From the Guidelines
The management of porphyria should focus on preventing and treating acute attacks, as well as providing long-term care, with the cornerstone of management including discontinuation of porphyrinogenic drugs and chemicals, administration of oral or intravenous dextrose and intravenous hemin, and use of analgesics and antiemetics, as recommended by the most recent guidelines 1. The key to managing porphyria is to identify and avoid triggers that can precipitate acute attacks, such as fasting, alcohol, smoking, and certain medications, and to provide patient education on trigger avoidance and genetic counseling for family members 1. For acute attacks, immediate interventions include:
- Administering intravenous hemin (3-4 mg/kg daily for 3-4 days)
- High-carbohydrate intake (300-500g daily)
- Pain control with opioid analgesics
- Anti-emetics for nausea
- Careful medication selection for seizures, with benzodiazepines being preferred Some patients may benefit from prophylactic hemin infusions (weekly or biweekly) or newer treatments like givosiran, which reduces ALA synthase 1 production, administered as monthly subcutaneous injections (2.5 mg/kg) 1. Liver transplantation may be considered in severe cases, and genetic testing can confirm the diagnosis of AHP type after initial treatment 1. It is essential to note that the diagnosis of porphyria can be made by measuring urinary/plasma ALA and PBG, and if results are normal, it can be used to rule out an acute porphyria 1. Overall, a comprehensive approach to managing porphyria is crucial to address both the biochemical basis of the disease and the clinical manifestations that result from neurovisceral damage. Key points to consider in the management of porphyria include:
- Discontinuation of porphyrinogenic drugs and chemicals
- Administration of oral or intravenous dextrose and intravenous hemin
- Use of analgesics and antiemetics
- Patient education on trigger avoidance
- Genetic counseling for family members
- Consideration of prophylactic hemin infusions or newer treatments like givosiran
- Liver transplantation in severe cases.
From the FDA Drug Label
For mild porphyric attacks (mild pain, no vomiting, no paralysis, no hyponatremia, no seizures), a trial of glucose therapy is recommended while awaiting hemin treatment or if hemin is unavailable. For moderate to severe attacks, immediate hemin treatment is recommended Symptoms of severe attacks are severe or prolonged pain, persistent vomiting, hyponatremia, convulsion, psychosis, and neuropathy. In addition to treatment with PANHEMATIN, consider other necessary measures such as the elimination of triggering factors.
The management strategy for patients with porphyria includes:
- Glucose therapy for mild attacks
- Hemin treatment for moderate to severe attacks
- Elimination of triggering factors
- Monitoring of urinary concentrations of δ-aminolevulinic acid (ALA), porphobilinogen (PBG), uroporphyrin, and coproporphyrin during treatment 2
- The dose of PANHEMATIN is 1 to 4 mg/kg/day of hematin for 3 to 14 days based on the clinical signs 2
From the Research
Management Strategy for Patients with Porphyria
The management strategy for patients with porphyria involves a combination of treatments and lifestyle modifications. The specific approach depends on the type of porphyria and the severity of symptoms.
- Acute Porphyrias: Treatment includes elimination of any porphyrogenic factor and symptomatic treatment 3. Carbohydrate and intravenous heme administration constitute specific therapies in the disorders' acute phase 3. Early therapy with heme arginate is the treatment of choice in the acute phase 4.
- Cutaneous Porphyrias: The mainstay treatment is avoidance of sunlight exposure 3. In porphyria cutanea tarda, specific treatment is accomplished by a series of phlebotomies and/or by low-dose chloroquine administration 3, 5.
- Erythropoietic Protoporphyria: Light-protective beta-carotene is prescribed 3.
- Lifestyle Modifications: Patients should avoid triggering factors such as certain drugs, alcohol, and estrogen 4, 5. A special identification card and an up-to-date list of safe drugs can help patients avoid porphyrinogenic drugs 4.
- Supportive Care: Treatment of pain and vomiting is important during acute attacks 6. Patients may also require hospitalization and treatment for other complications such as hypertension, renal failure, and seizures 6.
Patient Perspective
Patients with acute intermittent porphyria who experience frequent attacks report significant limitations in their ability to function across multiple domains of their lives on a regular basis 7. They describe attacks as the onset of unmanageable symptoms that generally last 3-5 days, requiring hospitalization and/or treatment 7. Chronic symptoms such as pain, nausea, fatigue, and neuropathy are also common 7.