Porphyria is a group of at least eight disorders that affect the human nervous system and skin. These disorders are usually genetic, but some people with porphyria may not have symptoms if they do not meet certain triggers and others may never experience symptoms. It is estimated that approximately 1 out of 25,000 people in the US have this situation and can be up to 1 out of 50 people worldwide. In general, it can be diagnosed with blood, urine and stool tests and sometimes with ultrasound of the abdomen.
Multiple types
There are two main categories of porphyria: acute and skin. Acute types can affect both the nervous system and the skin, while skin types usually affect only the skin. Two specific types, Variegate Porphyria and hereditary coproporphyria, are considered acute and skin because they can affect both the nervous system and the skin.
acute
skin
both acute and skin
acuteintermittent porphyria (AIP)
porphyria cutanea tarda (PCT)
VARIEGATE PORPHYRIA
ALAD-DEFICIENCE PORPHYRIA (ADP)
erythropoietic protoporphyria (EPP)
hereditary Coproporphyria
erythropoietic protoporphyria (EPP) or protoporphyria
hepatoerythropoietic porphyria (HEP)
Causes
This condition may be due to the inheritance of defective genes from one parent, called the autosomal dominant pattern of porphyria, or inherit of defective genes from both parents, called the autosomal recessive pattern of the Porphyria.
physiologically, this condition occurs when too many groups of chemicals called porphyrina are being built, above in gray and blue color in the body. People naturally have some porphyrina in their bodies, but the usualThe cage is converted into a heme, a chemical compound that is located throughout the body. HEME is important because it is a large part of hemoglobin, which is a protein that allows blood to carry oxygen and carbon dioxide in the body. In persons with porphyria, the body does not create enough at least one of the eight enzymes that convert porphyrin into heme, leading to the accumulation of porphyrins.
have accumulation or porphyrins can cause different symptoms depending on where the accumulation occurs. Therefore, there are several types of disease. For example, in PCT, porphyrina accumulates mainly in the liver, while in HEP porphyrins are built mostly in red blood cells, blood plasma and bone marrow.
One type of porphyrie, PCT, is usually obtained, rather than inherited, although the conditions that predetermine the person to PCT that run in families. PCT is the accumulation of Porphyrin's liver, which may be caused by a combination of several different things, including too much iron or estrogen in the body, some viruses and inherited deficiency of a particular ENZymu called uroporfygen decarboxylase (urod).
Attack triggers
Even if one has this condition, symptoms may not experience if there is no trigger; a substance or circumstance that triggers an attack. Common triggers include:
hormonal fluctuations, especially estrogen -related ones. Many women with this condition experience attacks before or during menstruation or during pregnancy.
high iron level.
virus or infection such as hepatitis.
using drugs or alcohol and possible smoking.
Some of the drugs on the counter, including some contraceptive controls, sedatives, barbiot, some antibiotics, vitamins, anesthetics and tranquilizers.
However, the attack does not always have a known trigger, which can make it difficult when the attack comes or how to prevent them.
Symptoms
Most people with any type of porphyria do not develop symptoms. In this case, it is called latent porphyria. If symptoms occur, they may include:
Extreme Photoderyor sensitivity to light. Those with this disease are often extremely allergic to sunlight and can develop serious burns and itching of blisters just out of walking. These burns and blisters are also known as photodermatitis and often scar.
urine that turns red or purple in sunlight.
Edem or retention of water, which leads to swelling.
those with acute porphyries can experience all the above symptoms and also:
seizures.
paranoia, confusion and anxiety.
hallucination.
high blood pressure.
insomnia.
vomiting, diarrhea and constipation.
severe pain in muscles, stomach, limbs and back, which sometimes leads to weakness.
Excessive sweating and accompanying dehydration.
Some types of this condition, especially acute intermittent porphyria, have symptoms that can come and leave at once, sometimes without any known trigger. It can be very difficult to diagnose because the tests used for diagnoses work by detecting PORF levelsYrina, which are particularly increased just before the attack and during the attack. If human levels are relatively normal between attacks, it is difficult to diagnose. The diagnosis of porphyria usually takes several laps of the tests due to the way in which the tendency to come and leave, and because many symptoms are also symptoms of other conditions.
Sometimes other conditions can cause similar symptoms, including something called pseudoporphyria. People with pseudoporphyry are often sensitive to light and can get blisters when their skin is also exposed to light. Doctors can distinguish between pseudoporphyria and real things with a blood or urine test.
Treatment
Treatments usually focus on preventing attacks and lowering the body's body levels. Preventive treatment includes:
Identification and avoidance of triggers.
minimizing stress.
Wearing sunscreen and covering when you go out.
Immediately care for illness and infection.
Getting good nutrition and after a diet with a high obsAhem carbohydrates. High carbohydrate levels can reduce porphyrin production.
Other treatments focus on lowering porphyrin levels in the body. This can be done either by removing porphyrins directly or by experimenting to make the body produce less porphyrin. These types of treatments include:
chlorochin and other antimalalorial drugs. Although these drugs are usually used to prevent or treat malaria, they can absorb porphyrin and help the body get rid of it faster.
beta carotene accessories. If these supplements are used for a long time, they can help increase skin tolerance to the light.
phlebotomy or drawlitg blood. This removes iron from the body, which temporarily leads to less porphyrin production.
intravenous (IV) fluid, especially sugars and other carbohydrates. This helps to reduce porphyrin production.
IV we have alternates like Panhematin®.
Most people with this condition also receive painkillers during attacks and psychiatric treatment. Until the fifties of the yearsCH were treated with this condition with electroshock therapy, but it is no longer recommended treatment.
History and Cultural References
People speculate that several well -known historical characters had porphyria, including the "mad" of King George III, who ruled the United Kingdom during the US Revolution. Although this theory has been popularized and even included in the film Madness of King George , no convincing evidence was found. At the end of the 19th. Other psychiatrists speculate that the painter Vincent van Gogh and his brother could also have this condition.
Porphyria was also offered as an explanation for the development of vampire legends and werewolves because it causes photosensitivity that vampires have, and sometimes causes mental disorders that lead to irrational behavior.
