SHM Converge Scientific Abstract ePoster Gallery-The Recurrent Pain Puzzle: Decoding Acute Intermittent Porphyria

Pdf Summary

Acute intermittent porphyria (AIP) is the most common acute hepatic porphyria, caused by partial deficiency of porphobilinogen deaminase in the heme synthesis pathway. It is an autosomal dominant disorder with very low penetrance, more common in people of Northern European descent and typically affecting women of reproductive age. Because the liver overproduces neurotoxic heme precursors, patients develop acute neurovisceral attacks, most commonly severe abdominal pain, along with nausea, weakness, fatigue, and sometimes dark or reddish-brown urine from elevated porphobilin and porphyrins. Attacks can be triggered by metabolic stress, hormonal changes, certain medications, pregnancy, or caloric/carbohydrate restriction.<br /><br />The case describes a 77-year-old woman of German descent with a history of breast cancer, thromboembolic disease, atrial fibrillation, and fibromyalgia who had repeated hospitalizations for abdominal pain, nausea, profound fatigue, bilateral leg weakness, and dark urine. Initial evaluation for suspected AIP showed markedly elevated urine porphobilinogen and porphyrins, confirming the diagnosis.<br /><br />Management of AIP includes avoiding triggers and treating acute attacks with oral or IV glucose or IV hemin. In this case, the patient improved with dextrose infusion and was discharged on glucose tablets, with plans to start givosiran, an ALAS1 inhibitor used monthly to prevent recurrent attacks. The report emphasizes that AIP can be difficult to diagnose but may cause significant morbidity and even mortality, so clinicians should maintain a high index of suspicion in patients with unexplained neurovisceral symptoms. Genetic screening of family members is also recommended.

Asset Subtitle

Nkoyo Effiom

Meta Tag

Author List Albert A. Annan, Anjum Dhamani, Dhiman Basu, Nkoyo Effiom, Victor Chidi Obuekwe

Category Clinical Vignettes

Concept Acute Intermittent Porphyria

Concept Hospitalist Medicine Procedure Service

Concept Abdominal Pain

Concept Porphobilinogen

Concept Hemin

Distinguished Non-Finalist

Presenter Organization Texas Health Resources HEB/Denton

Presenting Author Nkoyo Effiom

Track Adult

Keywords

acute intermittent porphyria

AIP

porphobilinogen deaminase deficiency

heme synthesis disorder

acute neurovisceral attacks

abdominal pain

dark urine

porphobilinogen elevation

hemin treatment

givosiran

Acute Intermittent Porphyria

Hospitalist Medicine Procedure Service

Abdominal Pain

Porphobilinogen

Hemin