Acute Porphyrias

Besur, Siddesh; Schmeltzer, Paul; Bonkovsky, Herbert L.

doi:10.1016/j.jemermed.2015.04.034

Cited by 53 publications

(64 citation statements)

References 27 publications

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“…13,15,12 Our results showed a frequency of 1.1% with 3cases in females and 2cases in males and the mean age at diagnosis was 38years. HEP was the seventh porphyria type and showed a frequency of 0.9% (four cases).…”

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confidence: 45%

“…AIP increased in females using contraceptives, hormone replacement therapy and increased alcohol consumption, which can be cause of the increased prevalence in our female population. 13 However, PHE prevalence was the same in both genders and EPP was the only type that showed higher frequency in males (Table 4). PCT was the second porphyria type with 22.1% (97/493 cases).…”

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confidence: 91%

“…In contrast to some of these findings, we observed a fourth type of porphyria and incidence around 30 years at diagnosis. 7,8,13 VP was the fifth porphyria type and showed a frequency of 2.5% (11cases).Eight cases in women and 3cases in men were observed. The mean age at diagnosis was 39.8years.…”

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confidence: 96%

“…Our results differ from other authors that describe PCT as the most common type, but with the same mean age at diagnosis (44years) (Tables 2-4) ( Figure 2). 3,13 PCT was the third most frequent in Argentina. 14 EPP was the fourth porphyria type and showed a frequency of 4.1% (18cases).…”

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confidence: 99%

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Porphyria: Analysis of Register from Brazilian Association of Porphyria (ABRAPO)

Osternack¹

2016

HTIJ

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Background: The porphyria is a group of rare metabolic disorders that arise from deficiencies in the heme biosynthetic pathway. The prevalence in Europe is 1-2:100,000 inhabitants. These disorders occur mostly due to mutations in the genes encoding enzymes involved in heme production. [HEP]). AIP is the most common form of hepatic porphyria and symptoms are often begin after puberty and consist of acute neurovisceral signs, abdominal pain, vomiting, constipation, tachycardia, fever, hypertension and alterations in the central nervous system. Aim:To study the porphyria frequency in Brazil by Associação Brasileira de Porfiria (ABRAPO-Brazilian Porphyria Association). Methods:We study the frequency of porphyria in 439 cases of patients with porphyria diagnosis from ABRAPO from 2007 to 2015 and data were analyzed with Microsoft Excel® program. Results:We analyzed 439 cases consisting of 74.2% female. 59% percent had been diagnosed with AIP, 22% PCT, 4% HCP, 4% EPP, 2.5% VP, 1.1% CEP, 0.9% HEP and 0.4% ALADP. Conclusion:Our analysis revealed similar epidemiological characteristics as seen in the United States and United Kingdom. In Brazil, porphyria should be studied more carefully to assess, properly diagnosis and treatment.

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confidence: 45%

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confidence: 91%

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confidence: 96%

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confidence: 99%

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Porphyria: Analysis of Register from Brazilian Association of Porphyria (ABRAPO)

Osternack¹

2016

HTIJ

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“…Early diagnosis and treatment is critical for a good clinical outcome 1. Some of the first-line ATT drugs are known to cause direct peripheral neuropathy as well as precipitate AIP 5 6. The incidence of ATT triggering ‘porphyric neuropathy’ is unknown.…”

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confidence: 99%

Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria

2017

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A man aged 22 years misdiagnosed as suffering from recurrent abdominal tuberculosis, in view of recurrent abdominal pain was treated for abdominal tuberculosis in the past. The patient was prescribed antituberculous therapy. 2 months after starting treatment, he developed progressive weakness of all 4 limbs. Electrodiagnostic examination revealed an acute severe motor axonal neuropathy. Further workup revealed elevated porphyrin precursors in urine.

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Spectroscopic methods to quantify molecules of the heme‐biosynthesis pathway: A review of laboratory work and point‐of‐care approaches

Heckl

Eisel

Lang

et al. 2021

Transl Biophotonics

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Spectroscopic methods for quantitative detection of molecules of the heme synthesis and heme metabolism are presented. This can be used to diagnose disease patterns such as iron deficiency, porphyria or free hemoglobin. This article combines an overview of clinical conditions associated with disorders of heme biosynthesis and presents selected laboratory findings in the development of portable diagnostic devices. An iron deficiency measurement device has already been validated as a portable device in clinical trials, two other methods have been tested according to EMA guidelines and are available for use in clinical validation studies. The presented rapid, low‐cost and low‐effort methods can support diagnosis in everyday clinical practice and initiate more targeted therapies, even for rare disease conditions.

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Acute Porphyrias

Cited by 53 publications

References 27 publications

Porphyria: Analysis of Register from Brazilian Association of Porphyria (ABRAPO)

Porphyria: Analysis of Register from Brazilian Association of Porphyria (ABRAPO)

Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria

Spectroscopic methods to quantify molecules of the heme‐biosynthesis pathway: A review of laboratory work and point‐of‐care approaches

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