Algorithmmentioning

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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“…As mentioned above, the induction of ALA synthetase subsequently leads to an increase of porphyrins and porphyrin precursors up to the step of the underlying enzyme deficiency, in this case, the latent PPO deficiency underlying VP. Thus, VP usually presents with a distinct porphyrin excretion pattern, and quantitative analyses of the different porphyrins and precursors in plasma, urine and feces are used to distinguish VP Frank/Christiano from other types of porphyrias [1,11,21]. During severe acute episodes of VP, ALA and PBG are usually increased in the urine, however patients experiencing milder attacks have also presented with normal values for ALA and PBG, and between attacks those values are usually within normal limits [1,21].…”

Section: Biochemistry and Laboratory Findingsmentioning

confidence: 99%

“…Thus, VP usually presents with a distinct porphyrin excretion pattern, and quantitative analyses of the different porphyrins and precursors in plasma, urine and feces are used to distinguish VP Frank/Christiano from other types of porphyrias [1,11,21]. During severe acute episodes of VP, ALA and PBG are usually increased in the urine, however patients experiencing milder attacks have also presented with normal values for ALA and PBG, and between attacks those values are usually within normal limits [1,21]. Therefore, normal values for ALA and PBG by no means exclude the presence of VP, and furthermore, measurement of these porphyrin precursors does not serve for the detection of latent VP patients.…”

Section: Biochemistry and Laboratory Findingsmentioning

confidence: 99%

Variegate Porphyria: Past, Present and Future

Frank

Christiano

1998

Skin Pharmacol Physiol

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Variegate porphyria, one of the acute hepatic porphyrias, is characterized by a partial reduction in protoporphyrinogen oxidase, the seventh enzyme of the heme biosynthetic pathway. For a long time, this disease has caused confusion among the porphyrias because it presents with clinical symptoms and biochemical findings that can be similar to those found in other types of porphyrias. Here, we provide an overview of historical, clinical, biochemical, genetical, and other aspects of variegate porphyria that might be helpful in providing more insight into this rare disorder.

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The Porphyrias: Characteristics and Laboratory Tests [corrected title]

Cited by 15 publications

References 0 publications

A review of a two-phase population study of multiple chemical sensitivities.

A review of a two-phase population study of multiple chemical sensitivities.

Acute Porphyrias: A Case Report and Review

Variegate Porphyria: Past, Present and Future

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