NAOSITE: Nagasaki University's Ac Title Author(s) An Autopsy Case of Acute Intermitte Murase, Kunihiko; Makiyama, Kazuya; Nonaka, Shigeru Citation Acta Medica Nagasakiensia. 1992, 37 Issue Date 1992-12-25 URL http://hdl.handle.net/10069/17546 Right This document is downloaded http://naosite.lb.nagasaki-u.ac.jp
Acta Med. Nagasaki 37:1-4 An Autopsy Case of Acute Intermittent Porphyria Kunihiko Murase, M. D.,1 Kazuya Makiyama, M. D.,z Kohei Hara, M, D.,z Masahiro Ito, M. D.,3) and Shigeru Nonaka, M. D.,4) 1) Department of Internal Medicine, Saint Francis Hospital 2) Second Department of Internal Medicine, Nagasaki University School of Medicine 3) Department of Pathlogy, Atomic Disease Institute, Nagasaki University School of Medidine 4) Department of Dermatology, Nagasaki University School of Medicine A 35-year-old woman was admitted to our hospital because of abdominal pain and numbness of the lower extremities. Acute intermittent porphyria (AIP) was diagnosed because of porphyric bodies in the urine and faeces. Two years after first admission, she died from suffocation due to inhalation of sputum. Autopsy revealed a precirrhotic liver with cholestasis, accompanied by deposits of brown pigments in the bile canaliculi. By fluorescence microscopy, a red autofluorescence was observed in all parts of frozen sections of the liver under ultra-violet light. We conclude that liver damage in the patient with AIP may be induced by the hepatotoxic properties of porphyric bodies and exacerbated by the precipitation of porphyric bodies in the bile canaliculi and ducts. Introduction AIP is the result of an autosomal dominant inborn error in hepatic heme biosynthesis, and is the most common type of porphyria (1, 2). Manifestations of AIP include acute symptoms such as abdominal pain and neuropsychiatric symptoms, but there is an absence of skin lesions. In AIP, the increase in hepatic aminolevulinate synthetase (ALAS) coupled with deficiency of uroporphyrinogen I synthetase (UROS), are consistent with the excretory pattern (3, 4). As a result, porphyrins and their precursors are hyperproduced in the liver, and in spite of the salient clinical manifestations, histological abnormalities are slight: fatty degeneration, periportal fibrosis, round cell infiltration and brown pigments in the hepatocytes (5, 6, 7, 8). An autopsy case of AIP showing interesting pathological findings is reported. CASE REPORT A 35-year-old woman was admitted to the St. Francis Hospital because of abdominal pain and numbness of the lower extremities on April 28, 1988. For 20 years the patient had habitually taken a headache medicine (Isopropylantipyrine). On January 3, 1987, she was admitted to a nearby hospital, where a diagnosis of hepatic porphyria was given. Physical examination showed hypertension (170/100 mmhg). The abdomen was tender. The urine was red in color and negative for protein and occult blood. Hb was 9.9 g/dl, and the white blood cell count 5,500/mm3. The ALP and 7 -GTP levels were elevated (Table 1). Excretions of coproporphyrin, uroporphyrin, porphobilinogen (PBG), delta-aminolevulinic acid (ALA) in the urine; and coproporphyrin, uroporphyrin, protoporphyrin in the faeces at the time of acute crisis were markedly elevated; but copro-, uro- and protoporphyrin in the faeces were normal at remission (Table 2). The patient was admitted to our hospital eleven times, and 2 years after the first admission she died from suffocation. Table 1. Laboratory Data on Admission Urine Protein Sugar Occult Stool Occult RBC Hb WBC PLT Serology CRP RA HBsAg ESR 333 x 104/mm' 9.9 g/dl 5500/mm' 22.8 x 104/mm3 0.26 mg/di ( ) ) 22 mm/hr Biochemistry T. Bil GOT GPT ALP LAP -GTP ChE LDH CPK Amy T. P BUN Cr Na ClK Ca 0.7 mg/dl 27 IU/1 26 IU/1 310 IU/I 160 IU/I 421 IU/1 1.38 A PH 282 IU/1 15 IU/1 293 IU/1 6.6 g/dl 40.3 mg/di 1.3 mg/dl 140 meq/1 4.3 meq/1 105 meq/1 8.5 mg/di
2 K. Murase et al. A Case of Porphyria Table 2. Porphyrin and Precursors Acute crisis Urine Coproporphyrin Uroporphyrin Porphobilinogen 6 -aiminolevulinic acid Faecus Copro porphyrin (LT 160 g/day) (2-20 g/day) (LT 2.0mg/day) (LT 5.0mg/day) (LT 640 g/day) Uroporphyrin Protoporphyrin (LT 1830 g/day) Co proporphyrin Protoporphyrin (LT 80 g/day) Remission 3000 3000 1 157 1 395 91.9 28.8 47. 1 3442 l 45 10.2 1 067 44 5875 201 (LT 2.0 g/dl) 3. 42 0.67 (15-60 g/dl) 58.2 31.S PATHOLOGICAL FINDINGS An autopsy was performed 2 hour post mortem. The liver weighed 1530 gm, and had a granular, red-brown surface. The cut surface showed yellow nodules with thin septa (Fig. 1). Histologic examination of the liver showed chronic active hepatitis (precirrhosis); portal lymphocytic infil- tasis; and deposits of brown pigments in the bile canaliculi (Fig. 2). No siderosis was detected in the deposits. By fluorescence microscopy, red auto-fluorescence was observed in all parts of the formalin fixed frozen section, and intense red autofluorescence was observed at the deposits, under ultraviolet light (Fig. 3). There was nerve cell chromatolysis at the plexuses of Auerbach in the small intestine and colon (Fig. 4). tration, fibrosis; destruction of the limiting plates; choles- Fig. 1. The cut surface of the liver shows yellow nodules with thin septa Fig. 3. Liver: (formalin fixed frozen section). Red autofluorescence was observed under ultraviolet light (Fluorescence Micros- copy x 40) Fig. 2. Liver: The specimen shows portal lymphocytic infiltration, fibrosis and destruction of limiting plates (precirrhosis) with deposits of brown pigment in the bile canaliculi (HE X 40) Fig. 4. Colon: The specimen shows nerve cell chromatolysis at the plexuses of Auerbach in the small intestine (HE X 100)