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2015 ; 3
(1
): 17-26
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Acute Hepatic Porphyria
#MMPMID26357631
Bissell DM
; Wang B
J Clin Transl Hepatol
2015[Mar]; 3
(1
): 17-26
PMID26357631
show ga
The porphyrias comprise a set of diseases, each representing an individual defect
in one of the eight enzymes mediating the pathway of heme synthesis. The diseases
are genetically distinct but have in common the overproduction of heme
precursors. In the case of the acute (neurologic) porphyrias, the cause of
symptoms appears to be overproduction of a neurotoxic precursor. For the
cutaneous porphyrias, it is photosensitizing porphyrins. Some types have both
acute and cutaneous manifestations. The clinical presentation of acute porphyria
consists of abdominal pain, nausea, and occasionally seizures. Only a small
minority of those who carry a mutation for acute porphyria have pain attacks. The
triggers for an acute attack encompass certain medications and severely decreased
caloric intake. The propensity of females to acute attacks has been linked to
internal changes in ovarian physiology. Symptoms are accompanied by large
increases in delta-aminolevulinic acid and porphobilinogen in plasma and urine.
Treatment of an acute attack centers initially on pain relief and elimination of
inducing factors such as medications; glucose is administered to reverse the
fasting state. The only specific treatment is administration of intravenous
hemin. An important goal of treatment is preventing progression of the symptoms
to a neurological crisis. Patients who progress despite hemin administration have
undergone liver transplantation with complete resolution of symptoms. A current
issue is the unavailability of a rapid test for urine porphobilinogen in the
urgent-care setting.