Abnormal iron and water metabolism in acute intermittent porphyria with new morphologic findings

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A fifty year old white man with no history of liver disease, alcoholism or iron therapy experienced his first attack of acute intermittent porphyria characterized by severe postural hypotension, severe abdominal pain, pink urine, intermittent disorientation with hallucinations, excessive diaphoresis and hyponatremia (values to 115 mEq/L). Although studies of urine and blood suggested the syndrome of inappropriate release of antidiuretic hormone (SIADH), blood volume was markedly reduced to 45.2 ml/kg (normal blood volume for males = 67.0 ± 6.5 ml/ kg) with a normal hematocrit value and a normal aldosterone secretion rate. Overactivity of the sympathetic nervous system was documented chemically by measurement of epinephrine excretion (48 and 56 μg/twenty-four hours, normal less than 20 μg/twenty-four hours) and norepinephrine excretion (102 and 112 μg/twenty-four hours, normal less than 80 μg/twenty-four hours). Death occurred suddenly and was thought to have resulted from an arrhythmia. At autopsy the histologic changes in the liver were unusual for acute intermittent porphyria. There was prominent generalized hemosiderosis which spared nodular areas of regeneration. The origin of the excessive concentrations of iron in the liver, spleen and marrow is unknown. In the supraoptic and paraventricular nuclei there was about a two-thirds reduction in the expected number of neurosecretory cells, mild astrocytic gliosis and vacuolar changes in most of the remaining neurosecretory cells. The significance of these findings is discussed.