Porphyria Educational Services

PORPHYRIA EDUCATIONAL SERVICES BULLETIN
Volume 2 Number 4                            January 23, 2000
FOCUS: Overview  of the Acute Hepatic Porphyrias

       AIP usually but again not always has an adult onset.
AIP is often medication induced and has  intermittent neurologic symptoms.

            Motor neuropathy associated with AIP may progress to
quadriplegia and respiratory paralysis.

            Acute abdominal pain, with ileus, mimicking surgical abdomen,
constipation is quite common in AIP attacks.

            Seizures may also occur in AIP as well as ANS and muscle spasms.

            Psychiatric symptoms, including psychosis can occur  when the
electrolytes become imbalance or fall below normal ranges. An electrolyte panel should
be obtained at the onset of any attack so that necessary potassium may be
administered to help avoid any mental changes.

       Medications which may induce attacks include:amtidepressive,
antifungals, barbiturates, anticonvulsants, sulfa drugs, alcohol, hormonal
changes or hormones themselves and many chemical toxcins or environmental
toxins.

       Urine  of AIP patients usually have a dark red color after the urine
is left to stand in air and , especially if allowed to stand in light.
AIP has a 1/40,000 prevalence,and is  much higher in Northern Sweden where
it affects 1/900.  Women are affected 50 % more often affected by acute
attacks than men.

      The AIP  defect is in gene for porphobilinogen (PBG) deaminase (aka
uroporphyrinogen synthase) although about 14^ of all AIP carriers will
should no decrease in the PBG-D.

       PBG deaminase is a rate limiting enzyme in heme synthesis whose
activity can be perturbed by other chemicals.

      In today;s modern DNA analysis of porphyria it is found that the AIP
porphyria mutant gene lies at 11q23. There are at least  14 mutations known
at this present time.

      Best screening test is direct measurement of urinary porphyrins during
an an acute attack.  When asymptomatic, enzyme measurement is more sensitive.

      In AIP no porphyrins will show up in the fecal screening even during
an acute attack.

       Differential diagnosis of porphyria includes many facets. In
Variegate porphyria: neurologic symptoms are the same as AIP, but also with
bullous skin ulcerations in sun exposed areas. VP as it is called is common
in both black and white South Africans (1/400). Defect in protoporphyrinogen
oxidase

       Hereditary coproporphyria: Similar to variegate; with the defectbeing
found  in coproporphyrinogen oxidase.

       The acute porphyrias including AIP, VP and HCP are treatable as well
as preventable disease.

       Acute attack treatment include  a diet of high carbohydrates, IV
fluids with electrolytes added if below normal levels, glucose to repress ALA
synthetase and stop the overproduction of porphyrins which cause the
symptomology experienced during an acute attack.

      Preventation requires adequate carbohydrate intake on a daily basis
and avoidance of all know triggers.

J. Munoz, MD