Scheie’s disease is a very rare inherited disorder. Medical experts believe that Scheie’s disease is an attenuated course of mucopolysaccharidosis type I (also known as MPS I), a lysosomal storage disease. Scheie disease can be compared to Hurler disease, although Scheie disease has a much milder course. For example, the symptoms of Scheie’s disease are less severe. Scheie’s disease also does not affect the life expectancy of the affected person.
What is Scheie’s disease?
Medical professionals refer to Scheie’s disease as milder mucopolysaccharidosis type I. MPS I is also a very rare disease; physicians estimate the frequency at 1:145,000. Milder forms, precisely Scheie’s disease, occur even more rarely. Here, physicians estimate the incidence at 1:500,000 births. Scheie’s disease can be triggered by various mutations, and doctors distinguish between three different forms: Hurler-Scheie disease, Hurler disease and Scheie disease. The mutation of Scheie’s disease is located at the IDUA gene (gene port 4p16.3). The symptoms that occur in Scheie’s disease are similar to those of Hurler’s disease, but not as severe. The course of the disease is milder.
Causes
As with all MPS I disorders, Scheie disease is due to a defect in the so-called alpha-L-iduronidase enzyme. This mutation subsequently leads to the glycosaminoglycans (GAGs) not being cleaved and then not being broken down. This leads to an accumulation of glycosaminoglycans in the lysosomes located in the body cells. Heparan sulfates and dermatan sulfates are also deposited. Those circumstances lead to an impairment of the cell function. Subsequently, the typical symptoms appear, whereby Morbus Scheie has an individual clinical picture. This is sometimes the reason why physicians have problems detecting Scheie’s disease in its early stages.
Symptoms, complaints, and signs
If Scheie’s disease is present, not all symptoms that are indicative of an MPS I disorder are fully expressed. Most notably, the enzyme defect causes impairment of the skeleton, eyes, and heart. Typical long-term symptoms include:
Corneal opacities, joint stiffness and joint contractures (claw hands are classic), inguinal and umbilical hernias, spinal cord compression (upper cervical spine), hip dysplasia, and hearing loss. Recurrent pulmonary infections, diseases of the heart valves and muscle, diseases of the spinal cord, and carpal tunnel syndrome (occurring even in children and adolescents) are also symptoms of Scheie’s disease. It should be noted that such symptoms often also appear later in the course of the disease. Early signs include umbilical and inguinal hernias; carpal tunnel syndrome may also occur at a young age. While Hurler’s disease involves a severe course because the central nervous system is also affected, the central nervous system is not affected in Scheie’s disease. Patients suffering from Scheie’s disease therefore have a normal mental development and the same intelligence as non-affected persons. It should be noted that Scheie’s disease presents a different appearance; Hurler’s disease may therefore be “easier” to recognize. Even though there are visual abnormalities – such as coarse facial features and stocky build – these are not as pronounced. However, there are also patients with Scheie’s disease who already have skeletal changes and exhibit the typical gait pattern. However, these are rare. As a rule, Scheie’s disease does not provide a noticeable appearance.
Diagnosis and course of the disease
Because Scheie’s disease involves a delayed course of the disease and, in addition, there is a variable clinical picture, the diagnosis can often be made quite late. In many cases, therefore, Scheie’s disease is not diagnosed until puberty or adulthood. However, an early diagnosis is advisable due to the progressive course of the disease. Especially if it is a mild form of Scheie’s disease, early diagnosis is desirable to slow down the progression so that several symptoms do not occur at all. If there is sometimes only the suspicion that it could be Scheie’s disease, the physician can order a blood test. In this case, an indirect genetic test is performed, which in the end confirms whether it is Scheie’s disease or not. After the diagnosis, the therapy is started immediately.People who have Scheie disease have a normal life expectancy – compare with patients who have Hurler disease.
Complications
Scheie’s disease leads to many different symptoms that can significantly reduce and limit the patient’s quality of life. In most cases, affected individuals suffer from severe joint stiffness and also corneal opacities in the process. As a result, the vision of the affected person may also be limited. Furthermore, hearing loss also occurs, so that the patient’s everyday life is also significantly restricted. The heart also suffers from various symptoms, which in the worst case can lead to cardiac death. The life expectancy of the affected person is significantly reduced and limited by Scheie’s disease. Especially the development of children is significantly delayed by this disease. Changes and deformations of the skeleton also occur, which can also lead to gait disorders. Children can become victims of teasing or bullying as a result. Unfortunately, Scheie’s disease cannot be treated causally. For this reason, there is only symptomatic therapy aimed at alleviating the symptoms. Particular complications do not occur as a result. In some cases, however, patients are dependent on the help and support of other people in their daily lives.
