Case Report of Hereditary Coproporphyria Accompanied by Nystagmus and Vestibular Dysfunction

Abstract

Porphyria is a collection of disorders resulting from a breakdown in heme synthesis. The most common form is acute intermittent porphyria (AIP), and the other disorders are less common and therefore more difficult to diagnose. Our case study focuses on a 39-year-old male with a combination of gastrointestinal symptoms as well as neurocutaneous manifestations. Failing to recognize this disorder in the primary care setting can lead to additional, sometimes repetitive, clinical investigation and negative outcome for patients. The authors believe strongly in the teamwork model for today's medicine. Close communication between specialty and primary care, as well as a broader differential, could have helped achieve an earlier diagnosis and treatment for the patient.