Long-term complications in acute porphyria.

ABSTRACT

New treatment options and low attack-related mortality have changed the life expectancy of patients with acute porphyria (AP) to that of the general population. Clinicians should therefore be aware of the long-term complications of AP, which typically include chronic neuropathy and encephalopathy, high blood pressure and porphyria-associated kidney disease. Patients have an increased risk of primary liver cancer (PLC), but no increased risk of non-hepatic cancers. Chronic pain occurs in patients with recurrent attacks, combined with chronic fatigue and nausea, leading to poor quality of life. Patients with sporadic attacks may also have chronic symptoms, which should be distinguished from mild recurrent attacks and treated appropriately. Sequels of acute polyneuropathy after an attack should be distinguished from ongoing chronic polyneuropathy, as the management is different. Overestimation of chronic neuropathy or encephalopathy caused by AP should be avoided, and other causes should be treated accordingly. Prevention of recurrent attacks is the best strategy for managing chronic comorbidities and should be actively accomplished. Hormonal interventions in female patients, or in severe cases, prophylactic givosiran or haematin, may be helpful before liver transplantation to prevent recurrent attacks. Regular monitoring can be personalised according to the patient's age, comorbidities and AP activity. Blood pressure, renal function and cardiovascular risk factors should be monitored annually in patients with previous symptoms. Appropriate medication and lifestyle management, including nutrition and hydration, are necessary to prevent complications. As PLC is common, especially in patients with acute intermittent porphyria, bi-annual surveillance after the age of 50 is important.