Wednesday, July 01, 2015

Acute porphyrias

Here is a case series recently published. From the article:

We report the largest group of subjects with well-documented and -characterized acute porphyrias thus far assembled in North America. Our emphasis is on acute intermittent porphyria, which is the most common and severe form of acute porphyria in the US. Among the important features are the following: 1) There is a substantial preponderance of females (83%) over males. 2) Fewer than half the subjects reported a parent with known acute porphyria, confirming the variable expression of the clinical phenotype, even within individual kindreds. 3) The onset of symptoms usually occurs during the second through fourth decades of life (81%). 4) Medications (37%) and weight loss diets (22%) are the most commonly reported triggers of acute attacks. 5) Eighteen percent feel they suffer from chronic, ongoing symptoms.

There are high prevalences of chronic medical conditions such as peripheral neuropathy (43%), systemic arterial hypertension (43%), chronic kidney disease (29%), and history of abdominal surgeries (appendectomy 13%, and cholecystectomy 15%). The prevalences of systemic arterial hypertension, psychiatric conditions, and seizures are significantly greater than that in the general population, matched for age and sex...

In conclusion, most patients with symptomatic acute porphyrias in the US are women who first develop symptoms in the second to fourth decades of life. The cardinal symptom is severe generalized abdominal pain, often with nausea and vomiting. There are significantly increased frequencies of systemic arterial hypertension, chronic renal and psychiatric disease, and seizures. Genetic analyses reveal diverse mutations in the genes underlying these disorders.

Patients report that the most effective therapy of acute attacks is intravenous hematin. Thus,2, 15 we believe that patients with acute porphyrias and with symptoms severe enough to come to the Emergency Department or to be hospitalized, should be treated as expeditiously as possible with intravenous hematin. In addition, prophylactic and repeated administration of intravenous hematin is of benefit to those prone to recurrent attacks,21 and hematin is safe for use in women who are pregnant. Hematin was the first drug approved under the Orphan Drug Act, and it should be readily available to all symptomatic patients with well-documented acute porphyrias.

The paper is available as free full text.

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