Li Fraumeni Syndrome

The Li Fraumeni Syndrome is a hereditary disease that leads to increased tumor formation at a young age. The tumors that develop are mostly malignant and can affect a wide variety of organs and body regions. The disease occurs very rarely.

What is Li Fraumeni Syndrome?

Under the Li Fraumeni Syndrome Experts understand a genetic defect that is inherited in an autosomal dominant manner. Malignant tumors often develop in the affected people in childhood or puberty.

These can affect various parts of the body. However, tumors of the adrenal glands, breast cancer, bone cancer and leukemia are particularly common in connection with Li Fraumeni syndrome. The risk of cancer for a person with Li Fraumeni syndrome is significantly increased:

While healthy people under 30 statistically only have a 1% risk of developing cancer, the probability with the genetic defect is 50%. The disease occurs very rarely.

causes

The causes for that Li Fraumeni Syndrome lie in a genetic defect. The so-called autosomes (the chromosomes that do not belong to the sex chromosomes) are affected here.

In 70% of all cases of Li-Fraumeni syndrome, it is a mutation of the TP53 gene, which is of decisive importance for tumor suppression (i.e. for preventing tumor growth). As a result, there is an increased tumor formation. If there is no detectable mutation in the gene, the disease can also arise due to a signal transmission disruption in the context of tumor suppression.

Most people with Li Fraumeni syndrome come from families who have already had the disease. On the other hand, almost a quarter of those affected become ill due to a spontaneous gene mutation.

Symptoms, ailments & signs

Depending on the region of the body where the tumor is located, Li-Fraumeni syndrome can cause very different symptoms and complaints. If the adrenal glands are affected, hormonal imbalances can occur, which can manifest themselves in the form of high blood pressure, muscle cramps, external changes and depression, among other things. With blood pressure palpable metastases form, which can also cause hormonal disorders.

Bone cancer can manifest itself through pain, restricted mobility and swelling. Typical of such a cartilage sarcoma is also the severe course - more than 50 percent of those affected die within the next five years. Central nervous system tumors also have a poor prognosis. They express themselves through paralysis, failure symptoms, nerve pain and a number of other symptoms and complaints.

Leukemia can be recognized externally and in the course of the disease causes symptoms such as nausea and vomiting, fatigue and reduced physical and mental performance. So, symptoms of Li Fraumeni syndrome can affect the entire body and cause a wide variety of health problems. The tumor usually arises at a young age and develops rapidly. It is primarily malignant tumors that are severe and in many cases fatal.

Diagnosis & course

The presence of a Li Fraumeni Syndrome can be identified in many cases (approx. 70%) on the basis of a detectable mutation in the TP53 gene. If there is such a change, the existence of the disease is practically proven.

The remaining 30% of those affected, however, have no visible genetic changes. Here the diagnosis takes place based on the so-called clinical appearance. Anyone who has a sarcoma before the age of 45 and has at least one first or second degree relative who has cancer or sarcoma in general before the age of 45 is very likely to suffer from Li Fraumeni syndrome. Since the disease brings with it malignant tumor formations, it is basically to be classified as life-threatening.

Complications

Due to the Li Fraumeni syndrome, malignant tumors develop. These can lead to the death of the patient in the long term. In most cases, these tumors develop in the early years of the patient. However, the further course of the disease depends heavily on the organs affected, so that a general course of this disease cannot usually be predicted.

In general, this leads to tiredness and a reduced resilience of the person concerned. Patients can also suffer from pain or various malformations and limitations in everyday life. The quality of life of those affected is significantly reduced due to Li Fraumeni syndrome.Parents and relatives also suffer greatly from the symptoms of this syndrome and can develop psychological complaints and depression as a result.

The earlier the tumors are detected, the better they can be removed and treated. However, complete healing cannot be guaranteed. In some cases the symptoms of Li Fraumeni syndrome lead to the death of the person concerned or to a significant reduction in life expectancy. With the help of chemotherapy, some symptoms can be limited. The therapy itself, however, is associated with various side effects.

When should you go to the doctor?

The Li-Fraumeni syndrome initially manifests itself through general symptoms such as fatigue, weight loss and malaise. These symptoms usually indicate a serious condition, especially if they occur over a long period of time, and must therefore be clarified by a doctor. Affected people should inform their family doctor quickly if they experience pain or even skin changes. Swelling or nodules are clear warning signs that are best investigated immediately.

