Genetic pathologies are the most complex and difficult, since it is impossible to completely get rid of them. One such disease 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, toxic substances accumulate in human organs. Most often, pathology is diagnosed in the fairer sex. Moreover, it can be provoked by pregnancy and childbirth.
Symptoms of the disease
If a patient develops acute intermittent porphyria, the symptoms are as follows:
- Numbness in some areas of the skin.
- Polyneuritis (multiple damage to nerve endings).
- Rash.
- Redness and swelling of the skin.
- Pigmentation and blisters on those areas of the skin that are usually open.
- Microcyst (a 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 the nail plates.
- Pressure increase.
- Impaired 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. Moreover, they can be repeated often or happen only once in a lifetime. If an attack of pathology develops, then disorders may appear from the side of the brain stem, cranial nerves (oculomotor and facial), and autonomic NS.
Symptoms of porphyria are far from all carriers. For example, 80% of them may not even suspect a problem. A feature of the attacks of the disease is that, with all its forms, the patient's urine changes color and becomes pink, brown or even red.
Acute porphyria are rare. Symptoms of the disease are expressed in different ways.
Pathology diagnostics
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 porphobilinogen, the level of porphyrin in plasma. If at least one test turned out to be pathological, then the patient may be assigned an additional examination.
For example, it is important to do an abdominal x-ray, which helps to identify bowel obstruction. In addition, there are some diagnostic criteria that will help to make the diagnosis as accurately as possible:
- During the attack: with urine, PBG and ALA are very rapidly eliminated.
- During remission, screening for the degree of deaminase activity decrease can be done.
In any case, the diagnosis must be differential so that the treatment of the disease is truly effective. If the examination was done incorrectly, and the treatment was ineffective, then the patient expects a fatal outcome (in 60% of cases).
It is also important that all family members of the patient pass the tests. This will help to further prevent the development of porphyria in descendants.
How does the disease develop?
The mechanism for the development of pathology is quite simple. Hem - the non-protein part of hemoglobin - under the influence of certain factors, can turn into a highly toxic substance. It, in turn, corrodes the tissue under the skin.
As a result, the cover begins to turn brown, thin out. Over time, the patient's skin becomes covered with wounds and ulcers, especially if it is exposed to sunlight. The fact is that ultraviolet light leads to damage to thin tissues.
Developing, the pathological process affects not only the epidermis. Cartilaginous tissues of the nose and ears are also affected. Naturally, this distorts them. That is, acute intermittent porphyria brings not only physical, but also moral suffering, since a person cannot look at his disfigured reflection in the mirror.
Development reasons
Acute intermittent porphyria is a complex and severe illness. The reasons for its development are as follows:
- Genetic predisposition: pathology is inherited.
- The lipid peroxidation rate is too high .
- Liver disease. This is especially true for hepatitis.
- Severe poisoning by chemicals or salts of heavy metals.
- Siderosis of Kupffer cells.
- A lot of iron in the blood.
- Long-term use of heavy medications: barbiturates, hormones.
- Chronic alcoholism
What factors can increase the risk of developing pathology?
Porphyria (what it is - you already know) can be triggered:
- A strict diet. It is also a serious burden on the liver, which must work more than usual.
- Stressful condition.
- Acceptance of a large number of medications.
- Frequent contact with hazardous chemicals.
- A change in the hormonal background due to the onset of pregnancy or menstruation in women.
- Complex infectious pathologies such as hepatitis C.
- Excessive drinking.
In order for the pathology not to bother again and again, you just need to exclude all of the above factors, as well as lead a healthy lifestyle.
Forecast
If a patient is diagnosed with acute intermittent porphyria, the prognosis largely depends on the degree of damage to the nerve endings. Timely therapy started eliminates the symptoms within 2-4 days.
If the patient has developed severe motor neuropathy, then the symptoms may not disappear for months and years. The older a person becomes, the less sensitive he is to the factors causing the disease. His frequency of attacks decreases.
Treatment features
If a patient is diagnosed with acute intermittent porphyria, treatment should be performed by a hematologist and an endocrinologist. Naturally, therapy should be comprehensive. It includes:
- Plasmapheresis (blood purification from toxins using special equipment).
- Protection from direct sunlight.
- Splenectomy (removal of the spleen).
- The use of pain medication.
- The use of drugs to lower blood pressure.
- The use of glucose solution for infusion.
- The use of drugs such as a denosine monophosphate and Riboxin.
- The use of funds that contribute to the removal of porphyrins of the skin with urine.
Porphyria (what it is - described above) requires an integrated approach to treatment. An exemplary treatment regimen may be as follows:
- To begin with, the patient should be hospitalized in a hospital. Here you need to constantly monitor the heart rate, blood pressure, as well as other vital signs.
- It is important to exclude absolutely all factors that provoke an exacerbation of the disease.
- If the exact cause of the pathological condition has not yet been determined, then the patient can be given an infusion of glucose. However, this treatment method only helps if the attack of porphyria is not strong.
- It is also important to quickly begin treatment of the patient with hemin. Improvement in this case may occur after 2-4 procedures.
- Symptom management is also an important part of the treatment process. It is necessary to monitor the drinking regimen so that the patient does not have dehydration. To eliminate the pain, you will need paracetamol, as well as narcotic analgesics (prescription). Beta-blockers can be used to treat heart problems, as well as pressure problems. The infection should be fought with penicillin or cephalosporins.
General classification
Acute intermittent porphyria is of the following types:
- Pathology caused by dehydratase deficiency.
- Hereditary coproporphyria.
- Variegative porphyria.
What medications should not be taken?
Acute intermittent porphyria may occur due to exposure to certain drugs. Therefore, you must know which of them can not be taken so as not to provoke an attack.
So, if a person has acute intermittent porphyria, the list of prohibited drugs must be known by heart:
- Very dangerous drugs: Dapsone, Danazol, Diphenylhydantone, Diclofenac, Carbamazepine, Meprobamate, Novobiocin, Chloroquine.
- Potentially dangerous: Clonazepam, Ketamine, Clonidine, Nortriptyline, Rifampicin, Theophylline, Erythromycin, Spironolactone.
Disease prevention
Unfortunately, today doctors cannot offer any set of preventive measures that could prevent the disease. However, some tips can be followed for general body support:
- It is best to stop smoking and drinking alcohol.
- It is important to eat those foods that contain a significant amount of vitamins, especially group B.
- Protect your skin from direct sunlight: glasses, covered clothing, hats or caps are required when going out!
- It is better to avoid all those factors that can cause exacerbation.
- It is important to seek the advice of a nutritionist to help him choose the optimal diet.
There are some other useful recommendations of doctors that the patient should always follow. For example, with him there should always be a bracelet on which it will be written that a person has this particular disease.
That's all the features of the presented pathology. Be healthy!