Acute intermittent porphyria (AIP), an autosomal dominant inborn error of metabolism, is the most common and severe form of the acute porphyrias. Attacks of severe abdominal pain, often with hypertension, tachycardia, are cardinal features of AIP, often requiring hospital admissions. Frequent recurrent attacks of AIP, defined as >3 attacks in one year, during which at least one attack requires intravenous heme therapy, are associated with significant morbidity, lost productivity, and health care burden. We report two patients with such frequent attacks of AIP, who have been managed with prophylactic heme therapy on a weekly basis. We describe results particularly in relation to symptom control, biochemical findings, health care costs, quality of life, and utilization of resources. During 11-month duration of weekly prophylactic heme infusions, we observed a 100% decrease in acute attacks and inpatient admissions in one subject and a 75% decrease in the other. During this time, we also observed a significant decrease in the number of emergency room visits. The decrease in number of acute attacks requiring hospital admission was associated with significantly decreased health care costs and improved quality of life. Reduction of both emergency room visits and hospital admissions decreased the utilization of health care services. Outpatient weekly infusions were also noted to be associated with better reimbursements and reduced overall costs of health care for the subjects. Both our subjects also endorsed better symptom control, quality of life and better understanding of disease. Thus, prophylactic heme therapy, through a multi-disciplinary approach, decreases the incidence of acute attacks, decreases health care costs and leads to better patient satisfaction and quality of life.
Hyponatremia is the most common electrolyte abnormality encountered both in the inpatient and outpatient clinical settings in the United States. Rapid correction leads to a deranged cerebral osmotic gradient causing osmotic demyelination syndrome. Coexisting azotemia is considered to be protective against osmotic demyelination syndrome owing to its counteractive effect on osmolarity change that occurs with rapid hyponatremia correction. In this article, we report the case of a 37-year-old male who presented with altered mentation, acute azotemia, and severe electrolyte derangements, with serum blood urea nitrogen 160 mg/dL, creatinine 8.4 mg/dL, sodium 107 mEq/L, potassium 6.1 mEq/L, bicarbonate 7 mEq/L, and anion gap of 33. Given refractory hyperkalemia with electrocardiogram changes, emergent dialysis was performed. Despite our efforts to avoid rapid correction, serum sodium was corrected to 124 mEq/L and blood urea nitrogen decreased to 87 mg/dL at the end of the 5-hour dialysis session. Fortunately, hospital course and 4-week post-discharge clinic follow-ups were uncomplicated with no neurological sequela confirmed by neurological examination and magnetic resonance imaging.
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