Huntington’s disease rare diseases

Huntington's disease rare diseases

Huntington's disease (HD) is a neurodegenerative hereditary disease.

It affects the brain and is progressive over many years/decades. The illness proceeds differently with everyone and is still incurable. Symptoms are involuntary movements, thinking problems and changes in character. It was named after Dr. George Huntington, who first described it as hereditary in 1872.

Everyone has the so-called Huntington's gene, affected people have a mutated form, which is measured by the CAG value. Those with the defective gene have a 50 percent chance of passing it on to each child.

Even in cases without a family history of Huntington's disease, so-called new mutations can occur as soon as the threshold of 40 CAG is exceeded. Mostly then ancestors have a value above the normal value (26), but below the disease range.

Those who have the mutated gene will develop symptoms. Plant carrier can be determined predictively in the context of genetic counseling, but says nothing about disease onset and progression.

People can get HK at any age. In more than ten percent of cases, symptoms appear before the age of 18. In more than ten percent of cases, symptoms appear before the age of 18, which is known as the juvenile form of HK. Due to its rarity, a regional physician/neurologist sees only a few HK patients and usually does not recognize them. Especially if there is silence about it within the family or if ancestors died early or were misdiagnosed.

Researchers around the world are working to understand the workings of the brain in order to treat the disease causally and delay or prevent its onset. Currently, only the symptoms can be treated. Special centers with outpatient consultations or inpatient admission for medication are available for this purpose.

HK is rare. It is amed that approximately one in 10.000 people suffer from Huntington's disease, which means that in Germany there are around 8.000 people affected, about four to five times as many are at risk of also developing it. Affected persons, relatives and people at risk need different support services.

Support for Huntington's families

The German Huntington's Disease Association. V. (DHH) is the self-help organization for HK. It represents the interests of the Huntington's community to authorities, politicians and associations.

In addition to the national association with its office and advice center, there are regional associations, regional self-help groups that meet to exchange experiences and give specialist lectures, and contact persons who are available to answer questions from family members and interested professionals.

DHH has two foundations: The Huntington Foundation supports research into the disease, and the George Huntington Foundation supports affected families and provides education and a better quality of life from old to young.

Author: M ichaela Grein, Deutsche Huntington Hilfe e.V.

A conversation with Prof. Dr. Markus Magerl from the Allergy Center Charite University Medicine Berlin on effective headache treatment. New therapies for hereditary angioedema (HAE). Markus Magerl of the Allergie-Centrum-Charite-Universitatsmedizin Berlin about effective. New therapies for hereditary angioedema (HAE).

Prof. Dr. Markus Magerl

Professor at the Allergy Center-Charite-University Medicine Berlin

You have been caring for HAE patients for many years now. What is the difficulty in diagnosing this disease?

The biggest challenge is certainly that doctors are aware of them at all. Typically, pediatricians would be the first to become aware of it. But emergency departments, allergists and dermatologists also regularly come into contact with HAE. HAE, as a genetic disease, usually breaks out in early adolescence. 90 percent of the patients have become symptomatic by the age of 21. become symptomatic at the age of 21.

Where are the greatest risks of confusion with other, more common diseases?

HAE is manifested by visible swellings that are often mistaken for allergies. In case of swelling in the larynx area it can even become life-threatening. In addition, there are strong, cramping abdominal pains, which can often last for days. Unfortunately, this can indicate a whole range of diseases, such as gallstones, inflammation in the abdomen or renal colic. For this reason, numerous HAE patients have been operated on in the past, often on the appendix. As it then turned out, the operation was mostly unnecessary, it was "only" an HAE attack. Especially in children, abdominal pain can have numerous causes, HAE is only one of them. One in 50.000 people are estimated to suffer from HAE. Many doctors will therefore not encounter the disease HAE in their patients. It requires the necessary experience, but also the knowledge and awareness that it exists. Each rare disease is rare in its own right. But the rare diseases themselves are not really so.

Has progress been made in the diagnosis of the disease in recent years??

I have been taking care of the first patients in a smaller group at the Charite since 2003. In the meantime, we care for 200 people with the disease. So there is more experience with it. Awareness of this. Detection after a test is then the least of the problems. One or two blood values from the laboratory are enough to provide information. In HAE, a functional protein is missing. This deficiency can be quickly proven.

What is the therapy after diagnosis?

In principle, there are two strategies for treatment: either acute treatment of the swelling that occurs or, as part of prophylaxis, striving to prevent the occurrence of attacks. In the past, women as well as men were often treated with male sex hormones. This leads to numerous, not harmless side effects, including masculinization or even high blood prere or elevated liver values. Since the C1-INH protein is missing from the blood plasma, it is now being administered to the affected patients. That is already a huge step forward. Until now, patients had to inject the drug intravenously. This meant appropriate training for self-injection, hygiene, a lot of rest and space. In addition, it was usually necessary twice a week. New drugs are now available that require patients to take injections only twice a month, and some patients even less frequently. In addition, it is possible subcutaneously. As with the insulin injection, the injection is sufficient just under the skin. You don't have to hit a specific spot exactly like you do with intravenous use. This is comparatively easy. Works almost in passing. Patients injected with an antibody that prevents seizures. According to our study, which was also conducted at the Charite, they reduce the frequency of swellings by almost 90 percent, and almost every eighth patient is completely free of attacks.

What effect does a therapy tailored to the patient have on everyday life??

With all therapies it is true that patients are not cured by them. But if medication works well, they can finally get their disease out of their head. In the past it was constantly present. An emergency plan with medication is mandatory in these patients. They used to be afraid, for example, that they would experience an attack during weekend excursions and that a hospital would always have to be nearby for precautionary measures. This psychological suffering often falls away, they live free of HAE symptoms and feel healthier.

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