A 22‐year‐old woman with severe headaches, vomiting, and tonic–clonic seizures

Dahlgren, Mollie; Khosroshahi, Arezou; Stone, John H.

doi:10.1002/acr.20249

Cited by 5 publications

(8 citation statements)

References 29 publications

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“…There has been one other reported case of PRES in HCP, which also occurred in the context of hypertension. 17 However, this patient had no stool metabolite testing to confirm HCP and no CPOX gene mutation analysis. She also had unexplained very high inflammatory markers which do not usually occur in acute porphyria.…”

Section: Discussionmentioning

confidence: 92%

A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp)

et al. 2018

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A 21-year-old female had recurrent presentations to the emergency department with myalgia, vomiting, abdominal pain and subsequently developed generalized seizures. She was volume depleted with a plasma sodium of 125 mmol/L (reference interval: 135-145) and she had fluctuating hypertension. Acute porphyria was suspected and confirmed with raised urine porphobilinogen/creatinine ratio of 12:4 μmol/mmoL (reference interval < 1:5) and she was treated with intravenous haem arginate. Urinary porphyrin/creatinine ratio was 673 nmol/mmoL (reference interval <35) and faecal porphyrins 2430 μmol/kg dry weight (reference interval: <200) were markedly elevated, with raised faecal CIII:CI ratio, consistent with acute coproporphyria. Diagnosis was confirmed by the demonstration of a novel missense variant in the coproporphyrinogen oxidase gene c.863T > G (p.Leu288Trp) predicted to be deleterious and which segregated with three other affected family members. Although CT head was normal, magnetic resonance imaging scan revealed symmetrical signal abnormalities and swelling in the parietal and occipital lobes consistent with posterior reversible encephalopathy. Over several days, her seizures ceased and sodium and blood pressure normalized. The aetiology of the acute porphyric attack was likely multifactorial with contributions from a recent viral illness and caloric deprivation. No drug precipitant was identified. We postulate that untreated hypertension played a key role in the development of posterior reversible encephalopathy. Early clinical suspicion and urine porphobilinogen testing are the key components in preventing morbidity and mortality in acute porphyrias.

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Section: Discussionmentioning

confidence: 92%

A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp)

et al. 2018

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“…A combination of endothelial dysfunction, hypoperfusion, and vasoconstriction in this setting of neurotoxicity can lead to a compromise of the blood-brain barrier and brain edema [11]. MRI may help detect changes occurring in the brain at the time of the acute attack though lesions are non-specific (cortically and/or subcortically, anterior or posterior, without or with mild enhancement, generally but not always reversible) [11, 12]. Seizures, when they occur, are a therapeutic challenge because most AEDs (phenobarbital, carbamazepine, clonazepam, phenytoin, primidone, ethosuximide, valproic acid, lamotrigine, felbamate, tiagabine, topiramate) may exacerbate attack of acute porphyria [13].…”

Section: Discussionmentioning

confidence: 99%

Acute Porphyria Presenting as Epilepsia Partialis Continua

et al. 2013

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Purpose: The porphyrias are a defect in the biosynthesis of heme which can be associated with different neurological symptoms during acute attacks such as peripheral neuropathy, mental disturbance and seizures. So far, there have only been a few case reports of status epilepticus, none of which were of epilepsia partialis continua (EPC). We present here two cases of hereditary coproporphyria (HCP) manifesting EPC as part of the clinical presentation. Method: The patients' medical charts, EEG and imaging studies were carefully reviewed. Results: Case 1 is a 49-year-old male who first presented a tonic-clonic seizure. Case 2 is a 30-year-old male who came to the emergency room for a convulsive status epilepticus. Both evolved to EPC over the next days. EPC persisted despite several antiepileptic drug trials. Diagnosis of HCP was confirmed by a high level of urine, fecal and serum porphyrins in both cases and by genetic testing in one. Over the last 3 years, the first patient has continued to present non-disabling EPC and has had four tonic-clonic seizures associated with alcohol consumption. The second patient died from brain edema one month and half after admission. Conclusion: Acute porphyrias should be included in the differential diagnosis of new onset status epilepticus, including EPC. Their recognition is important as it modifies significantly patient management, since many anticonvulsants are porphyrogenic.

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“…Though leukocytosis is not a common presenting finding in patients with acute attacks of HCP, it has been documented in the literature with white cell count elevation ranging from 14,000 to 30,000 cells/mm³. [5][6][7] There are a variety of biochemical tests available to test for porphyrias; however, none of these tests are sensitive or specific for acute porphyrias. The validity of the tests depends on the porphyria type, test used, stage of illness, and timely evaluation of the sample.…”

Section: Discussionmentioning

confidence: 99%

“…Components of various Hydroxycut™ formulations for which hepatotoxicity have been described include Camellia sinensis and hydroxycitric acid. 13,15 The most likely pattern of injury is hepatocellular; 5,13,16,17 however, there are reports that describe a cholestatic pattern of liver injury. 14,18,19 In 2009, the US Food and Drug Administration (FDA) released a statement warning consumers to stop using Hydroxycut™ as there were 23 case reports describing various sequelae ranging from transient elevated liver tests to fulminant liver failure requiring transplantation.…”

Section: Discussionmentioning

confidence: 99%

Liver Failure after Hydroxycut™ Use in a Patient with Undiagnosed Hereditary Coproporphyria

et al. 2015

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We report the case of a young male presenting with cholestatic liver failure. After an extensive workup, the etiology of the liver failure was determined to be due to hereditary coprophorphyria (HCP). The inciting event was the use of Hydroxycut™, an over-the-counter supplement to promote weight loss that has been reported to cause oxidative liver injury in vulnerable populations. Although HCP is a rare cause of cholestatic liver failure, it is treatable if diagnosed correctly and in a timely manner. In this clinical vignette, we discuss a case that highlights the genetic susceptibility to disease that can be unmasked by environmental exposures. We also review the relevant literature on Hydroxycut™ and how it can affect hepatic function.KEY WORDS: porphyria; liver failure; herbal supplement use.

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A 22‐year‐old woman with severe headaches, vomiting, and tonic–clonic seizures

Cited by 5 publications

References 29 publications

A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp)

A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp)

Acute Porphyria Presenting as Epilepsia Partialis Continua

Liver Failure after Hydroxycut™ Use in a Patient with Undiagnosed Hereditary Coproporphyria

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