Causes, symptoms and treatment of porphyria(porphyrin disease)

Causes, symptoms and treatment of porphyria Porphyria (porphyria) –
rare disease in which it rises in the blood and tissues
the content of tetrapyrrole compounds, i.e. porphyrins. AT
in most cases this is due to heredity. Title
pathology borrowed from the Greek language, where consonant with it
the word translates as “purple.” This is the color that they acquire.
integuments and waste products of patients during
seizures.

Causes and symptoms

AT организме людей, страдающих порфириновой болезнью, не
hemes are synthesized – non-protein parts of hemoglobin. But intermediate
products of its synthesis, which are called porphyrinogens,
accumulate in the skin and turn into porphyry in the world. Those in
turn interact with the oxygen of the air and form
active radicals that adversely affect the epidermis and other layers
skin. Phototoxicity is enhanced by the formation of metabolites,
damaging the basement membrane and releasing fat mediators
cells.

Because of this metabolic failure, the skin begins to fade or
acquire a brown tint and thin to such an extent that
exposure to sunlight causes it to burst as well
the mucous membrane of the gums and the inside of the lips. AT итоге на
integuments form erosion, blisters and deep cracks, and the roots
teeth are exposed. ATоспалительный процесс затрагивает носовые и
ear cartilage, so they deform. Fingers twists, scars,
scars and rotting ulcers cover even the eyelids. AT результате человек
becomes disfigured and ceases to tolerate sunlight,
initiating these processes.

Provoking factors

Porphyria – a hereditary disease, overwhelmingly
cases transmitted by the autosomal dominant type. In this way,
provoke the occurrence of the disease is impossible, but there are factors
which aggravate its course and cause an acute form. TO
These include:

  • Causes and symptoms порфирии fasting or very strict
    diet;
  • bacterial or viral inflammatory diseases
    origin;
  • alcohol abuse;
  • taking barbiturates, antibiotics, sulfonamides and some
    other medicines;
  • changes in the hormonal profile (in representatives of the weak
    sex, this may be the first menstruation or pregnancy);
  • sunlight exposure.

AT острой форме к симптомам, отражающимся на внешности,
other signs are added.

TOлиническое течение

Symptoms of porphyria in acute form associated with impaired motility
intestinal spasms of blood vessels, an increase in the content of catecholamines in
blood, nerve sheath damage, degeneration
neurons, lesion of peripheral nerves and central nervous system. Pathological
процессы сопровождаются такими проявлениями:

  • Provoking factors порфирии pain in the abdomen and back;
  • vomiting;
  • constipation;
  • tachycardia;
  • increased blood pressure;
  • progressive weakness;
  • violation of skin sensitivity;
  • increased trauma of integuments with inflammatory
    changes;
  • hyperpigmentation;
  • scleroderma-like changes;
  • TOлиническое течение порфирии limb strength reduction;
  • brain diseases;
  • paralysis;
  • violation of mental and mental activity;
  • hallucinations.

One of the main symptoms to be suspected
porphyria, is the specific staining of the patient’s urine
unusual shades from pinkish to red-brown. On
sunlight this color is enhanced.

Several classifications

AT первую очередь болезнь классифицируют по тому месту в
an organism in which an error occurs in the synthesis of hemoglobin. it
may be liver or bone marrow. Respectively,
There are two types of porphyria:

  • hepatic
  • erythropoietic.

AT тяжёлых случаях нарушение возникает сразу в обоих органах.
A more complex classification implies a selection in each
The main type of the disease is several subspecies. So hepatic
порфирия делится на:

  • acute intermittent;
  • variegated;
  • late skin;
  • caused by deficiency of aminolevulin dehydratase
    acids;
  • hereditary coproporphyria.

Erythropoietic type of the disease is also divided into
several subspecies. TO ним относят болезнь Гюнтера (врождённую
pathology) and protoporphyria.

You can classify the disease by severity of clinical
flow. itт признак предполагает выделение двух
Forms:

  • acute;
  • протекающей с преимущественным поражением skin.

TO сожалению, тяжёлые симптомы характерны для любого из этих
species. Only 0.1% of carriers show no signs of disease.
genetic defect.

Differential diagnostics

To diagnose a disease, you need to hold a special
examination. AT него входит количественный анализ порфобилиногена в
erythrocytes, blood plasma, urine and feces, determination of activity and
mutations of porphobilinogenesis in the gene.

