Division of Hematology and Oncology, Massachusetts General Hospital, Boston, MA.
Harvard Medical School, Boston, MA.
Blood. 2023 Jun 15;141(24):2921-2931. doi: 10.1182/blood.2022018688.
Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria caused by reduced expression of ferrochelatase, the enzyme that catalyzes the final step in heme biosynthesis. The resultant accumulation of protoporphyrin IX leads to severe, painful cutaneous photosensitivity, as well as potentially life-threatening liver disease in a small percentage of patients. X-linked protoporphyria (XLP) is clinically similar to EPP but results from increased activity of δ-aminolevulinic acid synthase 2, the first step in heme biosynthesis in the bone marrow, and also causes protoporphyrin accumulation. Although historically the management of EPP and XLP (collectively termed protoporphyria) centered around avoidance of sunlight, novel therapies have recently been approved or are in development, which will alter the therapeutic landscape for these conditions. We present 3 patient cases, highlighting key treatment considerations in patients with protoporphyria, including (1) approach to photosensitivity, (2) managing iron deficiency in protoporphyria, and (3) understanding hepatic failure in protoporphyria.
红细胞生成性原卟啉症（EPP）是一种遗传性皮肤卟啉症，由亚铁螯合酶表达减少引起，该酶催化血红素生物合成的最后一步。原卟啉 IX 的积累导致严重的、疼痛的皮肤光敏感性，以及一小部分患者潜在的危及生命的肝脏疾病。X 连锁原卟啉症（XLP）在临床上与 EPP 相似，但由于骨髓中血红素生物合成的第一步 δ-氨基酮戊酸合酶 2 的活性增加而导致，也会导致原卟啉的积累。尽管 EPP 和 XLP（统称为原卟啉症）的管理历史上集中在避免阳光照射，但最近已批准或正在开发新的治疗方法，这将改变这些疾病的治疗前景。我们介绍了 3 例患者病例，重点介绍了原卟啉症患者的关键治疗注意事项，包括（1）光敏性的处理方法，（2）原卟啉症中铁缺乏的管理，以及（3）理解原卟啉症中的肝衰竭。
