• The porphyrias are metabolic disorders caused by altered activities of enzymes within the heme biosynthetic pathway in the production of porphyrins and heme. They manifest with either neurological complications or skin problems, or occasionally both.

• The term "porphyria" is derived from the Greek , porphyra, meaning "purple pigment".

• The name is likely to have been a reference to the purple discolouration of feces and urine when exposed to light in patients during an attack

• AIP is an autosomal dominant disease that results from defects in the enzyme porphobilinogen-deaminase.

• This enzyme speeds the conversion of porphobilinogen to hydroxymethylbilane.

• In AIP, the porphyrin precursors, porphobilinogen and amino-levulinicacid (ALA), accumulate.

• alcohol

• drugs, especially barbiturates, and sulphonamides;

• fluctuations in female sex hormones may also precipitate acute porphyrias

• infections

• starvation

The predominant problem appears :

• to be neurologic damage that leads to peripheral and autonomic neuropathies

• and psychiatric manifestations.

Appart from this there are complaints of:

• Severe abdominal pain

• Nausea

• Vomiting

• Constipation

• Autonomic neuropathy is damage to the nerves that manage every day body functions such as blood pressure, heart rate, bowel and bladder emptying, and digestion.

• involves damage to the nerves that run through a part of the peripheral nervous system. The peripheral nervous system includes the nerves used for communication to and from the brain and spinal cord and all other parts of the body, including the internal organs, muscles, skin, and blood vessels.

• Damage to the autonomic nerves affects the function of areas connected to the problem nerve. For example, damage to the nerves of the gastrointestinal tract makes it harder to move food during digestion (decreased gastric motility).

• Peripheral neuropathy,

• weakness and aching in muscles and joints,

• unsteady gait,

• poor co-ordination,

• numbness/ tingiling of arms and legs

• United States

Estimates vary from 1-5 cases per 100,000 population.

• International

Prevalence can be as high as 60-100 cases per 100,000 population in northern Sweden.

• Sex

In most series, AIP affects women more than men, with a ratio of 1.5-2:1.

• Age

Most patients become symptomatic at age 18-40 years. Attacks occurring before puberty or after age 40 years are unusual unless a major provocation, such as new use of phenobarbital or estrogens, had occurred.

• Blood and urine tests may reveal kidney problems or other problems. Special tests can measure porphyrins in the blood.

• The tests measure the concentration of porphyrinsand their precursors ALA and PBG which will be very high in a patient with an attack of acute porphyria.

Urine may appear purplish duringan attack or after standing in the light.

• Some of the medicines used to treat a sudden (acute) attack of porphyria may include:

• Hematin given through a vein (intravenously)

• Pain medication

• Propranolol to control the heartbeat

• Sedatives to help you feel sleepy and less anxious