Acute intermittent porphyria: symptoms, diagnosis, treatment

Genetic pathologies are the most difficult and difficult, since it is impossible to completely get rid of them. One of these diseases is acute intermittent porphyria. This is a hereditary disease, in which the amount of porphyrins in the blood increases. This type of pathology is considered one of the most common among all types of genetic porphyria.

During the disease, there is accumulation of toxic substances in human organs. Most often, pathology is diagnosed in women. And it is provoked it can be pregnancy and childbirth.

Symptomatology of the disease

If the patient develops acute intermittent porphyria, the symptoms are as follows:

• Numbness of some skin areas.
• Polyneuritis (multiple injuries of nerve endings).
• Rash.
• Redness and swelling of the skin.
• Pigmentation and blisters on those skin areas that are usually open.
• Microcyst (decrease in the volume of the bladder, in which there is a persistent violation of its functions).
• Psychosis.
• Organic pathological changes in the liver that affect its functionality.
• Anemia.
• Coma.
• Pain in the abdomen, and very strong. They are accompanied by additional nausea and vomiting.
• Destruction of nail plates.
• Increase in pressure.
• Violation of urination.
• Confusion, fear, hallucinations.
• Paralysis of the respiratory muscles.

It should be noted that the first signs are observed in a patient aged 20 to 40 years in the form of seizures. And they can be repeated often or happen only once in a lifetime. If the attack of the pathology develops, then there may be violations from the trunk of the brain, the nerves of the skull (oculomotor and facial), the autonomic NA.

Symptoms of porphyria are not apparent to all carriers. For example, 80% of them may not even know about the problem. The peculiarity of the attacks of the disease is that, in all its forms, the patient's urine changes color and becomes pink, brown or even red.

Acute porphyria forms are rare. The symptomatology of the disease is expressed in different ways.

Diagnosis of pathology

In the case of a disease such as acute intermittent porphyria, the diagnosis should be thorough. Basically, laboratory tests of urine and blood are used, which should reveal the amount of porphobilinogens, the level of porphyrin in the plasma. If at least one sample is pathological, the patient may be assigned an additional examination.

For example, it is important to make a radiograph of the abdominal cavity, which will help to identify intestinal obstruction. In addition, there are some diagnostic criteria that will help to make the diagnosis as accurate as possible:

1. During the seizure: PBG and ALA are very quickly excreted in the urine.
2. During the remission, screening for the degree of decrease in deaminase activity can be made.

In any case, the diagnosis should be differential, so that the disease therapy is really effective. If the examination was done incorrectly, and the treatment was ineffective, then the patient is expected to die (in 60% of cases).

It is also important that all family members of the patient give tests. This will help in future to prevent the development of porphyria in offspring.

How does the disease develop?

The mechanism of pathology development is quite simple. Hem - non-protein part of hemoglobin - under the influence of certain factors it is able to turn into a highly toxic substance. It, in turn, corrodes the tissues under the skin.

As a result, the cover begins to turn brown, thinning out. Over time, the skin of a patient becomes covered with wounds and sores, especially if it is exposed to sunlight. The fact is that ultraviolet radiation also causes damage to thin tissues.

Developing, the pathological process affects not only the epidermis. Also affected are the cartilaginous tissues of the nose and ears. Naturally, this deforms them. That is, acute intermittent porphyria brings not only physical, but also moral suffering, since a person can not look at his disfigured reflection in the mirror.

Causes of development

Acute intermittent porphyria is a complicated and difficult disease. The reasons for its development are as follows:

1. Genetic predisposition: pathology is inherited.
2. Too much speed of lipid peroxidation.
3. Diseases of the liver. In particular, this applies to hepatitis.
4. Severe poisoning with chemicals or heavy metal salts.
5. Siderosis of Kupffer cells.
6. A lot of iron in the blood.
7. Long-term use of heavy medicines: barbiturates, hormones.
8. Chronic alcoholism.