The risk groups include cancer patients and people in whose close relatives there are cases of the rare syndrome or another cancer disease. The disease occurs before the age of 45, usually in childhood and adolescence, and progresses progressively. Li Fraumeni syndrome is treated by a family doctor or a dermatologist. Serious illnesses may need to be treated in a specialist clinic. In principle, the hereditary disease is a serious condition that requires close monitoring by a specialist. There is also an increased risk of recurrence, which is why further medical examinations are indicated even after the tumor has been removed.

Treatment & Therapy

Was that Li Fraumeni Syndrome diagnosed by the attending physician, the individual therapy depends on the patient's state of health. In most cases, cancer is already present, which has led to a doctor's visit and diagnosis.

Of course, this must be treated with priority so as not to endanger the life of the person concerned. Depending on the type of cancer and the stage in which it is, there is a high probability that chemotherapy will take place. This destroys the cancer cells in the body and prevents them from spreading further in the organism. Under certain circumstances, surgery may also be recommended to remove tumors that have already formed.

This should be followed by extensive follow-up care as well as regular routine examinations at a later date in order to detect further tumor formation at an early stage. There is still no effective therapy for Li Fraumeni syndrome itself. However, the latest research is experimenting with introducing healthy DNA into the cancer cells in order to subsequently generate healthy genetic material and prevent further tumor formation.

If desired, patients with Li Fraumeni syndrome can receive the not yet approved drug Advexin if other treatment approaches are unsuccessful and their lives are acutely threatened by the progression of the disease.

Outlook & forecast

Li Fraumeni syndrome is characterized by an unfavorable prognosis. As a result of the syndrome, patients suffer from malignant tumors in the first few years of life. Without treatment, premature death occurs relatively quickly. Life expectancy is often estimated at around five years.

Because it is a genetic disorder, causal therapy cannot be used. Due to the current legal situation, researchers and scientists are prohibited from changing human genetics. Therefore, the treating doctors try to recognize the symptoms of the disease as early as possible and to treat them. Nevertheless, it is basically a race against time. By mutating the genes, different tumors form in the organism. The cancer cells divide and are transported to other parts of the body via the bloodstream. Metastases often develop there, although cancer therapy for a tumor is taking place in a different part of the body at the same time.

All tumors that develop basically have a malignant growth. The quality of life is severely limited as the person will experience multiple cancers over the course of their life due to the effects of the disease. Despite all efforts, life expectancy is significantly reduced overall. In only about half of those infected, the risk of a subsequent tumor disease is at the level of a healthy person.

prevention

Since the Li Fraumeni Syndrome In most cases it is a genetic mutation that is inherited, prevention in the strict sense is not possible. If the first signs of cancer appear, it is of course always necessary to see a doctor quickly. Particularly in the case of tumor formation at a young age and with a family history, an examination regarding Li-Fraumeni syndrome is also advisable in this context in order to be able to initiate further appropriate steps.

Aftercare

After the actual cancer treatment, those affected need ongoing care. In addition to regular medical examinations and the use of other therapies, a change in lifestyle is also part of the follow-up care. Those affected now have to build quality of life again.

The support of the responsible doctors as well as relatives and friends is important in order to find a good way of dealing with the disease. Visiting a self-help group can also be an important aspect of aftercare. Depending on the type of cancer, the aftercare plan is drawn up together with the doctor. He or she is guided by the symptoms of the type of cancer, the general course of the disease and the prognosis. Follow-up care is particularly important in the first phase, when patients are still processing the consequences of the disease and treatment. It is crucial to support the patient until a remission is achieved.

You can do that yourself

As a rule, the possibilities for self-help with Li-Fraumeni syndrome are very limited. The course and treatment of this syndrome are also very dependent on the exact region of the tumor formation, so that a prognosis is difficult to predict. However, with this syndrome, patients will need medical treatment to remove it.

Regular examinations contribute to the early detection and treatment of tumors in Li Fraumeni syndrome. This can increase the life expectancy of the person affected. The internal organs in particular should be examined regularly. Furthermore, the patient should lead a healthy lifestyle and avoid addictive substances in order not to further promote tumor formation.

Talking to close friends or family members very often helps with mental health problems. Contact with other sufferers of Li Fraumeni syndrome can also have a positive effect on the disease and continue to alleviate psychological complaints. An exchange of information can also take place, which can possibly improve the quality of life of the person concerned. Despite permanent treatment and regular examinations, Li-Fraumeni syndrome ultimately leads to a reduced life expectancy for the person affected.