Differential diagnostics порфирии

TOроме того, после предварительной диагностики одного из видов
porphyria being screened to exclude
diseases with similar symptoms. So, hepatic disease variant
may be polyneuritis with lead poisoning, syndrome
Guillain Barre, diphtheria, radiation sickness, leukemia,
neurofibromatosis, liver tumor, hepatitis, phototoxic
pseudoporphyria caused by toxins, drugs or products
aluminum. To test this, the patient is given an antidote, after which
symptoms of false porphyria usually disappear.

TOожный вариант можно ошибочно диагностировать при системной
lupus erythematosus, Lyell’s syndrome, chickenpox, sepsis and other
parasitic infections or photoallergic reactions to
medicines. You can eliminate the error by using the spectrum estimate.
absorption of porphyrins using fluorescent
spectroscopy.

Principles of treatment

Principles of treatment порфирии Since the disease due to
heredity enzymes involved in porphyrin biosynthesis,
inferior, doctors are trying to influence the genetic
mechanisms and eliminate the adverse factors triggering
aggravation. These measures cannot provide a persistent correction.
porphyrin metabolism, but relieves symptoms and helps
prevent irreversible pathological changes in the body.

TO сожалению, в настоящее время порфирия недостаточно изучена,
therefore, many treatments are ineffective. None
менее медики непрерывно ищут пути облегчения течения diseases.
Now the patient is prescribed treatment depending on the form.
diseases. So, in the case of hepatic porphyria, exclude
impact of the provoking factor and prescribe hepatoprotectors,
glucocorticosteroids, vitamins. TOроме того, проводят детоксикацию,
heart rate adjustment and prescribe a high-calorie rich
carbohydrate diet.

When a bone marrow disease interrupts the absorption of porphyrins in
intestines by daily three times a day 60 g
activated carbon. Then suppress the formation of red
blood cells by the body through the transfusion of excess
the amount of red blood cell mass and daily intake of 1 g
hydroxyurea. ATывести избыток железа помогают
complexing drugs.

Bed rest and stay in a dark room, completely
devoid of sunlight, are especially important when erythropoietic
porphyrias. TOроме того, потребуются противовоспалительные,
antihistamines and sedatives. Sometimes you need to delete
spleen. TOроме того, рекомендуется регулярное употребление
carrot-rich carrot juice, especially in spring and autumn.

Treatment should be carried out with regular monitoring of the analysis.
peripheral blood. If you start it at an early stage of the disease,
then the forecast will be favorable. The outcome of moderate porphyria
depends on the effectiveness of treatment and qualifications of specialists. AT
severe cases, the patient is recommended to issue a disability.

Features of some species

Особенности видов порфирии Some types of porphyria have
unique features due to which their symptoms, diagnosis and
treatments differ from conventional. For liver forms
characteristic is acute intermittent porphyria, and for
Erythropoietic – Gunther’s disease. They are reflected in
culture. ATо многих американских и российских сериалах, посвященным
hospital staff, as well as mystical and sci-fi
the pictures were played up with these diseases. However, there are
неклассифицированные формы diseases.

Acute intermittent pathology

Острая перемежающаяся порфирияThe disease is inherited by
dominant type, affects the peripheral and central nervous
the system. The nucleation mechanism is associated with the suspension of synthesis
organic matter uroporphyrinogen with simultaneous activation
enzyme aminolevulinic acid. Due to metabolic peculiarities
Acid builds up in neurons and disrupts nerve function.
fibers, leading to their demyelination. Ion transport through
the membrane is not implemented, the activity of potassium and sodium-dependent
adenosine phosphatase is inhibited.

The diagnosis is made to the patient by the presence in the urine of increased
the content of aminolevulinic acid in combination with porphobilinogen.
TOроме того, врач оценивает клиническую картину. Disease
it is suspected if a person experiences neuropathic pain, he has
polyneuritis manifests itself, the strength of all four limbs decreases,
respiratory muscles are paralyzed. Due to changes in the central
nervous system, seizures, hallucinations, delusional
states. TOроме того, в разных участках живота локализуются боли.
Болезнь порфирия обостряется в следующих
cases:

  • during pregnancy and childbirth;
  • while taking some barbiturates, hormones, psychotropic and
    antibacterial drugs;
  • in case of surgical interventions when anesthesia
    performed with thiopental sodium.

Although a feature of acute intermittent form is that
after exacerbation, the symptoms may disappear spontaneously, drugs,
can lead to a complication of the disease, should
to exclude. Porphyrin production is reduced by daily
intravenous administration of 200 g of glucose or intramuscular injections
250 mg of adenyl. Since gems are not synthesized in the body
patient, in severe cases he is additionally prescribed hematin
(complex of porphyrin with trivalent iron), and also carried out
the procedure for blood collection, its cleaning and return to
blood flow.

