From the Guidelines
Porphyria is a group of rare disorders that affect heme production, causing a buildup of porphyrins in the body, and its management focuses on preventing attacks by avoiding triggers and treating acute attacks with intravenous hemin and glucose loading, as well as managing cutaneous symptoms with strict sun protection and genetic counseling. The symptoms of porphyria vary by type but commonly include acute attacks with severe abdominal pain, nausea, vomiting, constipation, and neurological symptoms like muscle weakness, sensory changes, and mental disturbances, as noted in studies such as 1. Some types cause skin manifestations including photosensitivity, blistering, fragility, and hyperpigmentation, which can be diagnosed through biochemical investigations, as recommended in 1 and 1. Key points to consider in the management of porphyria include:
- Avoiding triggers such as certain medications, alcohol, fasting, and stress, as emphasized in 1
- Treating acute attacks with intravenous hemin (Panhematin) at 3-4 mg/kg daily for 3-4 days to suppress porphyrin production, along with glucose loading (300-500g daily) either orally or intravenously, as described in 1
- Managing pain with opioids and seizures with gabapentin or levetiracetam, as many anticonvulsants can worsen porphyria, as noted in 1
- Providing strict sun protection for cutaneous symptoms, including protective clothing and high-SPF sunscreen, as recommended in 1 and 1
- Considering blood transfusions in severe cases, as mentioned in 1
- Implementing long-term management through regular monitoring of liver function, renal function, and porphyrin levels, as well as genetic counseling, as emphasized in 1 and 1
- Advising patients to carry medical alert identification and maintain a high-carbohydrate diet during illness to prevent attacks, as recommended in 1. It is essential to diagnose porphyria correctly and manage it appropriately to prevent long-term complications and improve the patient's quality of life, as highlighted in 1 and 1.
From the Research
Symptoms of Porphyria
- Neurovisceral symptoms: severe abdominal pain, vomiting, tachycardia, hypertension, hyponatremia, peripheral neuropathy, and mild mental symptoms 2
- Cutaneous symptoms: fragile erosive skin lesions in porphyria cutanea tarda (PCT) or non-scarring stinging and burning symptoms in erythropoietic protoporphyria (EPP) 2
- Neurological complications: paralysis, hyponatremia, seizures, and coma 3
- Neuropsychiatric symptoms: confusion, hallucinations, anxiety, and psychosis 3
Management of Porphyria
- Treatment of acute attacks: heme therapy to reduce aminolevulinic acid (ALA) production 2, 4
- Management of cutaneous symptoms: sun protection, iron depletion, hydroxychloroquine therapy, and elimination of hepatitis C virus 5
- Management of neurological and neuropsychiatric symptoms: intensive care, strict avoidance of porphyrinogenic drugs, and caloric support 5, 3
- Management of specific types of porphyria: