Haem synthesis disorder
A number of Metabolic diseases in which the structure (synthesis) of part of the transporter for oxygen in the blood (heme in hemoglobin) is disturbed.
There are thousands of metabolic steps in the body Enzymes made that enable biochemical reactions (catalyze).
If, either through hereditary factors or acquired, the functionality of an enzyme is so limited or excessive that it results in symptoms (symptoms), the expert speaks of one Metabolic disease.
In the Formation of heme eight development steps are necessary.
If one of them cannot be carried out in sufficient form due to a lack of enzymes or a defect, porphyria is present.
The symptoms then arise from the fact that the substance that should actually be converted in the problematic reaction step is accumulates and deposits. Likewise, a lack of the resulting substances can lead to inconvenience.
The porphyries include Erythropoietic protoporphyria, the Congenital (innate) erythropoietic porphyria, the Porphyria cutanea tarda, the acute intermittent porphyria as well as the Doss porphyria.
Often are porphyries inherited, with the majority following a dominant inheritance, which means that at least one parental health also falls ill have to be. On the other hand, for example congenital erythropoietic porphyria inherited as an autosomal recessive trait. Here the parents are usually healthy, but often related by blood.
Also a genetic one, but non-inherited changes in the genome (Mutations), can be the cause of porphyria. So have 4 out of 5 at the Porphyria cutanea tarda Diseased people do not inherit them, but develop them as a result of genetic changes.
Porphyries are also possible without genetic defects. In these cases one speaks of acquired (secondary) Porphyry. They are mostly based on Poisoning, about with Heavy metals like lead and mercury Liver damage from alcohol, drugs or environmental toxins such as Pesticides or hexachlorobenzene.
Likewise can Other diseases cause secondary pophyria. To be mentioned are above all Liver disease (E.g. Hepatitis C.), other metabolic diseases (e.g. Hemochromatosis), as well as blood-destructive (hemolytic) Forms of Anemia (Anemia).
The various porphyrias are mainly determined by the type and location of the symptoms Liver-associated (hepatic), Red blood cell formation-related (erythropoietic), Skin-associated (cutaneous), not skin-associated (not cutaneous) as well as acute and non-acute porphyrias.
Many porphyries are characterized by long inconspicuous phases and become partial only discovered in later decades of life. Mild forms often remain hidden (subclinical course).
Typical is a Occurrence in spurtsbut they can be long apart. As trigger apply here various loads how stress, other diseases or medication.
Depending on the form of the porphyria, this can be Symptoms vary widely fail, but a wide range of:
- Digestive tract-associated complaints (gastrointestinal complaints) like nausea, Vomit, stomach pain and abdominal cramps and colic,
- neurological and psychiatric Symptoms,
- Skin manifestations and
- Circulatory problems with an increased heart rate (tachycardia) and high blood pressure (hypertension).
The symptoms of the partially associated with porphyria subspecies Light intolerance (Phototoxicity), especially with the erythropoietic protoporporphyria), paleness due to the Anemia, reddish-colored teeth, increased body hair and an aversion to garlic and related plants are sometimes considered to be Werewolf or vampire symptoms and may well have contributed to the creation of corresponding legends.
The Diagnosis a porphyria is often a lengthy process. However, this is not because there is a lack of the required tests (in urine, the enriched precursors of heme can be easily detected from a larbor point of view), but rather because the Symptoms very variable are. As a result, other causes often come into consideration for the complaints.
To make matters worse, that increased values of heme precursors in urine often only during a "push" are to be discovered. In some forms of pophyria, it is typical that standing urine turns reddish over time due to contact with air.
Is the disease a genetic cause basis, so can a Genetic analysis be informative of the person concerned. This is often essential to clarify whether the defect is hereditary and whether family members could also be affected.
There is currently no causal therapy for any type of porphyria.
Within a push the symptoms can be alleviated by the administration of hemin. This leads the body to believe that there is a sufficient amount of heme, which means that fewer of the undesirable (and those responsible for the symptoms) preliminary stages of heme are formed.
The Main focus When treating people with porphyria, it is important to have one Avoid situations and lifestyles that trigger flare-ups.
There is no effective method for preventing porphyria from forming.
However, sick people can get through Compliance with certain rules significantly reduce the risk of a flare-up.
Above all, a lifestyle should be achieved that is gentle on the body as a whole and the liver (especially in the case of hepatic porphyrias) or the skin (especially in the case of cutaneous porphyrias). Especially should refrains from smoking and alcohol drugs are supposed to be only after careful consideration be taken by the attending physician.
When it comes to protecting the skin, the fact that the damaging effect of sunlight (but also from other light sources) is in the visible range, and therefore sunscreen does not offer any protection.
The level of suffering of an affected person depends primarily on the form and severity of the porphyria.
Also the consistent adherence to prophylactic measures plays an essential role. The life expectancy of someone with porphyria can be reduced.