(Kiosk 3) Acute Rehabilitation for Acute Intermittent Porphyria: A Case Report

Case Diagnosis: 34 year old Caucasian female with medical history of Bipolar disorder, Epilepsy presents with flare of Acute Intermittent Porphyria (AIP)

Case Description: The patient was admitted to the rehabilitation unit from a tertiary care hospital after having symptoms of unsteady gait leading to multiple falls, peripheral neuropathy, increased lethargy and confusion, slurred speech, and blurry vision. Urine porphyrins tests confirmed porphyria flare, for which she completed four days of hemin infusion. Before coming to the rehabilitation unit, the patient ambulated 40 feet with a rolling walker and exhibited a shuffling gait, imbalance, fine tremors, and poor dexterity.

Discussion: AIP is an autosomal dominant disease with low penetrance with an estimated prevalence of 1 to 5 cases per 100,000 individuals and predominantly affects females between 18 to 40 years old. AIP is primarily caused by mutations in the porphobilinogen deaminase (PBGD) gene. Presentation is variable, with abdominal pain being the hallmark feature. Neurologic symptoms, including peripheral neuropathy, motor weakness, psychiatric disturbances, may be present. Treatment involves avoiding triggers, symptomatic relief, and hematin administration. Although there are no rehabilitative standards for treating AIP, rehabilitation is beneficial towards helping patients regain strength, restore mobility, and optimize daily activities after an attack.

Setting: Rehabilitation Unit

Assessment/Results: During rehabilitation course, she demonstrated significant improvements in ambulation, mobility, balance, and dexterity. Patient was able to ambulate 200 feet independently with a rolling walker and steady gait pattern and negotiate 12 steps. She also demonstrated improvements in speech and was able to independently perform activities of daily living. Urine uroporphyrin I decreased from 224 to 131 (reference range 4.1-22.4) when assessed over 2 days.

Conclusion: AIP flares can lead to debilitating symptoms which can restrict mobility and balance and have severe consequences on daily living. Rehabilitation in the acute setting can help AIP patients treat symptoms and restore functionality prior to returning home.