Acute intermittent porphyria (AIP) is an uncommon metabolic disease that impacts multiple organs and can manifest in many ways. It is often misdiagnosed due to its nonspecific symptoms. Neurovisceral signs and symptoms should alert physicians to consider AIP in the differential after excluding more common causes. Identifying the underlying cause is critical in preventing acute attacks, and trigger avoidance is the optimal approach to managing AIP. Medications that are contraindicated should be reviewed thoroughly. Prompt intravenous hematin administration is the primary treatment for acute attacks, and additional pharmacological therapies may be necessary to treat concurrent symptoms. A severe neurological manifestation of AIP is flaccid paralysis or severe motor weakness, which can develop into total quadriplegia and respiratory insufficiency. A comprehensive rehabilitation program is an integral aspect of the treatment plan. Since the incidence of this disease is low, functional prognosis is not well-known. As a result, it is challenging to determine the most appropriate structure, intensity, and duration of rehabilitation therapy. By extending the treatment plan, individuals with tetraplegia due to AIP can continue to make functional gains years after the onset of weakness. Understanding the disease's functional prognosis will aid in coordinating resources and improving healthcare expenditures.
Keywords: acute intermittent porphyria; functional status; paralysis; rare diseases; rehabilitation.
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