Mastocytosis: New Therapy Options



Itching, pain, strong Entzüinventions: a Long time, severe forms of systemic disease were not sufficiently treatable. Now researchers are reporting a breakthrough

Diagnosis: Dr. Frank Siebenhaar power in the case of Frank J. a skin test

Before Frank J. was treated a year ago as one of the first mastocytosis patients with the drug Midostaurin, it was not good for him. The 56-jäover the years Berlin has suffered from massive Hautausschläwith almost unerträgrade itching. To severe pain as well as stomach and Verdauungs­complaints, his spleen and liver were pathologically vergrößert. With a leg, Frank was already in the grave, as he erzählt.

Risk of enormous Entzü- making reactions

Frank is suffering from the disease since 2007, a particularly aggressive Form of systemic mastocytosis. This der&nbsp is; Köthe body of so-called mast cells überflutet. These are maßprogress on defense mechanisms of the immune system involved, by messengers, for example, substances such as Histamine, Leuko­triene or Tryptase ausschütten.

In some patients, it can point to the enormous Entzündungsreak­tions come – zunäfirst of all, on the skin and schließin all Körper­regions. The result of the symptoms, the experienced Frank, in the end lebensgefäannual Organschäthe.

People without a diagnosis are falling through the cracks

In Germany sch&auml have;establishment of 5000 people with mastocytosis. However, the allergist, Dr. Frank Siebenhaar, private lecturer at the Berlin Charité, weiß, that there is a dark figure: "By means of new diagnostic methods, we were able to determine that approximately ten percent of patients with severe and sometimes tödifferent allergic reactions have mastocytosis."

These stakeholders fall through the cracks. In addition, köcan lighter forms of mastocytosis under Umstäwith other chronic skin disorders be confused.

The cause of a Mutation is usually

The cause für the stäfull reconstitution of mast cells in 90 percent of the Fälle in an acquired genetic Mutation that is not inheritable. It causes an error structure of the tyrosine kinase receptor (KIT) on the mast cell.

This is generally activated only by stem cell factors, which in normal amounts, in all Köthe body regions are to be found. "However, the Mutation has the consequence that the Receptor is permanently active and the cell stäfully the binding of stem cell factor vortäuscht", weiß Expert Seven Hair. The führe, in turn, that the Köbody more mast cells in the picture.

Active ingredient Midostaurin blocks the Receptor

Here, the active ingredient Midostaurin, to the group of tyrosine kinase ­­Inhibitors zählt and especially for the treatment leukämixers diseases already läViking is known. He blocks the Receptor and unterdrüthe fatal fire ckt. The number of mast cells is regulated, also the Activation of the mast cells will be reduced.

"Heal köwe can’t with the drug, but at least the patients stabilise that genügend time für a bone marrow transplant bleibt", resümiert seven hair, the Allergy center of the Charité Berlin studies on the therapy of the disease.

Für the case of the heavy Fälle

Since August of 2017, the drug is also für severe forms of mastocytosis approved. It is considered good verträpossible. Because it but not ausschließto the mast cells, occur mit­under the side effects. So it can infektanf&auml, for example,;digit, or liver and kidney burden. In patients with milder forms there is, the advantages and disadvantages of abzuwägen.

In the meantime, researchers are working on other drugs, both für light, as well as für severe forms of the disease. "Currently, studies are underway on several tyrosine kinase inhibitors, the specific act sollen", seven hair reported. A different concept Antik&ouml be;the body, for example, to the Siglet-8 Receptor on the Oberfläsurface of the mast cells bind. The exact mechanism of the Siglet-receptors is still unclear, but the activation of the receptor the cell, an inhibiting Signal. It is then almost vollstäfully blocked. In contrast to the tyrosine kinase inhibitors könne of this Antiköbody also, the number of mast cells reduce. Whether this assumption is bestäneeded, to show the current studies.

A new life

"Füfifty years, we have tried the Entzü- making mediators such as histamine or leukotrienes auszuschalten", seven hair says. Only in the last four years, the leaf ge&shy had;wen­det. Für Frank J. just recht­time. Almost instantly after the first dose of the Agent häwould his symptoms be reduced, erzähe hlt. In the meantime, he also has a healthy Köof the body weight. "To me, a new life was given."

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Itching: What’s behind it, what helps

Itching löst the urge to Scratch the skin from Rubbing. The itching may be benign or indicate that the skin or in the Köbody something is wrong