Definition A genetic disease or hereditary disease is a disease whose cause lies in one or more genes of the affected person. In this case, the DNA acts as a direct trigger for the disease. For most genetic diseases, the triggering gene locations are known. If a genetic disease is suspected, the respective diagnosis can … Genetic diseases
How hereditary diseases are inherited Every hereditary disease is inherited either monogenetically or polygenetically: this means that there is one or more gene locus that must be altered in order to cause a disease. Furthermore, genetic traits can always be inherited dominantly or recessively: Recessive means that there must be a predisposition for this particular … How hereditary diseases are inherited | Genetic diseases
Xeroderma Pigmentosum Xeroderma pigmentosum is a rare, hereditary disease in which certain enzymes in the skin of the affected individuals do not function. These enzymes normally repair the DNA, which can be damaged by sunlight or the UVB light it contains. The UVB damage can cause skin cancer in affected as well as in all … Xeroderma Pigmentosum | Genetic diseases
Diagnosis of Still’s disease In order to arrive at the correct diagnosis, the exact anamnesis, i.e. the collection of the medical history, is crucial. Especially the symptoms are important. In addition, various blood tests are performed. A characteristic feature of Still’s disease is a significant increase in the inflammatory parameters in the blood. These include … Diagnosis of Still’s disease | Morbus Still
Course of Still’s disease In most cases, the disease begins with recurrent fever attacks and rashes as well as tiredness and exhaustion. Joint complaints often manifest themselves months after the first symptoms appear. The course of the disease and the prognosis vary greatly from individual to individual.In some cases, the disease completely recedes in childhood … Course of Still’s disease | Morbus Still
What is Still’s disease? Still’s disease is also known as systemic juvenile idiopathic arthritis. This is a rheumatic disease that affects not only the joints but also the organs. The word juvenile means that it is a childhood disease, with less than one child per 100,000 children in Europe suffering from Still’s disease per year. … Morbus Still
Which organs can be affected by Still’s disease? It is characteristic of Still’s disease that internal organs are also affected in addition to the joint involvement. Various organs can become inflamed during the course of the disease and thus lead to complaints. The peritoneum (peritonitis), the pericardium (pericarditis) and the lung skin (pleuritis) are most … Which organs can be affected by Still’s disease? | Morbus Still
Alternative spelling Factor V Leiden Introduction/Definition Factor 5 Leiden, also known as APC resistance, is a disease that affects the body’s so-called coagulation system. The coagulation system ensures that when an injury occurs, the blood coagulates quickly, the bleeding is stopped and the wound can heal. In addition to the blood platelets (thrombocytes), there is … Factor 5 Leiden
Symptoms The Factor 5 Leiden itself does not cause any symptoms in the absence of bleeding. However, the disease interferes with the body’s coagulation system and causes a blood clotting disorder. This blood-clotting disorder is the reason why the probability of developing a blood clot increases dramatically. How much the probability of such an event … Symptoms | Factor 5 Leiden
Cause The cause of a factor 5 condition is genetic. A mutation in the gene responsible for the formation of the protein “Factor 5” makes this factor resistant to the activated protein C, which in turn leads to increased clotting. Factor 5 Leiden thus represents the best-known innate form of APC resistance. In most cases, … Cause | Factor 5 Leiden
Prognosis The individual prognosis in case of existing Factor 5 Leiden depends on whether the mutated gene is heterozygous, i.e. only once, or homozygous, i.e. twice. If the mutated gene has been passed on from mother and father to the child, i.e. if the affected person is homozygous, the probability of a blood clot occurring … Prognosis | Factor 5 Leiden
The Pill and Factor 5 Suffering The colloquially known “pill” includes the group of so-called anticonceptives. These are not only used for contraception, but can also be used for other gynecological diseases and for example the so-called iron deficiency anaemia. However, various undesirable side effects can occur. In particular, the estrogen contained in the pill … The Pill and Factor 5 Suffering | Factor 5 Leiden
