What are the symptoms of acute intermittent porphyria?

Signs and symptoms of acute porphyria may include:

What is acute intermittent porphyria caused by?

AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones , drugs, and dietary changes may trigger symptoms.

What does a porphyria attack feel like?

The most commonly reported symptoms associated with attacks include severe pain affecting the abdomen, back, or limbs; nausea and vomiting; high blood pressure; motor weakness; insomnia; or anxiety. Generally, porphyria attacks last five to seven days, although more severe ones can last longer.

Why is porphyria called the vampire disease?

Porphyria cutanea tarda (PCT) is a type of porphyria or blood disorder that affects the skin. PCT is one of the most common types of porphyria. It’s sometimes referred to colloquially as vampire disease. That’s because people with this condition often experience symptoms following exposure to sunlight.

How do you treat AIP?

Treatment for AIP also includes drugs to treat specific symptoms such as certain pain medications (analgesics), anti-anxiety drugs, anti-hypertensive drugs, and drugs to treat nausea and vomiting, tachycardia, or restlessness.

What foods should be avoided with porphyria?

People with porphyria are advised to maintain a diet with an average or higher-than-average intake of carbohydrates, which can lessen disease activitybut they are also advised to avoid refined sugars, corn syrup and heavily processed foods.

Is AIP hereditary?

AIP is inherited in an autosomal dominant fashion, which means only one of the two HMBS genes needs to have a disease-causing mutation to decrease enzyme activity and cause symptoms.

How do you test an AIP?

Initial testing If AIP is suspected, the diagnosis should be confirmed with a porphobilinogen (PBG) urine test. Prompt treatment of symptoms and disease-specific therapy should follow. Urinary PBG levels are substantially increased (20200 mg/L) in patients with acute attacks of AIP and other acute porphyrias.

What causes red urine in acute intermittent porphyria?

Diagnosis of Acute Intermittent Porphyria Levels of these precursors are very high during attacks and remain high in people who have repeated attacks. The precursors can form porphyrins, which are reddish. These porphyrins turn the urine red to red-brown.

How long does acute porphyria last?

Porphyria attacks typically last 57 days [6], although more severe or prolonged attacks can occur, potentially causing paralysis, respiratory failure, and death [7, 8]. AIP attacks can also lead to frequent hospitalizations [2], long-term use of opioids [2, 9], and high rates of unemployment [10].

What is the life expectancy of someone with porphyria?

Patients with porphyria generally have a normal life expectancy. However, those with acute hepatic porphyria are at increased risk of developing high blood pressure, chronic kidney disease, and hepatocellular carcinoma (liver cancer), which may reduce their lifespan.

What is porphyrin ring?

A porphyrin is a large ring molecule consisting of 4 pyrroles, which are smaller rings made from 4 carbons and 1 nitrogen. These pyrrole molecules are connected together through a series of single and double bonds which forms the molecule into a large ring. … The model of a general porphyrin is called porphin.

Is Porphobilinogen a porphyrin?

Porphobilinogen (PBG), a porphyrin precursor, in urine. Delta-aminolevulinic acid (ALA), another porphyrin precursor, in urine.

What is acute porphyria?

Acute porphyrias are a group of rare disorders characterized by an enzymatic defect in the heme biosynthetic pathway. Patients present with acute, debilitating, and at times life-threatening symptoms that may be precipitated by medications, hormonal changes, starvation, or other factors.

Can you donate blood if you have porphyria?

Must not donate if: If the potential donor suffers from Acute Porphyria, Acute Intermittent Porphyria (AIP), Varigate Porphyria (VP) or Hereditary Coproporphyria (HCP), it is 12 months or more since their last acute attack and they have no current skin lesions, accept.

What is an AIP diet?

The AIP is an elimination diet, so it involves not eating certain types of food for several weeks at a time and carefully noting any effects on health. Researchers have described the AIP diet as an extension of the paleo diet. A person usually eats lean proteins, vegetables, fruits, nuts, and seeds.

What causes porphyria attacks?

Anything that stimulates the enzymes in the porphyrin pathway that leads to a rapid increase in porphyrins can cause acute porphyria attacks. Some common triggers are alcohol, some medications, liver disease, smoking, cannabis, and hormonal changes (such as those women experience during the menstrual cycle).

Can you drink with porphyria?

A few patients also report that phototoxic reactions are more likely after drinking alcohol. Those with acute porphyria (AIP, VP, HCP and ADP) should be very cautious with alcohol as it is a common trigger for acute attacks. This is particularly important for those who have had attacks in the past.

Can porphyria cause weight gain?

Unfortunately, because of the therapeutic high carbohydrate intake, patients with hepatic porphyrias are prone to weight gain. Losing excess weight is very difficult for some of these patients because of fasting-induced acute attacks.

Does sugar help porphyria?

The protein may be in the form of animal or vegetable protein. The carbohydrates should preferably not include large amounts of refined sugars or high fructose corn syrup, although oral or intravenous carbohydrate in the form of dextrose may be prescribed for therapy of acute attacks of Porphyria.

What medications should be avoided with porphyria?

Which medications should be avoided by patients with porphyria?

How rare is acute hepatic porphyria?

In the majority of European countries, the prevalence of acute hepatic porphyrias is around 1/75,000. In 80% of cases the patients are female, with the majority aged between 20 to 45 years.

Who treats acute intermittent porphyria?

If you have signs and symptoms of porphyria, you’re likely to start by seeing your primary care provider. However, because porphyria can be difficult to diagnose, you may be referred to a doctor who specializes in blood disorders (hematologist).

When should you suspect porphyria?

Therefore, it is currently recommended that patients undergo screening by liver imaging for early detection at least yearly after age 50, especially if porphobilinogen (PBG) remains elevated.

Does acute intermittent porphyria cause anemia?

Two types of cutaneous porphyria, congenital erythropoietic porphyria and, less commonly, hepatoerythropoietic porphyria, may cause severe anemia. These diseases may also cause the spleen to become enlarged, which can make anemia worse.

Why there is hyponatremia in acute intermittent porphyria?

Singleton hospital, Swansea, United Kingdom. Acute intermittent porphyria (AIP) is an autosomal dominant disease due to deficient Porphobilinogen (PBG) deaminase activity. Hyponatremia, found in approximately 20% of symptomatic AIP, is often due to inappropriate ADH secretion (SIADH).