Acute intermittent porphyria

Acute intermittent porphyria may be associated with a number of physical symptoms and manifestations involving several organ systems of the body. The duration and severity of attacks (episodes) vary from person to person. In some cases, especially those without adequate diagnosis and treatment, the disease can cause life-threatening complications. It is extremely important to observe the changing nature of this disease and the fact that it is possible that the affected person does not necessarily manifest all the symptoms. Symptoms of acute porphyria usually occur in the form of episodes or \. People affected usually recur from an attack in a few days.

However, if an acute attack is not diagnosed and treated immediately, then recovery may take longer, up to a few weeks or even months. Most of the patients do not have symptoms between episodes. The onset of attacks occurs between 20 and 30 years, but can occur at or after puberty. Pre-puberty onset is extremely rare. Episodes are more common in women than in men, probably due to menstrual cycle hormones.

Approximately 3% -5% of the patients, usually women, experience recurrent attacks (more than 4 per year) for a period of several years. • which may be severe - the most common symptom associated with acute intermittent porphyria and often the first sign of an attack • gastrointestinal symptoms: nausea, vomiting, constipation or diarrhea, abdominal distension • neurological symptoms: peripheral nerve damage (peripheral neuropathy) • psychological symptoms . People suffering from this disease have a mutation in the HMBS gene. Most people who have a mutation of this gene do not develop the symptoms of the disease. There are other factors necessary to cause this condition.

Triggering factors may vary from one person to another. It is believed that most of them stimulate an amplified production of hem in the liver, and among these factors, excessive consumption of alcohol, certain medications, various diets, infections or certain hormonal factors. The mutation of the HMBS gene that predisposes people to the development of acute porphyria is inherited as a dominant autosomal trait. The risk of transmission of the abnormal gene from the affected parent to the child is 50% for each pregnancy, no matter what sex the child will have. Only the accumulation of porphyrin precursors is not enough to develop the symptoms of this disease.

Some trigger factors are needed for the symptoms to occur. The exact reasons underlying symptom manifestation in certain people with acute porphyria are not fully understood. The exact incidence and prevalence of acute symptomatic porphyria are unknown at this time. In Europe, the prevalence is estimated at about 5. 9 per 1 million in the general population.

The highest prevalence is in Sweden due to its founding effect. Women are affected by acute symptomatic intermittent intermittent infections more often than men. Disease is more common among young or middle-aged women. Establishing a diagnosis can be difficult because most symptoms are unspecific and the attacks are episodic. Diagnosis is usually based on the identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and some specialized tests.

This condition should be suspected in people with unexplained symptoms, especially when they are accompanied by muscle weakness, psychological symptoms, neurological manifestations or unexplained hyponatraemia (diminished blood sodium levels). Screening tests to measure porphyrin precursor, namely porphyrinogen (PBG) in urine, are essential to confirm the diagnosis of acute intermittent porphyria. Acute attacks are always accompanied by an increased excretion of PBG in this type of porphyria. The objective of the treatment is to manage the symptoms, prevent complications and suppress hem synthesis in the liver through hematin, which reduces the production of porphyrin precursors. Initial treatment steps include giving up medication that could aggravate the disease or cause an attack.

Treatment may include certain medicines to treat specific symptoms: analgesics, anxiety medications, antihypertensives, medicines to treat nausea and vomiting, tachycardia or agitation. .