Clinical presentation and electrophysiological findings of porphyric neuropathies: A follow‐up study

Wu, Chi-Lin; Ro, Long‐Sun; Jung, Shih‐Ming; Tsai, Tzung-Chang; Chu, Chun‐Che; Lyu, Rong‐Kuo; Huang, Chin‐Chang; Kuo, Hung‐Chou

doi:10.1002/mus.24327

Cited by 32 publications

(30 citation statements)

References 22 publications

(58 reference statements)

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“…Although most symptomatic patients with AHP have complete resolution of their symptoms between attacks, those with multiple recurrent attacks may develop chronic pain. The pathogenesis of chronic pain in these patients is poorly understood, but nerve conduction and electromyogram studies often reveal chronic neuropathy, typically an axonal motor polyneuropathy . Referral to a neurologist is recommended for any patient with residual neurologic deficits.…”

Section: Natural History: Recommendations For Long‐term Follow‐upmentioning

confidence: 99%

“…The pathogenesis of chronic pain in these patients is poorly understood, but nerve conduction and electromyogram studies often reveal chronic neuropathy, typically an axonal motor polyneuropathy. (8,21) Referral to a neurologist is recommended for any patient with residual neurologic deficits. These chronic symptoms may not respond to administration of heme, and referral to a pain management specialist may be helpful for management of chronic neuropathic pain.…”

Section: Chronic Sequelaementioning

confidence: 99%

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Acute Hepatic Porphyrias: Review and Recent Progress

et al. 2018

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The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms. The four types are 5‐aminolevulinic acid (ALA) dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. Their diagnoses are often missed or delayed because the clinical symptoms mimic other more common disorders. Recent results indicate that acute intermittent porphyria, the most severe of the more common types of AHP, is more prevalent than previously thought, occurring in about 1 in 1600 Caucasians, but with low clinical penetrance (approximately 2%‐3%). Here we provide an updated review of relevant literature and discuss recent and emerging advances in treatment of these disorders. Symptomatic attacks occur primarily in females between 14 and 45 years of age. AHP is diagnosed by finding significantly elevated levels of porphyrin precursors ALA and porphobilinogen in urine. Acute attacks should be treated promptly with intravenous heme therapy to avoid the development of potentially irreversible neurologic sequelae. All patients should be counseled about avoiding potential triggers for acute attacks and monitored regularly for the development of long‐term complications. Their first‐degree relatives should undergo targeted gene testing. Patients who suffer recurrent acute attacks can be particularly challenging to manage. Approximately 20% of patients with recurrent symptoms develop chronic and ongoing pain and other symptoms. We discuss newer treatment options in development, including small interfering RNA, to down‐regulate ALA synthase‐1 and/or wild‐type messenger RNA of defective genes delivered selectively to hepatocytes for these patients. We expect that the newer treatments will diminish and perhaps obviate the need for liver transplantation as treatment of these inborn metabolic disorders.

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Section: Natural History: Recommendations For Long‐term Follow‐upmentioning

confidence: 99%

Section: Chronic Sequelaementioning

confidence: 99%

Acute Hepatic Porphyrias: Review and Recent Progress

et al. 2018

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“…This complication has been poorly studied, and its prevalence and causes are unknown. Nerve conduction and electromyographic studies may detect a chronic neuropathy as the cause of ongoing pain, sensory loss, or muscle weakness . Prospective studies are needed in patients with sporadic and recurrent attacks and ASHE.…”

Section: Initial Assessmentmentioning

confidence: 99%

Acute hepatic porphyrias: Recommendations for evaluation and long‐term management