Symptomatic treatment is to eliminate strong
pain with narcotic painkillers
and chlorpromazine, as well as in reducing heart rate and
blood pressure by the introduction of beta-blockers. After
first improvements hold restoration activities
physical activity – massage and therapeutic exercises.

Gunther’s Disease

The name of the incurable disease was given in honor of the German
the doctor who made his description at the beginning of the 20th century. It is very rare
a form of porphyria, occurring in one person out of a million. Her
the main feature is a different type of porphyry
inheritance, namely autosomal recessive. It consists in
mutations in the region of the long arm of the tenth chromosome. Genome change
leads to deficiency of certain enzymes, which is why
metabolism of heme is disturbed, and also arises and acquires
chronic nature of high photosensitivity of the skin.

As a result, patients avoid the light that causes them to burn,
inflammation and ulcers. To minimize multiple lesions
cartilage and skin, due to which a person begins to resemble a mummy,
нужна максимальная изоляция от солнца и применение
photoprotective means:

  • reflective ultraviolet film that is glued to the windows in
    house and car;Gunther's Disease
  • photoprotective creams;
  • full body clothing, sunglasses,
    hats;
  • replacement of fluorescent light sources with lamps
    incandescent.

In addition, symptoms of Gunther’s disease are: hemolytic
anemia – the destruction of red blood cells; hypertrichosis – excessive growth
hair; splenomegaly – an increase in the size of the spleen; erythrodontia
– staining teeth in pinkish brown with bright red
luminescence in ultraviolet rays.

Usually, symptoms appear in newborns in the first year.
life, although sometimes it can happen later – at the age of 4-5 years.
The probability of death is high in childhood
recovery has not yet been identified.

There were developments in the treatment of porphyria diseases using
bone marrow transplantation, but this method did not give a long-term
effect, in addition, it causes life-threatening infectious
complications. A slight improvement was recorded when
red blood cell transfusions, but it turned out to be unstable, and
regular transfusions carry a big risk. Application
beta-carotene, cholestyramine and activated carbon did not give
result, whatever doses were tried. In this way,
a little easier life for the patient can only reliable isolation from
sunshine.

Unclassified forms

Sometimes symptoms of erythropoietic porphyria, such as scars on
skin, pigmentation disorders, hypertrichosis, dystrophy of nails and muscles,
poor physical development, accompanied by biochemical
indicators characteristic of the liver form – by increasing the level
uroporphyrin in plasma, erythrocytes and feces in normal
the amount of porphyrin.

This is due to the connection of the two processes. Broken exchange
processes in the liver lead to the formation of substances that
damage the vascular system and violate blood clotting. At that
same time systemic disorders of the blood vessels and
coagulability leads to pathologically increased formation
porphyrins and impaired liver function.

Unclassified forms порфирии

In order not to create confusion in exactly compiled classification,
This form does not make it. Moreover, with this version of porphyria
usually no symptoms, increased discharge
porphyrins in the urine is not observed, so patients erroneously
photodermatosis is diagnosed, starting in childhood.

However, with more in-depth study of photosensitivity
the patient can make a true diagnosis. In particular, for this
porphyrins are analyzed quantitatively in feces,
blood and red blood cells.

History and epidemiology

Centuries ago the terrible symptoms of porphyria disease
taken to be a manifestation of the vampire essence. Patients were tortured and
executed Only after a while the doctors found out that the people taken
for werewolves and vampires, suffer from severe hereditary
diseases. Then he was called hematoporphyria. Now this word
considered obsolete and practically out of use.

History and epidemiology порфирии Sometimes a disease is wrong
They call it porphyry, but this is also wrong, since this term
is synonymous with porphyriate and refers to the period of the Mexican
stories when General Porfirio Díaz was in power. Name
ruler and gave the name porphyry, but, despite the similar
sound, to the disease it has nothing to do.

The disease befell not only ordinary people, but also crowned
persons, for example, King of England George III, who suffered from
increased skin sensitivity to the sun caused by variegated
porphyria, initially adopted for the acute intermittent variant.
The ruler’s extinction began with seizures, during which he lost
sanity Then he went blind and completely lost his mind.

Perhaps the initial appearance of porphyria was affected
closely related marriages and incest. Now the disease is spread to
the north of Europe, where it suffers from it 0,007—0,012% population.

Treatment of porphyria is possible with virtually any form of it.
The only exception is Gunther’s disease. However over
diseases depends a lot on how you treat your
health of the patient. With strict adherence to the recommendations of the doctor,
avoidance of sunlight, regular examinations and
clinical examination, the rejection of bad habits and the maintenance of functions
liver prognosis in most cases will be favorable.

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