Acute intermittent Porphyria

DEFINITIONS

Acute intermittent Porfiria an acute porfiria most frequently found, which causes neurological symptoms (neurological symptoms).

CAUSE

Acute intermittent Porfiria is porfiria hepatic enzyme deficiency caused by porfobilinogen deaminase, which is also known as hidroksimetilbilane synthase enzyme.
This enzyme deficiency inherited from one parent, but most of those who inherit this disorder never show symptoms.
Acute intermittent Porfiria occur in all races, but more often in people of Northern European.

Other factors (drugs, hormones or diet) can activate and cause disease symptoms.
Various drugs (including barbiturates, anti-seizure medications and antibiotics sulfonamides) may cause an attack.

Hormones (progesterone and other steroids), low-calorie diet, low-carbohydrate and excessive alcohol consumption can accelerate the onset of symptoms.
The tension that results from infection, other illness, surgery or psychological pressure also sometimes affect the occurrence of this disease.

Usually triggers the attack is a combination of several factors.
Sometimes the factors that cause an attack can not be known.

SYMPTOMS

The symptoms that occur in acute attacks lasted for several days or more.
Attacks occur after puberty and more common in women.
In some women, the attack occurred at mid-menstrual cycle.

Abdominal pain is the most common symptoms occur.
The symptoms of the digestive tract that arise can be nausea, vomiting, constipation (constipation) or diarrhea and flatulence.

The bladder may be affected, so people have difficulty in micturition.
Can also increase heart rate, high blood pressure, sweating and anxiety.

These symptoms are the result of the effects on the nervous system.
The nerves that regulate the muscle can be damaged, causing weakness that usually begins in the shoulders and arms.
The weakness is happening can quickly spread throughout the muscles, including respiratory muscles.

Trembling and convulsions can also occur.
High blood pressure can go on after the attack missing.

Healing can happen in a few days, although complete healing of severe muscle weakness may take up to several months or years.

Diagnosis

Diagnosis based on examination results of the two levels of heme precursors (delta-aminolevulinat acid and porfobilinogen) in the urine.
During the attack, very high levels and remain high in patients who experience repeated attacks.

This precursor can form a reddish porphyrin and other materials that brownish color.
Therefore, the urine may change color, especially after standing under the light.
Urine discoloration is also an important diagnostic Guiding.

TREATMENT

Severe attacks treated with intravenously heme.
In America, heme is available in the form of hematin. Other preparations are arginat heme, which has less side effects but still in the research phase.

Heme be taken in the liver, instead of making the reduced heme.
Acid levels and aminolevulinat delta-porfobilinogen in blood and urine will be reduced and the symptoms will improve, usually within a few days.
If treatment is delayed, the healing will take longer and can occur permanent nerve damage.

Giving gukosa intravenously and high-carbohydrate diet can also help, but less effective when compared with the provision of heme.

Pain can be overcome by providing medicine to patients respond to heme or glucose delivery.

PREVENTION

Porfiria intermittent acute attacks can be prevented by maintaining a good dietary intake and avoid medicines that can trigger attacks.
Reducing food to lose weight fast should be avoided.

Heme can be used to prevent attacks, but until now there has been no standard dosage.

Premenstrual attacks in women can be prevented by providing one analog GnRH (Gonadotropin Releasing Hormone) which is used for the treatment of endometriosis, but treatment is still in the research phase.