From the Guidelines
Variegate porphyria (VP) is a rare genetic disorder characterized by acute neurovisceral symptoms due to abnormal accumulation of porphyrin precursors, resulting from mutations in the PPOX gene, and is one of the acute hepatic porphyrias (AHPs) that includes acute intermittent porphyria, hereditary coproporphyria, and 5-aminolevulinic acid dehydratase deficiency porphyria 1.
Key Characteristics of Variegate Porphyria
- Results from mutations in the PPOX gene, leading to accumulation of porphyrin precursors
- Presents with acute neurovisceral symptoms, including severe abdominal pain, nausea, vomiting, constipation, muscle weakness, neuropathy, tachycardia, and hypertension
- Autosomal dominant disorder, with a prevalence of symptomatic AHPs thought to affect approximately 1 in 100,000 patients
- Diagnosis involves measuring elevated porphyrins in urine, stool, and plasma, with a characteristic plasma fluorescence emission peak at 626 nm
Management of Variegate Porphyria
- Avoiding triggers such as certain medications (barbiturates, sulfonamides, estrogens), alcohol, fasting, and infections is crucial in managing VP 1
- During acute attacks, treatment consists of intravenous hemin (Panhematin) at 3-4 mg/kg daily for 3-4 days, along with high carbohydrate intake (300-400g daily) and symptomatic treatment with safe analgesics like acetaminophen
- Long-term management focuses on trigger avoidance, sun protection with clothing and high-SPF sunscreen, and genetic counseling since the condition follows autosomal dominant inheritance
- Regular monitoring of liver function is recommended as some patients may develop hepatocellular carcinoma
- Patients should carry medical alert identification and maintain a list of safe and unsafe medications
Importance of Early Diagnosis and Treatment
- Early diagnosis and treatment of VP are essential to prevent long-term complications and improve quality of life
- Delayed diagnosis can lead to increased morbidity and mortality, with a delay of more than 15 years from initial presentation often reported 1
- Recent advances in treatment have improved the outlook for patients with AHP, highlighting the importance of staying up-to-date with the latest clinical practice guidelines 1
From the FDA Drug Label
The provided drug label text does not directly describe Variegate Porphyrias (VP) as a type of acute Porphyria. The FDA drug label does not answer the question.
From the Research
Definition and Classification of Variegate Porphyrias (VP)
- Variegate Porphyria (VP) is one of the hepatic porphyrias that results from the deficiency of protoporphyrinogen oxidase, an enzyme in the heme synthesis pathway 2.
- VP is classified as an acute porphyria, which presents with neurovisceral symptoms and cutaneous manifestations 3, 4.
- The name porphyria variegata refers to its many presentations, which include various neuropsychiatric and cutaneous manifestations 2.
Clinical Manifestations of VP
- Emergency department (ED) presentations due to VP are most commonly neuropathic abdominal pain 2.
- Patients with variegate porphyria (VP) present after puberty with neurovisceral symptoms and skin manifestations 5.
- VP can present with both acute and cutaneous clinical manifestations 4.
Treatment and Management of VP
- Intravenous dextrose and heme administration remain the first-line treatment for abdominal pain attributable to known acute hepatic porphyria attacks, including VP 2.
- Liver transplantation (LT) may be needed for patients with a life-threatening acute porphyria attack or for patients with recurrent acute attacks refractory to prophylactic treatment, including VP 5, 3, 6, 4.
- LT is curative for acute porphyrias, including VP 3, 6.