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 porphyrias.
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:
- Numbness in some areas of the skin.
- Polyneuritis (multiple nerve damage).
- Rash.
- Redness and swelling of the skin.
- Pigmentation and blisters on areas of the skin that are normally exposed.
- Microcyst (a decrease in the volume of the bladder, in which there is a persistent violation of itsfunctions).
- Psych.
- 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.
- Increase in pressure.
- 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 disturbances may appear on the part of the brain stem, nerves of the skull (oculomotor and facial), autonomic NS.
Symptoms of porphyria do not appear in all carriers. For example, 80% of them may not be aware of the problem at all. A feature 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 forms of porphyria are quite rare. Symptoms of the disease are expressed in different ways.
Diagnosis of pathology
In the case of a disease such as acute intermittent porphyria, the diagnosis must be thorough. Laboratory tests of urine and blood are mainly used, which should reveal the amount of porphobilinogens, the level of porphyrin in plasma. If at least one sample waspathological, then the patient may be assigned an additional examination.
For example, it is important to take an x-ray of the abdominal cavity, which will help to identify bowel obstruction. In addition, there are some diagnostic criteria that will help make the diagnosis as accurate as possible:
- During an attack: PBG and ALA are excreted very quickly in the urine.
- During remission, screening for the degree of decrease in deaminase activity may be done.
In any case, the diagnosis must be differential in order for the therapy of the disease to be truly effective. If the examination was done incorrectly, and the treatment turned out to be ineffective, then the patient will die (in 60% of cases).
It is also important that all members of the patient's family pass the tests. This will help in the future to prevent the development of porphyria in offspring.
How does the disease progress?
The pathology development mechanism is quite simple. Heme - a non-protein part of hemoglobin - under the influence of certain factors is able to turn into a highly toxic substance. This, in turn, corrodes the tissues under the skin.
As a result of this, the cover begins to turn brown, thinner. Over time, the patient's skin becomes covered with wounds and ulcers, especially if he is exposed to sunlight. The fact is that ultraviolet leads to damage to already thin tissues.
Developing, the pathological process affects not only the epidermis. The cartilaginous tissues of the nose and ears are also affected. Naturally, this deforms them. That is, sharpintermittent porphyria brings not only physical, but also moral suffering, since a person cannot look at his disfigured reflection in the mirror.
Reason for development
Acute intermittent porphyria is a complex and severe disease. The reasons for its development are as follows:
- Genetic predisposition: pathology is inherited.
- Too much lipid peroxidation.
- Liver disease. This is especially true for hepatitis.
- Severe poisoning with chemicals or s alts of heavy metals.
- Kupffer cell siderosis.
- A lot of iron in the blood.
- Prolonged 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 provoked:
- Strict diet. It is also a serious burden on the liver, which must work more than usual.
- Stressful condition.
- Taking a lot of medications.
- Frequent exposure to hazardous chemicals.
- Hormonal changes due to pregnancy or menstruation in women.
- Complex infectious pathologies such as hepatitis C.
- Drinking too much.
In order for the pathology not to disturbagain and again, you just need to eliminate all the above factors, as well as lead a he althy 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 can eliminate symptoms within 2-4 days.
If a patient has developed severe motor neuropathy, then the symptoms may not disappear for months or years. The older a person becomes, the less sensitive he is to the factors that cause the disease. His seizure frequency is decreasing.
Features of treatment
If a patient is diagnosed with acute intermittent porphyria, treatment should be carried out by a hematologist and endocrinologist. Naturally, therapy should be complex. It includes:
- Plasmapheresis (cleansing the blood of toxins with the help of special equipment).
- Protection from direct sunlight.
- Splenectomy (removal of the spleen).
- Using pain medication.
- Using drugs to lower blood pressure.
- Using glucose solution for infusion.
- The use of drugs such as adenosine monophosphate and Riboxin.
- Using products that promote the excretion of skin porphyrins in urine.
Porphyria (what it is - described above) requires an integrated approach intreatment. An approximate therapy regimen might be:
- To begin with, the patient should be admitted to the 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 method of treatment only helps if the attack of porphyria is not severe.
- It is also important to quickly start treating the patient with hemin. Improvement in this case may occur after 2-4 procedures.
- Managing symptoms is also an important part of the healing process. It is necessary to monitor the drinking regime so that the patient does not become dehydrated. To eliminate pain, you will need paracetamol, as well as narcotic analgesics (available on prescription). Beta-blockers can be used to treat irregular heartbeats as well as pressure problems. 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.
- Variegate porphyria.
What drugs should not be taken?
Acute intermittent porphyria can be caused by certain drugs. Soyou need to know which ones you can not take, 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, Diphenylhydanthone, 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.
- It is important to eat those foods that contain a significant amount of vitamins, especially group B.
- Skin should be protected from direct sunlight: glasses, closed clothing, hats or caps are a must when going out!
- It is better to avoid all those factors that can cause an aggravation.
- It is important to seek the advice of a nutritionist to help you choose the best diet.
There are some more useful recommendations of doctors that the patient must always follow. For example, with him alwaysthere should be a bracelet on which it will be written that the person has this particular disease.
That's all the features of the presented pathology. Stay he althy!
