The Thalidomide thalidomide embryopathy leads to developmental malformations of the embryo in early pregnancy. The cause is exposure to the pollutant thalidomide or thalidomide. The treatment of the affected patients takes place in an interdisciplinary team of doctors and usually lasts for a lifetime.
What is thalidomide thalidomide embryopathy?
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Embryogenic development disorders caused by harmful influences during the first three months of pregnancy are embryopathies. Contergan-associated malformations are known as thalidomide thalidomide embryopathy. Thalidomide, formerly also known as Contergan, is a glutamic acid derivative that has a depressant effect on the central nervous system.
The immune system is downregulated by the drug, so that the drug is also associated with anti-inflammatory properties. Due to its active ingredients, thalidomide is one of the piperidinediones and thus represents a structural modification of the barbiturates.
In Germany, the drug Contergan was sold without a prescription in the 1950s and was mainly used as a sleeping pill and sedative. Because of the side effects of taking it, the greatest scandal in the German pharmaceutical industry developed in the 1970s. Charges against the Grünenthal company for assault and negligent homicide increased. Many of the patients suffered from polyneuritis after taking it.
The use of Contergan during the first three months of pregnancy also had harmful effects on embryogenesis, so that 10,000 children were born with Contergan-associated malformations.
causes
Thalidomide thalidomide embryopathies are caused by medicines containing thalidomide that women took during the first three months of pregnancy. In this early development phase of the embryo, the unborn child is particularly susceptible to all external influences. For this reason, pregnancies are usually kept secret until the fourth month.
The embryo often dies in response to exposure to harmful substances in the first three months. Thalidomide thalidomide embryopathies can also cause a miscarriage, depending on their severity. If the child survives exposure to harmful substances and is born with it, the embryopathy manifests itself in deformities. If the expectant mother has taken medication containing thalidomide between day 34 and day 38 after her last menstrual period, the exposure to harmful substances usually leads to facial paralysis and missing auricles.
An exposure between day 40 and day 44 results in malformations of the arms. Between day 43 and day 46, malformations of the legs can also develop from exposure. Taking medication such as Contergan between day 48 and day 50 results in malbinding thumbs and narrowing of the rectum. The main cause of the malformations is the inhibition of ligase activity associated with the drug. This inhibition results from the binding of thalidomide to Cereblon.
Symptoms, ailments & signs
Patients with thalidomide thalidomide embryopathy suffer from a wide range of symptoms, which can differ greatly in their severity and which correlate with the degree and exact time of exposure. The body structures most commonly affected by damage are the arms. Malformations of the arms occur in more than half of all cases when thalidomide is taken during pregnancy.
In around a quarter of all cases, malformations affect the legs as well as the arms. The malformations can correspond to deformities or underdevelopments, whereby the lack of contact with a leg or arm is also possible. In a little more than ten percent of all cases, those affected also show malformations of the ears, which can extend from the auricles to over the inner ear.
The arms and ears are affected at the same time in about five percent of all cases. Malformations of the internal organs were only observed in around two percent of all those affected. Due to misalignments and deformities, patients often quickly suffer from degenerative changes in the joints, which can be accompanied by pain in the shoulders, elbows, hips, hands or spine. In addition to these consequential damages, mental illnesses can occur as a result of the malformations.
Diagnosis & course of disease
The diagnosis of thalidomide thalidomide embryopathy is usually made by visual diagnosis by the doctor if the patient has an anamnesis. The characteristic malformations are sufficient for a reliable diagnosis if the mother reports of taking thalidomide during pregnancy.
In order to get an idea of all the malformations, the doctor usually arranges a variety of imaging tests. This includes, for example, recordings of the internal organs. The prognosis of the patient depends to a large extent on the existing malformations as well as the strength and duration of the thalidomide exposure in the individual case.
Complications
Those affected by thalidomide thalidomide embryopathy must always expect serious complications due to the various complaints. Malformations of the arms generally lead to a reduced quality of life and also have considerable psychological effects on the patient and their parents. The malformations themselves can be associated with metabolic disorders, circulatory disorders, infections and other complications.
Malformations of the internal organs can also have serious consequences, depending on which organ is affected. This can lead to various kidney and liver diseases, disorders of the cardiovascular system and chronic gastrointestinal complaints. Degenerative changes in the joints are associated with pain, deformities and premature joint wear. An auricular malformation has mainly psychological consequences for those affected.
Due to the visual flaw, they often suffer from teasing or bullying and become aggressive or depressed as a result of social exclusion. TCE therapy is also associated with risks. The surgical interventions are usually complex and can cause further damage to the organs, joints, muscles and tendons.