What factors can increase the risk of pathology?

Porphyria (what is it - you already know) can be provoked:

• A strict diet. It, too, is a serious strain on the liver, which must work more than usual.
• Stressful state.
• Accepting a large number of medicines.
• Frequent contact with hazardous chemicals.
• Changes in the hormonal background due to pregnancy or menstruation in women.
• Complex infectious pathologies such as hepatitis C.
• Excessive use of alcohol.

In order that the pathology does not disturb again and again, you just need to exclude all of the above factors, as well as lead a healthy lifestyle.

Forecast

If the patient is diagnosed with acute intermittent porphyria, the prognosis largely depends on the degree of nerve endings. In time, the therapy started can eliminate symptoms within 2-4 days.

If the patient developed severe motor neuropathy, then the symptoms may not disappear for months and years. The older a person becomes, the less sensitive it is to the factors causing the disease. His frequency of attacks decreases.

Features of treatment

If the patient is diagnosed with acute intermittent porphyria, the treatment should be performed by a hematologist and an endocrinologist. Naturally, therapy should be comprehensive. It includes:

• Plasmapheresis (purification of blood from toxins with the help of special equipment).
• Protect from direct sunlight.
• Splenectomy (removal of the spleen).
• The use of pain medication.
• Use of drugs to lower blood pressure.
• Use of glucose solution for infusion.
• и "Рибоксин". The use of such drugs as a and denosin monophosphate and Riboxin.
• Use of drugs that promote the removal of porphyrins of the skin along with urine.

Porphyria (what it is - described above) requires an integrated approach to treatment. The approximate scheme of therapy can be such:

1. For the beginning the patient should be hospitalized in a hospital. Here you need to constantly monitor the heart rate, blood pressure, and other vital signs.
2. It is important to exclude absolutely all factors that provoke an exacerbation of the disease.
3. If the exact cause of the pathological condition has not yet been determined, the patient can be given an infusion of glucose. However, this method of treatment helps only if the attack of porphyria is not strong.
4. It is also important to quickly begin therapy with a hemin. Improvement in this case may occur after 2-4 procedures.
5. Elimination of symptoms is also an important part of the treatment process. It is necessary to monitor the drinking regime so that the patient does not experience dehydration. To eliminate pain, you will need paracetamol, as well as narcotic analgesics (dispensed by prescription). Beta-blockers can be used to treat cardiac arrhythmias and pressure problems. Infection should be treated with penicillin or cephalosporins.

General classification

Acute intermittent porphyria can be of the following types:

1. Pathology caused by deficiency of dehydratase.
2. Hereditary coproporphyria.
3. Variegate porphyria.

What medicines can not be consumed?

Acute intermittent porphyria can occur due to exposure to certain drugs. Therefore it is necessary to know which of them can not be taken not to provoke an attack.

So, if a person has acute intermittent porphyria, the list of prohibited medicines must be memorized:

• Very dangerous drugs: Dapsone, Danazol, Diphenylhydantone, Diclofenac, Carbamazepine, Meprobamate, Novobiocin, and Chlorokhin.
• Potentially dangerous: Clonazepam, Ketamine, Clonidine, Nortriptyline, Rifampicin, Theophylline, Erythromycin, and Spironolactone.

Prevention of disease

Unfortunately, today doctors can not offer any complex of preventive measures that could prevent the disease. However, some tips can be performed for general support of the body:

1. It is best to give up smoking and drinking.
2. It is important to eat those foods that contain a significant amount of vitamins, especially the B group.
3. It should protect the skin from direct exposure to sunlight: glasses, closed clothing, hats or caps when going out to the streets are required!
4. It is better to avoid all those factors that can cause exacerbation.
5. It is important to seek the advice of a nutritionist, so that he helps to choose the optimal diet.

There are some more useful recommendations of doctors that the patient must always observe. For example, with him there should always be a bracelet on which it will be written that the person has this disease.

That's all the features of the presented pathology. Be healthy!