Balwani¹,

Wang²,

et al. 2017

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The acute hepatic porphyrias (AHPs) are a group of four inherited disorders, each resulting from the deficient activity of a specific enzyme in the heme biosynthetic pathway. They present clinically with acute neurovisceral symptoms which may be sporadic or recurrent, and which, when severe, can be life-threatening. The diagnosis is often missed or delayed as the clinical features resemble other more common medical conditions. There are four major subgroups: symptomatic patients with sporadic or recurrent acute attacks, asymptomatic high porphyrin precursor excretors, and asymptomatic latent patients without symptoms or porphyrin precursor elevations. Given their clinical heterogeneity and potential for significant morbidity with suboptimal management, comprehensive clinical guidelines for initial evaluation, follow-up and long-term management are needed, particularly since no guidelines exist for monitoring disease progression or response to treatment. The Porphyrias Consortium of the NIH’s Rare Diseases Clinical Research Network, which consists of expert centers in the clinical management of these disorders, has formulated these recommendations. These recommendations are based on the literature, ongoing natural history studies, and extensive clinical experience. Initial assessments should include diagnostic confirmation by biochemical testing, subsequent genetic testing to determine the specific AHP, and a complete medical history and physical examination. Newly diagnosed patients should be counseled about avoiding known precipitating factors. The frequency of follow up depends on the clinical subgroup, with close monitoring of patients with recurrent attacks who may require treatment modifications as well as those with clinical complications. Comprehensive care should include subspecialist referrals when needed. Annual assessments include biochemical testing and monitoring for long term complications. These guidelines provide a framework for monitoring patients with AHPs to ensure optimal outcomes.

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“…Motor and autonomic porphyric neuropathy can occur acutely and then progress slowly over a period of months. Sensory neuropathy is less common but may occur, manifested by neuralgia during acute porphyric attacks; distal paraesthesia and hypothesia, especially in the lower limbs, may develop as a prominent symptom in patients with chronic porphyric neuropathies . The pathophysiological mechanism of porphyric neuropathy remains unclear.…”

Section: Introductionmentioning

confidence: 99%

“…Sensory neuropathy is less common but may occur, manifested by neuralgia during acute porphyric attacks; distal paraesthesia and hypothesia, especially in the lower limbs, may develop as a prominent symptom in patients with chronic porphyric neuropathies. [2][3][4] The pathophysiological mechanism of porphyric neuropathy remains unclear. We report two patients with AIP in a family who presented with chronic porphyric neuropathy.…”

Section: Introductionmentioning

confidence: 99%

Porphyric neuropathies in an acute intermittent porphyria family

Kuo

Jung

et al. 2015

Neuropathology

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The objective of this study was to investigate two patients with porphyric neuropathy in a family with acute intermittent porphyria. Molecular analysis of the porphobilinogen deaminase (PBGD) gene was performed. We analyzed the clinical course of peripheral neuropathy and serial changes in nerve conduction studies (NCS) of the two patients. We also examined the pathological findings of sural nerve biopsy in one patient. Molecular analysis of the PBGD gene revealed a missense mutation (Arg26His) in exon 2 for two patients and their family members. Distal polyneuropathy was noted in the patients with chronic porphyric neuropathy. In the follow-up NCS, recovery was relatively poor in the lower limb in one patient with severe polyneuropathy, and NCS evidence of deterioration was found following frequent hormone-related porphyric attacks in another patient. The sural nerve biopsy showed marked loss of myelinated and unmyelinated fibers in one patient with chronic porphyric neuropathy. In contrast to radial and fibular motor nerves in acute porphyric neuropathy, the sural nerve is vulnerable to involvement in chronic porphyric neuropathy following repeated porphyric attack as seen in the NCS.

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Clinical presentation and electrophysiological findings of porphyric neuropathies: A follow‐up study

Abstract: The findings from this case series suggest that the peripheral nerves may be differentially and selectively involved in different diagnostic stages of porphyric neuropathy.

Cited by 32 publications

References 22 publications

Acute Hepatic Porphyrias: Review and Recent Progress

Acute Hepatic Porphyrias: Review and Recent Progress

Acute hepatic porphyrias: Recommendations for evaluation and long‐term management

Porphyric neuropathies in an acute intermittent porphyria family

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