Scheie’s disease is a very rare hereditary disease. Doctors assume that Scheie’s disease is a weakened form of mucopolysaccharidosis type I (also known as MPS I), a lysosomal storage disease. Scheie’s disease can be compared to Hurler’s disease, with Scheie’s disease having a significantly milder course of the disease. The symptoms of Scheie’s disease are less pronounced. Scheie’s disease also has no effect on the life expectancy of those affected.
What is Scheie’s disease?
Physicians refer to Scheie’s disease as a milder type I mucopolysaccharidosis. MPS I is also a very rare disease; Doctors estimate the frequency at 1:145,000. Milder forms, such as Scheie’s disease, occur even more rarely. Here doctors assume 1:500,000 births. See growtheology for Comprehensive Guide to Hypophosphatasia.
Scheie’s disease can be triggered by various mutations, with doctors distinguishing between three forms: Hurler-Scheie ‘s disease, Hurler ‘s disease and Scheie’s disease. The mutation of Scheie’s disease lies in the IDUA gene (gene port 4p16.3). The symptoms that occur with Scheie’s disease are similar to those of Hurler’s disease, but not as pronounced. The course of the disease is milder.
Causes
As with all MPS I diseases, Scheie’s disease is based on a defect in the so-called alpha-L-iduronidase enzyme. This mutation subsequently leads to the fact that the glycosaminoglycans (GAGs) cannot be cleaved and then also cannot be broken down. This leads to an accumulation of glycosaminoglycans in the lysosomes in the body cells.
Heparan sulphate and dermatan sulphate are also stored here. Those circumstances lead to impairment of cell function. The typical symptoms then appear, with Scheie’s disease having an individual clinical picture. This is sometimes also the reason why doctors have problems diagnosing Scheie’s disease in the early stages.
Symptoms, Ailments & Signs
If Scheie’s disease is present, not all symptoms that speak for MPS I disease are fully developed. Above all, the enzyme defect causes impairments of the skeleton, the eyes and the 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.
Recurring lung infections, diseases of the heart valves and the heart muscle, diseases of the spinal cord and carpal tunnel syndrome (already occurring in children and adolescents) are symptoms of Scheie’s disease. It should be noted that such symptoms often only appear later in the course of the disease. The first signs include umbilical and inguinal hernias ; carpal tunnel syndrome can also occur at a young age.
While Hurler’s disease entails a severe form of the disease, since the central nervous system is also attacked here, the central nervous system is not affected in Scheie’s disease. Patients suffering from Scheie’s disease therefore have normal mental development and the same intelligence as non-affected people.
It should be noted that Scheie’s disease presents a different picture; Hurler’s disease can therefore be recognized “easier”. Even if there are visual anomalies – such as rough facial features and stocky physique – they are not that pronounced. But there are also Scheie’s disease patients who already have skeletal changes and show the typical gait pattern. However, those form the rarity. As a rule, Scheie’s disease does not cause a noticeable appearance.
Diagnosis & course of disease
Since Scheie’s disease involves a delayed course of the disease and there is also a variable clinical picture, the diagnosis can often only be made at a very late stage. In many cases, Scheie’s disease is therefore not diagnosed until puberty or adulthood. However, early diagnosis is advisable due to the progressive course.
Especially when it comes to a mild form of Scheie’s disease, early diagnosis is desirable in order to slow down the progression, so that several symptoms cannot occur at all. If there is only a suspicion that it could be Scheie’s disease, the doctor can order a blood test.
An indirect genetic test is carried out, which in the end confirms whether it is Scheie’s disease or not. Therapy begins immediately after diagnosis. Compared to patients suffering from Hurler’s disease, people suffering from Scheie’s disease have a normal life expectancy.
Complications
Scheie’s disease leads to many different complaints that can significantly reduce and restrict the patient’s quality of life. In most cases, those affected suffer from severe joint stiffness and also corneal opacities. This may also limit the view of the person concerned. Furthermore, there is also a hearing impairment, so that the everyday life of the patients is also significantly restricted.
Various complaints also occur in the heart, so that in the worst case it can lead to cardiac death. The life expectancy of those affected is significantly reduced and limited by Scheie’s disease. The development of children in particular is significantly delayed by this disease. There are also changes and deformations in the skeleton, which can also lead to gait disorders. Children can become victims of teasing or bullying.
