Clinical features predictive of a poor prognosis in acute porphyria

Pischik, Elena; Bulyanitsa, A. L.; Kazakov, Valery; Kauppinen, Raili

doi:10.1007/s00415-004-0584-z

Cited by 26 publications

(36 citation statements)

References 11 publications

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“…The extent of muscle weakness, mechanical ventilation, bulbar palsy, impairment of consciousness and hyponatraemia correlate with a poor outcome. 20 Generally, the symptoms of the acute attack are relatable to dysfunction of the autonomic, peripheral and the central nervous systems (CNS). The following case report illustrates the typical neurological features of the acute porphyrias and the challenges faced in the management of a severe episode.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

The neurologic manifestations of the acute porphyrias

Simon

Herkes

2011

Journal of Clinical Neuroscience

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Section: Clinical Manifestationsmentioning

confidence: 99%

The neurologic manifestations of the acute porphyrias

Simon

Herkes

2011

Journal of Clinical Neuroscience

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“…3). Their clinical features have been published [10]. Urinary porphyrins and their precursors remained increased (up to 50-100-fold) even in remission and the plasma porphyrin spectrum was positive (Table 1).…”

Section: Resultsmentioning

confidence: 93%

“…Although patients with acute porphyria are commonly young women, age does not exclude acute porphyria. During an acute attack our patients had several misdiagnoses and delayed diagnosis of porphyria, which allowed PNP to proceed, resulting in a fatal outcome [10]. Since a specific treatment for acute porphyria is available, early screening of urinary PBG may be life saving [10].…”

Section: Discussionmentioning

confidence: 98%

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Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?

2008

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Acute porphyrias are a group of inherited metabolic disorders representing overproduction syndromes with the formation of neurotoxic haem precursors. Clinical manifestations consist of acute attacks, which include abdominal pain, dysautonomia, mental symptoms, polyneuropathy and seizures mimicking many other acute neurological disorders.Porphyrin metabolites were screened in 108 patients with acute polyneuropathy or encephalopathy associated with pain and/or dysautonomia, who attended neurological wards, in order to evaluate the number of patients with acute porphyria.Urinary porphyrins and their precursors were increased in 21% of the cases. Surprisingly many patients (11%) had previously undiagnosed acute porphyria. Half of these patients had had mild to moderate symptoms of acute porphyria previously. Secondary porphyrinuria, which was mainly transient coproporphyrinuria because of hepatopathy, was also common (10%). Of the 108 patients studied, the levels of urinary porphyrins or their precursors were normal in the majority (79%) of the cases, who commonly had Guillain-Barré syndrome (40%). Epileptic seizures were also frequent (18%), but none of the patients with acute porphyria had solely epileptic seizures without prolonged confusion (>or= 1 day).Based on our findings, acute inherited porphyria is not infrequent among the selected group of neurological patients and screening of urinary PBG is cost-beneficial. Since the correct diagnosis of a hereditary disease is essential, genetic screening should be performed whenever possible for patients with clinically and biochemically confirmed acute porphyria.

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“…Als prognostisch ungünstige Faktoren, die zu einer intensiveren Überwachung Anlass geben sollten, gelten Arrhythmien, ausgeprägte Muskelparesen, Bewusstseinsstörungen, Hyponatriämien infolge inadä-quater Sekretion des antidiuretischen Hormons (ADH), Atemregulationsstörungen und eine Hirnnervenbeteiligung [11].…”

Section: Acute Porphyria · Motor Neuropathy · Haem Biosynthesis · Mutunclassified

Akute intermittierende Porphyrie

et al. 2006

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Acute porphyrias are rare, but often misdiagnosed and may take a dramatic clinical course. The combination of various internal, psychiatric and neurological symptoms can mimic different other diseases. We report a 40-year-old female patient who was admitted with a subacute tetraparesis. During the last 2 months the patient was treated several times because of abdominal pain and just before admission to our clinic in a psychiatric hospital because of acute mental changes and hallucinations. The typical combination of abdominal pain, motor neuropathy and psychiatric symptoms confirmed by increased amounts of porphyrins and their precursors, led us to promptly diagnose acute intermittent porphyria. Better knowledge about the pathogenesis has clearly improved the prognosis of acute porphyria. In remission, measurement of enzyme activities or mutation screening can be the only diagnostic verification. A mutation screening for family members should be conducted to identify symptom-free carriers, especially in cases of a positive family history.

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Clinical features predictive of a poor prognosis in acute porphyria

Cited by 26 publications

References 11 publications

The neurologic manifestations of the acute porphyrias

The neurologic manifestations of the acute porphyrias

Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?

Akute intermittierende Porphyrie

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