Abstract
Background
The acute porphyrias are a group of 4 genetic disorders resulting from a deficiency in a specific enzyme of the heme biosynthetic pathway (1). Without prompt treatment, these disorders can cause acute life-threatening attacks of neurovisceral symptoms, the most common being abdominal pain, nausea, vomiting, mental symptoms, paresis, and tachycardia (1). Frequent, non cyclic attacks can sometimes be prevented with weekly or bi-weekly infusions of hemin (2).
Case Report
A 25-year-old female was initially diagnosed with acute intermittent porphyria (AIP) at 16 years of age. Her initial presenting symptoms included acute abdominal pain, nausea, vomiting, and a seizure. The patient was subsequently diagnosed by the evidence of elevated urinary porphobilinogen levels. She was initially treated with fluids (D5W) and then with hemin (313mg) for 3 days. The patient is a smoker and occasionally drinks alcohol. At 22 years of age, she was hospitalized for her fifth acute attack of AIP and received treatment with fluids and a course of hemin (313mg) for three days. Her condition improved and she was discharged. Two days later, her condition deteriorated and she was readmitted. She developed pneumonia, hyponatremia, seizures, and mental-status changes. The patient became tetraplegic and developed progressive respiratory failure requiring ventilatory support. She remained comatose for a period of 48 hours. Diagnostic studies included a noncontrast CT scan of the abdomen/pelvis which was unremarkable and EMG nerve conduction studies demonstrating polyneuropathies. Treatment included D5W, then increased to D10W. Following placement of a PICC line, hemin (313mg) was administered daily. Hemin therapy was continued daily for a period of three weeks and then stepped down to twice/week (313mg) every week in a prophylactic fashion. Her hospital course was prolonged as a result of the following: MRSA, VRE, superventricular tachycardia, arrhythmias, fungal infection, pulmonary infection and a clot in her right subclavian vein. She also experienced intermittent mental status changes. She was discharged to a rehabilitation center following her 11 month hospital stay. Upon discharge, her paresis had resolved, although a loss of motor function persisted. The patient was discharged with hemin therapy for prophylaxis twice/week (313mg with albumin 25%) via a portacath. She has experienced one acute attack of AIP during her course of prophylaxis during a three year period. The patient’s current medical status is that she is alert and oriented with the ability to work from home utilizing a telephone and computer. She remains wheel chair bound with loss of motor function.
Discussion:
Delay of treatment, and the delay in treating the pathophysiology of the disease itself can cause life-threatening attacks. Acute intermittent Porphyria is a disease that is challenging to manage in this particular patient. It is important for patients to recognize the triggers that exacerbate an attack. This particular patient still has 2 precipitating factors for acute attacks, smoking and alcohol. The prophylactic dosing regimen for this patient has been effective despite the presence of these precipitating factors. This case report is an example of the effectiveness of hemin therapy in the prevention of acute attacks of AIP.
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