Recommendations for the Diagnosis and Treatment of the Acute Porphyrias

@article{Anderson2005RecommendationsFT,
  title={Recommendations for the Diagnosis and Treatment of the Acute Porphyrias},
  author={Karl E. Anderson and Joseph R. Bloomer and Herbert L. Bonkovsky and James P. Kushner and ClausA. Pierach and Neville Roy Pimstone and Robert J. Desnick},
  journal={Annals of Internal Medicine},
  year={2005},
  volume={142},
  pages={439-450}
}
Key Summary Points Early Diagnosis of Acute Porphyria Consider in all adults with unexplained symptoms seen in acute porphyrias (Table 2); certain clinical features are suggestive: women of reproductive age; abdominal pain; muscle weakness; hyponatremia; and dark or reddish urine. Establish diagnosis promptly by testing for increased porphobilinogen in a single-void urine (we recommend the Trace PBG Kit [Thermo Trace/DMA, Arlington, Texas]). If porphobilinogen is increased, begin treatment… 
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References

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Diagnosis and management of porphyria
TLDR
Although porphyria is a relatively uncommon condition, it should be considered in patients presenting with an atypical medical, psychiatric, or surgical history, particularly because haem arginate can induce a definite remission if given early in an attack.
[The hepatic porphyrias: experience with 105 cases].
TLDR
Venipuncture was used to treat 50% of patients with porphyria cutanea tarda with 95% success and the disease is recognized with increasing frequency and can be treated successfully in most cases.
Hematin therapy for acute porphyria.
TLDR
Hematin appears to be a promising therapeutic agent for the treatment of acute attack forms of porphyria and subjective improvements in the clinical status of the patients were observed frequently.
[Porphyric crisis: experience of 30 episodes].
TLDR
There was clear predominance (80%) of women, but they are also a majority among acute porphyrias, and the most frequent symptoms were: abdominal pain, tachycardia, dark urine, neurological and psychiatric alterations and arterial hypertension.
Acute intermittent porphyria: clinical and selected research aspects.
TLDR
The measurement of uroporphyrinogen I synthetase in erythrocytes now provides an enzyme diagnostic test for the disease and two therapeutic approaches that may prove to reverse the fundamental disease process involve a high carbohydrate intake and intravenous administration of hematin.
Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases.
TLDR
Patients with AIP or VP showed increased incidences of hepatocellular carcinoma, and probably also chronic renal failure and hypertension and hypertension.
[Acute attacks of hepatic porphyria: specific treatment with heme arginate].
TLDR
The 69 acute attacks that the authors treated with heme-arginate between 1988 and 1991 are described in this report and a favorable response was dependent upon the early initiation of heme therapy.
Treatment with haematin in acute hepatic porphyria.
TLDR
The experience with intravenous haematin in the treatment of 13 attacks of acute porphyria in eight patients found that biochemical improvement was a consistent finding and clinical response has been less consistent.
[[35 Years of effort to improve the diagnosis of porphyria].
TLDR
The activities of Porphyria Center during period of 25 years have shown how difficult it was to introduce diagnostic measures for this rare and very little known group of diseases.
The “glucose effect” in acute hepatic porphyrias and in experimental porphyria
TLDR
The biochemical response with a decrease of metabolites of porphyrin biosynthesis was highly significant, accompanied by clinical improvement in 10 courses of 9 patients, and two patients with delayed detection of the disease under the condition of Landry paralysis died after temporary clinical improvement.
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