Latent Porphyria in Members of the Immediate Family of a Patient With Acute Intermittent Porphyria

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IN every case of the hepatic type of porphyria it is important that tests be made of the patient’s immediate blood relatives in regard to the urinary excretion of porphyrins and porphyrin precursors. By such screening tests, and only by them, can persons with latent porphyria be discovered. They then can be warned to avoid certain agents known to precipitate attacks of acute porphyria. The purpose of this paper is to report the results of a screening study of eleven members of the immediate family of a patient with acute intermittent porphyria previously reported,1 in order to determine whether or not any of them have latent porphyria.


While the patient (a 26-year-old woman) was in the Cleveland Clinic Hospital, from March 12 to April 16, 1960, because of acute intermittent porphyria, urine specimens were repeatedly analyzed. On April 13, 1960, urine specimens of the patient, her father, and her mother, were collected with no time control. On August 8, 1961, urine specimens of each of the 11 individuals were collected on a 12-hour basis, in laboratory containers. Standard methods2–4 were used for determining delta-aminolevulinic acid, porphobilinogen, and total porphyrins. The values of the urinary excretants of the patient and the 11 members of the family are listed in Table 1. Figure 1 shows the status of each member in regard to porphyria.


No medical examinations were made of members of the patient’s family. Only the mother and the father of the patient were interviewed. The father stated he . . .



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