A 27-year-old man bearing an erythropoietic protoporphyria (EPP)-associated ferrochelatase (FECH) mutation was admitted to our hospital for general malaise and marked elevation of the serum levels of hepatobiliary enzymes and bilirubin. Initial treatment with plasma exchange did not reduce the blood protoporphyrin or serum liver enzyme levels, so phlebotomy was started. Surprisingly, weekly phlebotomy normalized the serum levels of liver enzymes, accompanied by a marked reduction in the blood protoporphyrin levels. The clinical course of this case strongly suggests that phlebotomy may be a suitable treatment option for EPP-related hepatopathy.
Liver Diseases/etiology , Liver Diseases/therapy , Phlebotomy , Protoporphyria, Erythropoietic/complications , Adult , Ferrochelatase/genetics , Humans , Liver/enzymology , Liver Diseases/enzymology , Male , Mutation , Protoporphyrins/blood
Most fetal goitrous hypothyroidisms are reportedly caused by the maternal use of an antithyroid drug or fetal dyshormonogenesis. However, fetal goitrous hypothyroidism due to the transplacental passage of maternal thyroid stimulation-blocking antibody (TSBAb) is extremely rare. A woman at 28 weeks of gestation was found to have a fetal goiter by ultrasonography. Because the maternal serum showed hypothyroidism with an elevated titer of TSBAb, levothyroxine sodium was administered. The patient delivered a male infant, 3,412 g, with a goiter at term. Umbilical blood revealed primary hypothyroidism with increased TSBAb, and the infant was given levothyroxine sodium. After a month, neonatal thyroid function and TSBAb levels became normal. Attention should be paid to possible fetal hypothyroidism when a fetal goiter is observed to avoid impaired mental development of the neonate.
Congenital Hypothyroidism , Fetal Diseases/immunology , Goiter/congenital , Immunoglobulins, Thyroid-Stimulating/blood , Adult , Congenital Hypothyroidism/diagnostic imaging , Congenital Hypothyroidism/drug therapy , Congenital Hypothyroidism/immunology , Female , Fetal Diseases/diagnostic imaging , Fetal Diseases/physiopathology , Goiter/diagnostic imaging , Goiter/drug therapy , Goiter/immunology , Hormone Replacement Therapy , Humans , Hypothyroidism/blood , Hypothyroidism/drug therapy , Hypothyroidism/immunology , Infant, Newborn , Male , Maternal-Fetal Exchange/immunology , Pregnancy , Pregnancy Complications/blood , Pregnancy Complications/drug therapy , Pregnancy Complications/immunology , Pregnancy Trimester, Third , Prenatal Diagnosis , Thyroxine/therapeutic use , Treatment Outcome , Ultrasonography
