Question 1

What is acute porphyria?

Accepted Answer

Acute porphyria refers to a group of rare genetic disorders that affect how the body produces heme, a component of hemoglobin. It can cause sudden and serious symptoms involving the nervous system and abdomen.

Question 2

What is acute intermittent porphyria?

Accepted Answer

Acute intermittent porphyria (AIP) is a type of acute porphyria caused by a genetic enzyme deficiency. It can lead to episodes of abdominal pain, neurological symptoms, and sensitivity to certain medications.

Question 3

What causes acute porphyria?

Accepted Answer

Acute porphyria is caused by inherited mutations in enzymes involved in heme production. Triggers like certain drugs, stress, fasting, or hormonal changes can cause symptoms to appear in affected individuals.

Question 4

What are the symptoms of acute intermittent porphyria?

Accepted Answer

Symptoms may include severe abdominal pain, vomiting, constipation, confusion, muscle weakness, dark or reddish urine, and sensitivity to light. Neurological symptoms are also common during attacks.

Question 5

How is acute intermittent porphyria diagnosed?

Accepted Answer

AIP is diagnosed through urine, blood, or stool tests that detect elevated porphobilinogen or porphyrins. Genetic testing can confirm the enzyme deficiency and identify family carriers.
Source: NIDDK / NIH

Question 6

How is acute porphyria treated?

Accepted Answer

Treatment may include IV glucose and hemin therapy during attacks to reduce heme buildup. Long-term management involves avoiding known triggers and monitoring symptoms under medical guidance.

Question 7

Which drugs should be avoided in acute intermittent porphyria?

Accepted Answer

Certain medications, including some antibiotics, anti-seizure drugs, and hormone therapies, can trigger attacks. It’s important to consult a porphyria-safe drug list or speak with a healthcare provider before taking new medications.

Question 8

Can acute porphyria be cured?

Accepted Answer

There is no cure for acute porphyria, but symptoms can often be managed with medication, lifestyle adjustments, and avoiding known triggers. Some cases of severe, frequent attacks may benefit from newer treatments under medical supervision.

Question 9

How is acute intermittent porphyria inherited?

Accepted Answer

AIP is inherited in an autosomal dominant pattern, meaning one copy of the mutated gene from either parent can cause the disorder. Not everyone with the mutation will show symptoms.

Question 10

What enzyme deficiency is associated with acute intermittent porphyria?

Accepted Answer

AIP is caused by a deficiency in the enzyme porphobilinogen deaminase (also known as HMBS), which is essential for normal heme synthesis in the liver.

Acute Porphyria Medications