From the Guidelines
Diagnosis and Treatment of Acute Intermittent Porphyria (AIP)
Acute intermittent porphyria (AIP) is a rare genetic disorder that requires prompt medical attention, with the primary recommendation for managing AIP being to avoid triggers that can precipitate acute attacks, such as certain medications, alcohol, and stress 1.
Diagnosis
The diagnosis of AIP should be made by biochemical testing measuring ALA, PBG, porphyrins, and creatinine in a random urine sample, with significantly elevated ALA and PBG in the urine or plasma being the hallmark of acute attacks 1.
Treatment
For acute attacks, the treatment of choice is intravenous hemin (also known as hematin) at a dose of 3-4 mg/kg/day for 3-4 days, with carbohydrate loading with glucose also potentially alleviating symptoms, and pain management being crucial, using medications like morphine or other opioids 1.
Long-term Management
In terms of long-term management, patients with AIP should be advised to maintain a healthy lifestyle, avoid triggers, and seek medical attention immediately if symptoms of an acute attack occur, with regular monitoring of liver function and neurological status also recommended 1. Patients should also be counseled on the chronic and long-term complications of AHP, including neuropathy, CKD, hypertension, and HCC, and need for long-term monitoring 1.
Surveillance and Monitoring
Patients with AHP on treatment should undergo surveillance for chronic kidney disease annually with serum creatinine and estimated glomerular filtration rate, with optimal control of systemic arterial hypertension recommended to decrease additional risk factors for CKD 1.
Key Considerations
- Medication Avoidance: Avoid medications that can exacerbate the condition, such as barbiturates, sulfonamides, and ergotamines, and use safer alternatives like acetaminophen or ibuprofen for pain management 1.
- Lifestyle Modifications: Maintain a balanced diet, avoid prolonged fasting or crash dieting, and avoid alcohol and smoking, which can precipitate attacks 1.
- Genetic Counseling: All heterozygotes, whether symptomatic, ASHE, or latent, should receive appropriate genetic counseling about inheritance 1.
- Multidisciplinary Care: A comprehensive treatment plan for AIP should be individualized and managed by a multidisciplinary team of healthcare professionals, including a primary care physician, neurologist, and genetic counselor 1.
From the FDA Drug Label
The effectiveness of PANHEMATIN for the amelioration of recurrent attacks of acute intermittent porphyria was evaluated in five open-label studies, one compassionate-use study, case reports, and an observational study investigating patient reported outcomes in patients with acute porphyrias Clinical response was defined by improvement of symptoms and reduction in pain. All patients experienced a chemical response which was defined as normalization of urinary aminolevulinic acid (ALA) and porphobilinogen (PBG). Patients experienced a clinical response in 85. 5% (141/165) of treatment courses Preparations of 4 mg/ kg IV of hemin were infused at 12- or 24-hour intervals for 1 to 4 days after trials of glucose of various durations and dosages in all patients
- Diagnosis of Acute Intermittent Porphyria (AIP) is based on biochemical evidence, including elevated urinary aminolevulinic acid (ALA) and porphobilinogen (PBG) levels.
- Treatment for AIP involves administration of hemin (IV) at a dose of 3-4 mg/kg/day, once or twice daily, for 1 to 4 days, which has been shown to improve symptoms and reduce pain in 85.5% of treatment courses 2.
From the Research
Diagnosis of Acute Intermittent Porphyria (AIP)
- The diagnosis of AIP is based on the clinical criteria of an acute attack, which includes the paroxysmal nature and various combinations of symptoms, such as abdominal pain, autonomic dysfunction, hyponatremia, muscle weakness, or mental symptoms, in the absence of other obvious causes 3.
- More than fivefold elevation of urinary porphobilinogen excretion together with typical symptoms of an acute attack is sufficient to start a treatment 3.
- Fractionation of plasma and urine porphyrins can also be used to diagnose AIP 4.
- Mutation screening and identification of the type of acute porphyria can be done at the quiescent phase of the disease 3.
Treatment of Acute Intermittent Porphyria (AIP)
- The management of patients with AIP includes treatment with heme preparations, such as intravenous hemin, during an acute attack 3, 5.
- Symptomatic treatment of autonomic dysfunctions, polyneuropathy, and encephalopathy is also necessary 3.
- Exclusion of precipitating factors, such as certain medications and hormonal changes, is crucial in preventing acute attacks 3, 4.
- Adequate nutrition and fluid therapy are also important in managing AIP patients 3.
- In some cases, prophylactic heme therapy, liver transplantation, and evaluation of hormonal therapy in women may be considered 3, 6.
- High carbohydrate loading can also be used as a standard treatment for AIP 7.
Management of AIP Patients
- During remission, exclusion of precipitating factors, education of patients and family doctors, and information about online drug lists are essential 3.
- Mutation screening for family members and education about precipitating factors in mutation-positive family members are also important 3.
- Follow-up of AIP patients for long-term complications, such as chronic hypertension, chronic kidney insufficiency, chronic pain syndrome, and hepatocellular carcinoma, is necessary 3.