Typical complications are infections, bleeding, secondary bleeding, wound healing disorders and allergic reactions. If implants are used, there is a risk that the organism will reject them again after months or years.
When should you go to the doctor?
With thalidomide thalidomide embryopathy, the person affected is always dependent on a medical examination and treatment, as it cannot heal independently. The earlier the disease is recognized and treated, the better the further course will usually be. A doctor should therefore be contacted at the first symptoms and signs of the disease in order to prevent the symptoms from worsening. As a rule, the doctor should be contacted for thalidomide thalidomide embryopathy if the person concerned suffers from various malformations.
These malformations can affect the ears or other areas of the face. Not infrequently, psychological complaints can also indicate thalidomide-thalidomide embryopathy and must also be examined. Most people also have severe pain in the shoulders or very stiff joints. If these symptoms occur, a general practitioner or a pediatrician should be contacted. Further treatment of thalidomide thalidomide embryopathy always depends on the exact symptoms and their severity. It is then carried out by a specialist. As a rule, the life expectancy of the person affected is not reduced by this disease.
Treatment & Therapy
Therapeutic care for people with thalidomide thalidomide embryopathy is provided by an interdisciplinary treatment team made up of doctors from various disciplines, physiotherapists, occupational therapists, psychologists and social workers. As a rule, lifelong care is required, which is associated with high personnel and financial expense.
If the internal organs are malformed, the patient's life can be at stake. For this reason, these deformities should initially be given the greatest attention. Invasive surgical corrections of the organic defects take place as far as possible. In extreme cases, an organ transplant may become necessary in the long run. Deformities of the arms and legs can also be treated surgically.
However, since the malformations are often the lack of attachment of limbs or limbs, a prosthetic restoration is often an option. In occupational therapy, patients learn how to deal with the disease on a daily basis and, if necessary, compensation strategies or the use of aids. Social workers primarily have an advisory role when it comes to donating aid from aid organizations.
In psychological sessions, the patients process their everyday challenges and learn how to deal with them. In this way, the risk of psychological complications can be minimized. If there are malformations of the joints, osteoarthritis often occurs as a result. In such a case, artificial joints may be required.
prevention
Expectant mothers can prevent thalidomide thalidomide embryopathy by not taking any associated medication during pregnancy. If medication cannot be withdrawn for health reasons, the decision against having a child is the only preventive measure.
Aftercare
Follow-up care for a thalidomide thalidomide embryopathy is heavily dependent on the malformations caused by the disease. In addition, thalidomide thalidomide embryopathy is usually treated for life, which is why classic follow-up treatment is not required. However, there are certain deformities of the ears, bones and joints that result in thalidomide-thalidomide embryopathy, the surgical therapy of which should be followed by follow-up treatment.
In the case of bone and joint diseases, this should consist of physiotherapeutic exercises that ensure the mobility and resilience of joints and bones. In addition, permanent pain therapy may be necessary here. In the case of malformations of bones and joints that are associated with pain, pain therapy should always be accompanied.
In addition to conservative, drug-based pain therapy, there are also many non-drug options that can provide pain relief. If there were malformations of the ears, regular check-ups should also be carried out by the ear, nose and throat specialist after their successful therapy in order to detect secondary diseases at an early stage.
Malformations of arms and legs can also be associated with pain for those affected, which is psychologically very stressful. This also applies to malformations that have to be treated for life and that cause severe mobility restrictions. Additional psychotherapy, possibly with accompanying psychiatric drug treatment, can provide relief and help patients cope with their limitations.
You can do that yourself
Children affected by thalidomide thalidomide embryopathy usually had to be supported with everyday tasks. In addition to medical and therapeutic treatment, which consisted of a variety of operations, medication and physiotherapy, sick children were supported at home. For this purpose, the apartment was equipped for disabled people, as far as this was possible in the 1960s.
It was also important to organize walking aids, a wheelchair and other aids at an early stage. Afterwards, a comprehensive explanation was important. Information material and books on the subject of Contergan made it easier for the affected children to deal with their malformations.
Today, however, thalidomide thalidomide embryopathy no longer occurs because the drug is no longer prescribed and the affected patients are already adults. People who suffer from a malformation as a result of their mother taking Contergan may be entitled to compensation. It is advisable to talk to a specialist doctor and a specialist lawyer for medical law.
People who suffer from severe malformations usually have to do physiotherapy for their entire life and are limited in their options. However, the quality of life can be improved through a fulfilled lifestyle. The Federal Association of Thalidomide Victims V. offers those affected further contact points and information material.
