Porphyria and its neurologic manifestations

Tracy, Jennifer A.; Dyck, Peter J.

doi:10.1016/b978-0-7020-4087-0.00056-5

Cited by 50 publications

(58 citation statements)

References 62 publications

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“…The acute porphyrias, including acute intermittent porphyria, coproporphyria and variegate porphyria, can present as an acute neuropathy mimicking Guillain-Barré syndrome w103. In AIP, relapses are associated with abdominal pain and seizures whereas in variegate and coproporphyria there is skin photosensitivity.…”

Section: Introductionmentioning

confidence: 99%

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Rossor

Carr

Devine

et al. 2017

J Neurol Neurosurg Psychiatry

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Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy e.g. spasticity, the type of neuropathy, and the other neurological and nonneurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories -1) ataxia, 2) spasticity, and 3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy e.g. cardiomyopathy and neuropathy. We also include a separate category of complex inherited relapsing neuropathy syndromes, some of which may mimic Guillain Barré syndrome, as many will have a metabolic aetiology and be potentially treatable.

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Section: Introductionmentioning

confidence: 99%

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Rossor

Carr

Devine

et al. 2017

J Neurol Neurosurg Psychiatry

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“…The actual heterozygote prevalence is unknown, as it is estimated that 80–90% of heterozygotes never experience symptoms 1–3 . Symptoms are characterized by life-threatening acute neurovisceral attacks of severe abdominal pain, nausea, vomiting, and tachycardia that, if untreated, may lead to seizures, hallucinations, brain stem involvement and paralysis 1–6 . A small subset of patients experience recurrent attacks, most of whom are women 1,2,4 .…”

Section: Introductionmentioning

confidence: 99%

“…The AHPs are diagnosed during an attack by demonstrating markedly elevated urinary and/or plasma levels of the neurotoxic porphyrin precursors, 5-aminolevulinic acid (ALA) and porphobilinogen (PBG) 6,8,9 . However, diagnosis is often delayed due to the nonspecific symptoms and lack of awareness of these rare disorders among physicians.…”

Section: Introductionmentioning

confidence: 99%

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study

Naik

Stoecker

Sanderson

et al. 2016

Molecular Genetics and Metabolism

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Background The acute hepatic porphyrias (AHPs) are rare inborn errors of heme biosynthesis, characterized clinically by life-threatening acute neurovisceral attacks. Patients with recurrent attacks have a decreased quality of life (QoL); however, no interactive assessment of these patients’ views has been reported. We conducted guided discussions regarding specific topics, to explore patients’ disease experience and its impact on their lives. Methods Sixteen AHP patients experiencing acute attacks were recruited to moderator-led online focus groups. Five groups (3–4 patients each) were conducted and thematic analyses to identify, examine, and categorize patterns in the data was performed. Results All patients identified prodromal symptoms that began days prior to acute severe pain; the most common included confusion (“brain fog”), irritability, and fatigue. Patients avoided hospitalization due to prior poor experiences with physician knowledge of AHPs or their treatment. All patients used complementary and alternative medicine treatments to avoid hospitalization or manage chronic pain and 81% reported varying degrees of effectiveness. All patients indicated their disease impacted personal relationships due to feelings of isolation and difficulty adjusting to the disease’s limitations. Conclusion Patients with recurrent attacks recognize prodromal warning symptoms, attempt to avoid hospitalization, turn to alternative treatments, and have markedly impaired QoL. Counseling and individualized support is crucial for AHP patients with recurrent attacks.

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“…Provoking factors are known to be alcohol ingestion, infection, surgical procedure, variety of drugs, low-carbohydrate diet or fasting and menstruation. [4][5][6][7][8][9][10][11] We present three cases of newly diagnosed acute porphyria, presenting with severe hyponatremia in ICU.…”

Section: Hyponatremiamentioning

confidence: 99%

Three Cases of Acute Porphyria, Presenting With Severe Hyponatremia

Zakharova¹

2015

UNOAJ

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Porphyrias are a group of rare metabolic diseases that result from enzymatic defects of porphyrins metabolism and heme synthesis. Accumulation of porphyrins and their precursors present with neuro-visceral symptoms and/or skin lesions. Acute porphyrias may have variety of manifestations; most common of them are abdominal pain and central nervous system disturbances, hyponatremia is highly characteristic for acute intermittent porphyria and is usually attributed to syndrome of inappropriate secretion of antidiuretic hormone (SIADH). We present here three cases of acute porphyria, primary diagnosed in ICU by nephrologist, invited for evaluation and treatment of severe hyponatremia and discuss causes of hyponatremia, differentiating between SIADH and cerebral salt wasting (CSW) syndrome.

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Porphyria and its neurologic manifestations

Cited by 50 publications

References 62 publications

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study

Three Cases of Acute Porphyria, Presenting With Severe Hyponatremia

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