Online Case Investigations: Multidisciplinary Evaluations of Acute Hepatic Porphyria - How Can We Improve Recognition and Treatment?

Target Audience
This educational activity is directed toward hepatologists, gastroenterologists, OB-GYNs, neurologists, emergency department physicians, and primary care physicians who treat patients with AHP. Other health care professionals interested in the treatment of AHP are invited to participate.

Program Overview
Acute hepatic porphyria (AHP) is a rare genetic disease associated with the heme biosynthetic pathway of the liver. AHP is caused by enzymatic defects that result in the accumulation of toxic intermediates in the liver. It can present clinically in the form of acute neurovisceral attacks characterized by neuropathic pain, mostly abdominal, and may be accompanied by muscular pain, nausea, vomiting, constipation, general malaise, fatigue, as well as psychiatric and neurological symptoms. Because AHP symptoms are nonspecific, they are often misdiagnosed as those of other, more common conditions, and are therefore, not adequately treated. These nonspecific symptoms may also lead to unnecessary, ineffective surgical interventions, such as appendectomy, cholecystectomy, and hysterectomy. Nonspecific symptoms, coupled with nondiagnostic evaluations, result in a mean delay in diagnosis of approximately 15 years.

This Online Case Investigations format has been specifically designed to increase knowledge and competence surrounding rare and ultrarare diseases. Considering how the symptoms of AHP often resemble those of other diseases that may be evaluated by neurologists, gastroenterologists, emergency department physicians, and OB-GYNs, educating these health care providers about the pathophysiology, signs and symptoms, proper diagnosis, and optimal treatment of AHP is of utmost importance. This format includes in-depth, challenging patient cases in each of these respective practices, as an extremely effective way to ensure that patients with AHP can be diagnosed and treated in a safe, timely manner.

Learning Objectives
Upon completion of this activity, you should be better able to:

Review the epidemiology, risk factors, and pathophysiology of AHP
Analyze and assess the symptomatology and diagnosis of AHP
Evaluate the latest data on the efficacy and safety of current AHP therapies and the importance of a multidisciplinary team