Bloomer J R, Phillips M J, Davidson D L, Klatskin G
Am J Med. 1975 Jun;58(6):869-82. doi: 10.1016/0002-9343(75)90644-0.
Two sisters had erythropoietic protoporphyria and a spectrum of liver disease. One (F.B.) died in hepatic failure within 3 months after the development of jaundice. Only 10 months before she died, she had exhibited only bromsulfalein retention and a borderline increase in serum transaminase. Surgical exploration because of the jaundice revealed patency of the bile ducts which was confirmed at autopsy. Wedge biopsy and autopsy specimens of liver showed an active cirrhosis with massive amounts of protoporphyrin in Kupffer cells, portal histiocytes, bile canaliculi and parenchymal cytoplasm. The other sister (L.R.) had never had symptomatic liver disease and only a slight increase in serum transaminase and bromsulfalein retention. On needle biopsy, the liver specimen showed portal inflammation with erosion of limiting plates, occasional bridging between triads and central areas of cell dropout. Protoporphyrin pigment was present in portal histiocytes, areas of central collapse and, more rarely, in parenchymal cytoplasm. These studies demonstrate that significant, progressive hepatic disease may occur insidiously in erythropoietic protoporphyria, and that once jaundice appears it may be followed rapidly by fatal hepatic failure.
两姐妹患有红细胞生成性原卟啉病及一系列肝脏疾病。其中一人（F.B.）在黄疸出现后3个月内死于肝功能衰竭。就在她去世前10个月，她仅表现出溴磺酚酞潴留及血清转氨酶轻度升高。因黄疸进行手术探查发现胆管通畅，尸检证实了这一点。肝脏楔形活检及尸检标本显示为活动性肝硬化，库普弗细胞、门脉组织细胞、胆小管及实质细胞质内有大量原卟啉。另一姐妹（L.R.）从未有过有症状的肝脏疾病，仅血清转氨酶轻度升高及溴磺酚酞潴留。肝穿刺活检显示门脉炎症伴界板侵蚀，偶尔汇管区与中央区之间有桥接及细胞脱失区。原卟啉色素存在于门脉组织细胞、中央塌陷区，较少见于实质细胞质内。这些研究表明，红细胞生成性原卟啉病可能隐匿地发生严重的进行性肝脏疾病，一旦出现黄疸，可能很快就会继以致命的肝功能衰竭。