When should you see a doctor?
This disease is a very rare genetic defect that requires mandatory medical and also drug treatment. A complete cure is not possible according to the current state of medical technology. However, the symptoms can be alleviated to a large extent, so that a life with this disease is quite possible and can be made bearable. The individual symptoms can be greatly alleviated with appropriate medication and some can even be completely eliminated. Many affected persons complain about a strong corneal opacity. However, this existing symptom can be eliminated by initiating appropriate treatment. Other symptoms include hearing loss, carpal tunnel syndrome and hip dysplasia. When these symptoms appear is difficult to predict. Often, some symptoms do not appear until adulthood. Nevertheless, going to the doctor should not be delayed. Those who decide to seek treatment at the first symptoms can expect a significant and rapid improvement. However, those who completely forgo medical and drug treatment experience a significantly more difficult course of the disease.’Serious complications must be expected, which may even be life-threatening under certain circumstances.
Treatment and therapy
Since 2003, a promising long-term treatment has been offered – especially for Scheie’s disease. In this context, physicians refer to enzyme replacement therapy. This involves the use and application of a biotechnologically produced enzyme so that GAGs can be cleaved and broken down again. However, long-term treatment can only alleviate the symptoms; there is no cure for Scheie’s disease. It should be noted that long-term treatment mainly helps with Scheie’s disease. In more severe forms and courses, even such therapies bring only limited success. The goal of treatment is therefore to alleviate the symptoms and improve the quality of life. If such a therapy is carried out in the early stage of the disease, various complaints that are only possible with the further course of the disease can be prevented in advance.
Outlook and prognosis
Scheie’s disease offers a relatively good prognosis. Although the symptoms are varied, most complaints can be treated effectively. If the disease is recognized in childhood on the basis of early-onset inguinal and umbilical hernias, there is a good chance of complete recovery. If leading symptoms such as typical heart disease or dysplasia have already developed, complete recovery is difficult to achieve. Patients must undergo long-term treatment, and long-term therapy is an enormous physical and psychological burden. People with Scheie’s disease have an approximately normal life expectancy. The condition can be treated effectively since 2003. Enzyme replacement therapy replaces the defective enzyme, thereby stopping the physical processes. As a result, affected people can lead an almost normal life.The prognosis is based on the respective symptom picture and the associated complaints. Therefore, the final prognosis must be made by a specialist. For this purpose, he will include various test values, the previous course of the disease, the patient’s constitution and some other factors. Thus, an accurate prognosis can be made, which, however, must always be adjusted.
Prevention
Because it is a hereditary disease, Scheie’s disease cannot be prevented. It is important that even if early diagnosis proves difficult, a medical professional is consulted at the slightest suspicion to clarify whether or not it is Scheie’s disease. If treatment begins in the early stages of the disease, the progression can be slowed down so that various symptoms do not appear in the first place.
Aftercare
As a rule, direct aftercare measures for Scheie’s disease are significantly limited, so those affected by this disease should see a doctor at a very early stage. There can be no cure on its own, as it is a genetic disease. Therefore, even in the case of an existing desire to have children, genetic testing and counseling should be performed to prevent the recurrence of Scheie’s disease in the descendants and the children. Therefore, early detection and treatment is the main priority in this disease. Affected individuals are usually dependent on taking various medications. Here the instructions of the physician are to be considered, whereby with questions or ambiguities also first a physician should be consulted. Furthermore, the correct dosage and also the regular intake of the drugs must be observed. Most patients with Scheie’s disease are dependent on regular examinations and controls by a doctor. In this regard, contact with other patients of the disease can also be very useful, as it comes to an exchange of information, which can facilitate the everyday life of the affected person.
What you can do yourself
In the case of Schleie’s disease, self-help in everyday life is only possible if it is aimed at treating the symptoms. Probably the most important way to counteract the disease is daily exercise. Regular walks alone can already prevent possible consequences of Schleie’s disease that limit patients’ ability to move. If the affected person is capable of more demanding sporting activities, then this is also recommended. In case of doubt, the degree of exertion should be clarified with a physician. A focus in the movement exercises should be especially on the hands. In the course of Schleie’s disease, important functions of the hands are restricted. This deterioration can be counteracted by regular exercises. Walks are suitable not only because of the movement in the self-help. Fresh air is also an important factor, as lung problems are a frequent consequence of the disease. Otherwise, sufferers should also make sure that the humidity and temperature of the air in the home contributes to comfortable breathing. Breathing exercises can also help to counteract any impairment of lung function. It can be concluded, then, that exercise and self-help measures, in particular, contribute to effective self-help in everyday life.