In acute hepatic porphyria, enzymes involved in heme biosynthesis are deficient, resulting in the accumulation of porphyrins and their precursors in the body due to deficiencies. In this blog post, we examine the causes, symptoms, diagnosis, treatment, and prevention of acute hepatic porphyria.
The cause of acute hepatic porphyria is a mutation in a gene that produces heme-synthesis enzymes. Delta-aminolevulinic acid synthase (ALAS), porphybilinogen deaminase (PBGD), hydroxymethylbilane synthase (HMBS), and uroporphyrinogen III synthase (UROS) are some of these enzymes. Porphyrins and their precursors accumulate when these enzymes are lacking, causing acute porphyria symptoms.
Acute hepatic porphyria may cause the following symptoms:
Acute hepatic porphyria is characterized by severe, colicky abdominal pain.
Patients may experience a variety of neurological symptoms, including peripheral neuropathy, muscle weakness, seizures, and psychiatric disturbances such as anxiety, depression, or hallucinations.
The autonomic nervous system may be involved in symptoms such as tachycardia, hypertension, constipation, and urinary retention.
When exposed to the sun, some individuals may experience skin manifestations such as photosensitivity, blistering, and hyperpigmentation.
The diagnosis of acute hepatic porphyria involves a combination of medical history, physical examination, laboratory tests, and genetic testing. Diagnostic assessments may include:
Blood and urine tests can detect elevated levels of porphyrins and their precursors.
Heme synthesis enzyme deficiencies can be identified by enzyme assays.
A genetic test can identify specific gene mutations associated with acute hepatic porphyria.
To evaluate for other possible causes of abdominal pain, imaging tests such as abdominal ultrasound or CT scan may be performed.
Patients with acute hepatic porphyria are treated by managing symptoms and preventing acute attacks. Treatment options include:
During acute attacks, intravenous heme therapy can alleviate symptoms by reducing the accumulation of porphyrins.
Manage abdominal pain with pain medications such as opioids or nonsteroidal anti-inflammatory drugs (NSAIDs).
In acute attacks, intravenous fluids and glucose supplementation may be necessary to maintain hydration and energy levels.
In order to prevent acute attacks, patients should avoid known triggers such as certain medications, alcohol, fasting, and exposure to sunlight.
It is important to avoid triggers and manage underlying factors that can precipitate acute attacks in order to prevent acute hepatic porphyria. Some preventative measures include:
Medications that exacerbate porphyria symptoms, such as antibiotics, anticonvulsants, and hormones, should be avoided.
Acute attacks can be triggered by alcohol consumption, so it should be avoided or limited.
Patients should wear protective clothing, use sunscreen, and avoid prolonged exposure to sunlight.
In order to manage symptoms and prevent complications, patients with acute hepatic porphyria should receive regular medical monitoring and follow-up care.