Unfortunately, Scheie’s disease cannot be treated causally. For this reason, only symptomatic therapy aimed at alleviating the symptoms takes place. This does not result in any particular complications. In some cases, however, patients are dependent on the help and support of other people in their everyday lives.
When should you go to the doctor?
This disease is a very rare genetic defect that requires medical and drug treatment. A complete cure is not possible according to the current state of medical technology. However, the symptoms that occur can be alleviated as far as possible, so that 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 people complain of severe corneal opacity. However, this existing symptom can be resolved by initiating appropriate treatment.
Other symptoms include hearing loss, carpal tunnel syndrome and hip dysplasia. It is difficult to predict when these symptoms will appear. Often some symptoms do not appear until adulthood. Nevertheless, the trip to the doctor should not be delayed. Anyone who decides to have treatment when the first symptoms appear can expect a clear and rapid improvement. However, anyone who completely foregoes medical and drug treatment experiences a significantly more difficult course of the disease. Serious complications must be expected, which can even be life-threatening under certain circumstances.
Treatment & Therapy
A promising long-term treatment has been available since 2003, especially for Scheie’s disease. The physicians refer to the enzyme replacement therapy. A biotechnologically produced enzyme is used and applied so that GAGs can be split and broken down again. However, long-term treatment can only relieve symptoms; There is no cure for Scheie’s disease.
It should be noted that long-term treatment mainly helps with Scheie’s disease. In the case of more severe forms and courses, such therapies only have limited success. The goal of treatment is to relieve symptoms and improve quality of life. If such a therapy takes place in the early stages of the disease, various complaints that are only possible as the disease progresses can be prevented in advance.
Outlook & Forecast
Scheie’s disease has a relatively good prognosis. Although the symptoms are varied, most complaints can be treated effectively. If the disease is recognized in childhood based on the early occurrence of inguinal and umbilical hernias, there is a chance of a full recovery.
If key symptoms such as typical heart disease or dysplasia have already developed, it is difficult to achieve full recovery. The patients have to undergo long-term treatment, with the long-term therapy being an enormous physical and mental burden. People with Scheie’s disease have an almost normal life expectancy. The condition has been effectively treated since 2003. The enzyme replacement therapy replaces the defective enzyme, which stops the bodily processes. As a result, those affected 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 he will include various test values, the previous course of the disease, the constitution of the patient and some other factors. This allows an exact forecast to be made, which, however, has to be adjusted again and again.
Prevention
Since it is a hereditary disease, Scheie’s disease cannot be prevented. It is important that even if an early diagnosis proves difficult, if there is even the slightest suspicion, a doctor is consulted to clarify whether it is Scheie’s disease or not. If treatment begins in the early stages of the disease, the course can be slowed down so that various symptoms do not appear in the first place.
Aftercare
As a rule, the measures of direct aftercare for Scheie’s disease are significantly limited, so that those affected by this disease should consult a doctor at a very early stage. It cannot heal on its own because it is a genetic disease. Therefore, if you wish to have children, a genetic examination and counseling should be carried out in order to prevent Scheie’s disease from reoccurring in the descendants and children.
The focus of this disease is therefore early detection and treatment. Those affected are usually dependent on taking various medications. The doctor’s instructions must be observed here, and if you have any questions or are unclear, you should consult a doctor first.
Furthermore, the correct dosage and the regular intake of the drugs must be observed. Most of those affected by Scheie’s disease are dependent on regular examinations and checks by a doctor. Contact with other patients with the disease can also be very useful, as this leads to an exchange of information, which can make everyday life easier for those affected.
You can do that yourself
In the case of Schleie’s disease, self-help in everyday life is only possible if it aims to treat the symptoms. Probably the most important way to counteract the disease is daily exercise. Regular walks alone can prevent possible consequences of Schleie’s disease, which limit the patient’s ability to move. If the affected person is capable of more demanding physical activity, then this is also recommended. If in doubt, the degree of exposure should be clarified with a doctor.
A focus in the movement exercises should be primarily 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 not only suitable because of the movement in self-help.
Fresh air is also an important factor, since lung problems are a common consequence of the disease. Those affected should also make sure that the humidity and temperature of the air in the apartment contribute to comfortable breathing. Breathing exercises can also help to counteract any impairment of lung function. It can therefore be stated that above all exercise and self-help measures contribute to effective self-help in everyday life.
