STEROID-INDUCED ACUTE PORPHYRIA: A RARE CASE OF UNEXPLAINED ABDOMINAL PAIN R. Hammer MD, C. Kimball MD, S. Morris, MD, J. Stencel MD Departments of Internal Medicine and Psychiatry, Tulane University Health Sciences Center, New Orleans, LA
INTRODUCTION: Porphyria variegata is one of the hepatic porphyrias that results from the deficiency of protoporphyrinogen oxidase, an enzyme in the heme synthesis pathway. The name refers to its many presentations, which include various neuropsychiatric, neurovisceral and cutaneous manifestations. During an acute attack, porphyrin precursors aminolaevulinic acid and porphobilinogen are excretedmassively from the liver because of induction of heme biosynthesis. They are neurotoxic and injure both the autonomic and peripheral nervous systems. Attacks are most frequently brought on by stress, medications, and dehydration. CASE DESCRIPTION: A38-year-oldmanwithmajor depressivedisorder, anabolic steroiduseandheavy alcohol usepresented for acuteabdominal pain. He endorsed previous episodes similar to this over the last year and had been admitted for workup twice previously with no conclusive etiology. He had been working out “a lot” and using over the counter testosterone supplementation and prescribed Wellbutrin. Social history was significant for alcohol use of ten to twenty beverages weekly. Exam was consistent with a muscular man, with abdominal pain out of proportion to exam, and an erythematous, non-vesicular rash in sun-exposed areas. Labs showed high hemogloblin of 16.3 and slightly low albumin of 3.0. Abdominal imaging was negative. In addition to pain control and rehydration, testing for heavy metal poisoning was unrevealing and a 24-hr urine porphyrin test was positive. After acute symptoms resolved he was referred to primary care and genetic testing with education on known triggers of porphyria, alcohol, extreme exercising, possibly hyper-estrogen states induced by his testosterone supplementation. DISCUSSION: The patient’s acute neurovisceral attacks of severe abdominal pain coupled with skin fragility and rash in sun-exposed area were the key features leading to the clinical diagnosis. His attacks were likely caused by dehydration and possible hormonal changes related to intense workouts with concomitant anabolic steroid use. Attacks usually arise after puberty and are more common in women. It’s very likely steroid supplementation triggered this uncommon presentation of acute porphyria in our male patient. Later in life, since 10% of patients die because of hepatoma, yearly ultrasound of the liver and measurement of serum alpha- fetoprotein should be undertaken in individuals older than age 50 years.
28
Made with FlippingBook Digital Publishing Software