P3C029: Management of Contraception Failure in a Medically Complex Adolescent with Hereditary Coproporphyria

Introduction: Hereditary coproporphyria is a rare autosomal dominant genetic condition resulting in defective heme metabolism. It commonly presents after puberty with acute neurovisceral attacks. Triggers include hormonal changes and numerous medications. This case explores how hereditary coproporphyria and its management influences reproductive healthcare for these patients.

Case Description: A 19-year-old nonbinary person (assigned female at birth, she/them pronouns) with history of hereditary coproporphyria and depression presented to a family planning clinic 2 weeks after missing their period with nausea and cramping. Within the previous 4 years, they experienced several neurovisceral flares triggered by menses and contraindicated medications. They required prolonged hospital stays, multiple hemin infusions, and inpatient pain management. Patient received contraception counseling 8 months prior to presentation and chose to have a copper IUD placed. A month prior, they received their first dose of Givosiran, a siRNA therapy that reduces neurovisceral attacks. Patient endorsed sexual intercourse with their male partner and two positive urine pregnancy tests. Bedside ultrasound revealed a 7w2d intrauterine pregnancy and displaced IUD. The IUD was protruding from the cervical os on pelvic exam and was removed immediately. Patient initially requested medication abortion, but porphyria is a contraindication for this option. Options counseling discussion included: patient’s desire for parenthood; current psychosocial circumstances; increased risk for spontaneous abortion with failed IUD; possible risk for neurovisceral attacks during pregnancy; genetics counseling; and, limited data regarding the effects of Givosiran on fetal development. Ultimately, patient decided to proceed with pregnancy. Their care is co-managed by a multidisciplinary team including high risk obstetrics, pediatric hematology, and psychiatry.

Discussion: This case highlights how chronic conditions and their management can have profound impacts on medical choices. Hereditary coproporphyria in particular presents a challenge given the extensive list of contraindicated medications. Here, it significantly impacted what contraception methods and abortion options were available to the patient as well as pregnancy risks and outcomes. This case also demonstrates the importance of creating gender inclusive spaces for gender diverse patients. After the unexpected failure of a very effective form of birth control, this patient expressed feeling worried about being judged for their circumstances. Patient reported feeling more comfortable discussing their options and care after providers asked about their gender identity. Building this rapport helped the team emotionally support the patient and thus more effectively engage in shared decision making with them.

Conclusion: Internal medicine and pediatrics training uniquely prepares providers to care for adolescents with chronic conditions transitioning to adult healthcare. This transition must involve discussions about current or future reproductive plans and shared decision making on how to achieve those goals. This case demonstrates how hereditary coproporphyria influences these decisions, but the same principles can be applied to other medical conditions.