SHM Converge Scientific Abstract ePoster Gallery-Recurrent Acute Intermittent Porphyria (Aip) Attacks in a Male

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This case report describes a 26-year-old man with recurrent acute intermittent porphyria (AIP) attacks presenting with 3 days of severe periumbilical abdominal pain worsened by eating, bilateral facial numbness, and significant nausea, vomiting, and diarrhea. He had experienced eight similar episodes over 18 months with weight loss. Because AIP is often difficult to diagnose, the report emphasizes the need for a high index of suspicion, especially during acute attacks and when neurological findings such as peripheral neuropathy are present.<br /><br />AIP is an autosomal dominant disorder caused by deficiency of porphobilinogen deaminase in the heme synthesis pathway. It is a subtype of acute hepatic porphyria, with an estimated U.S. prevalence of 5–10 per 100,000 and a mean diagnosis age of 33. Recurrent attacks occur in 3–8% of patients and are more common in women. Common triggers include alcohol, drugs, fasting, and infection.<br /><br />During attacks, depletion of hepatic heme induces ALAS1, increasing ALA and PBG production. In this patient, urine testing showed markedly elevated porphobilinogen and aminolevulinic acid, confirming the diagnosis. He was admitted due to severe symptoms and treated with IV dextrose, supportive care for nausea and pain, and five doses of IV hemin, resulting in complete resolution before discharge.<br /><br />The report highlights that AIP should be considered in patients with severe abdominal pain and unrevealing initial testing, and that a thorough history and physical examination are essential. It also notes that carbohydrate loading can help suppress ALAS1, and that givosiran, an RNA-interference therapy approved for acute hepatic porphyria, has been used off label for AIP.

Asset Subtitle

Rehan Choudhury

Meta Tag

Author List Emily Lowe, Irmina J. Swiostek, Maggie Kuussinen, Maria G. Frank, Rehan Choudhury, Taylor Crist

Category Clinical Vignettes

Concept Acute Intermittent Porphyria

Concept Porphobilinogen Deaminase

Concept Abdominal Pain

Concept Porphobilinogen

Concept Intravenous Hemin

Distinguished Non-Finalist

Presenter Organization University of Colorado School of Medicine

Presenting Author Rehan Choudhury

Track Adult

Keywords

acute intermittent porphyria

AIP

abdominal pain

peripheral neuropathy

porphobilinogen

aminolevulinic acid

hemin therapy

ALAS1

acute hepatic porphyria

givosiran

Acute Intermittent Porphyria

Porphobilinogen Deaminase

Abdominal Pain

Porphobilinogen

Intravenous Hemin