What is the acute intermittent porphyria?

What is the acute intermittent porphyria?

Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). This enzyme deficiency can result in the accumulation of porphyrin precursors in the body.

What causes acute intermittent porphyria?

Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase.

What medications should be avoided with porphyria?

These include, but are not limited to, certain anesthetics, antihistamines, antiepileptics, antihyperglycemics (like those used to treat diabetes), some antibiotics, and some heart medicines. Sex hormone treatments for women, such as implanted or injected contraceptives, can also cause acute porphyria attacks.

What are the symptoms of acute intermittent porphyria?

Acute porphyrias

• Severe abdominal pain.
• Pain in your chest, legs or back.
• Constipation or diarrhea.
• Nausea and vomiting.
• Muscle pain, tingling, numbness, weakness or paralysis.
• Red or brown urine.
• Mental changes, such as anxiety, confusion, hallucinations, disorientation or paranoia.
• Breathing problems.

Can AIP cause death?

AIP attacks can be very serious. And symptoms may get worse over time. Untreated attacks can cause serious damage to your nervous system —including paralysis, and even death.

What part of the body does porphyria affect?

Porphyria occurs when the body cannot convert compounds called ‘porphyrins’ into heme. While all tissues have heme, those that use it the most are the red blood cells, liver and bone marrow. Porphyria can affect the skin, nervous system and gastrointestinal system. More women than men are affected by porphyria.

How rare is acute intermittent porphyria?

Increased urine PBG excretion in a known AIP patient is therefore not necessarily diagnostic of an acute attack. Affected Populations: The exact incidence and prevalence of symptomatic AIP is unknown. In Europe the prevalence is estimated to be approximately 5.9 per million people in the general population.

Can you take ibuprofen with porphyria?

Aspirin, ibuprofen, indomethacin, ketoprofen, flurbiprofen, phenylbutazone, naproxen, prednisolone, and penicillamine did not increase ALA synthase activity and should be safe in porphyria.

How do you test for acute intermittent porphyria?

A spot urine test for porphobilinogen can rapidly provide the diagnosis; these tests detect porphobilinogen at levels greater than 6 mg/L. A common error is to order a urine porphyrin screen. Porphobilinogen, a porphyrin precursor, usually is not included in a urine porphyrin screen; it must be ordered specially.

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.

Which drugs cause porphyria?

In general, drugs that lead to increased activity of the hepatic P450 system, such as phenobarbital, sulfonamides, estrogens, and alcohol, are associated with porphyria.

Who in the royal family had porphyria?

Rushton bases his diagnosis of porphyria on the work of the psychiatrists and amateur historians, mother and son duo, Ida Macalpine and Richard Hunter, who categorically stated that King George III was not ‘mad’ at all but suffered from the undiagnosed medical condition acute intermittent porphyria.

Does porphyria still exist?

The precise prevalence of porphyria is unclear, but it is estimated to affect between 1 and 100 per 50,000 people. Rates are different around the world. Porphyria cutanea tarda is believed to be the most common type.

Can porphyria make you go crazy?

Acute intermittent porphyria mimics a variety of commonly occurring disorders and thus poses a diagnostic quagmire. Psychiatric manifestations include hysteria, anxiety, depression, phobias, psychosis, organic disorders, agitation, delirium, and altered consciousness ranging from somnolence to coma.

How common is acute intermittent porphyria?