Engelmann syndrome is the name given to a rare form of osteosclerosis. It is associated with a decrease in bone resilience and other symptoms and can be treated with various medications.
What is Engelmann syndrome?
Engelmann syndrome is a form of osteosclerosis that was discovered by German physiologist Theodor Wilhelm Engelmann. It is characterized by a number of symptoms, including increasing bone hardening and a concomitant reduction in bone load-bearing capacity. Since the disease is caused by a gene mutation, prevention in the classical sense is not possible. However, affected individuals can be treated with various medications after a comprehensive diagnosis, which includes various X-ray examinations. If this is done at an early stage, a positive course of the disease can be expected. However, if treatment is delayed, the symptoms spread to the base of the skull, which can lead to blindness, facial paralysis and deafness. On the other hand, in the worst case, damage to the brain occurs due to the narrowing of the nerve channels.
Causes
Engelmann syndrome is caused by a mutation on chromosome 19. More specifically, by a change in gene locus 19q13.1-13.3, resulting in damage to the so-called transforming growth factor. Here again, the beta-1 chain of the molecule is defective. Since the TFG is responsible for the formation of the bones, abnormalities of the bones and other disorders result from a gene defect. The pattern of symptoms can vary greatly from carrier to carrier, making a comprehensive diagnosis all the more important. The gene mutation is inherited in an autosomal dominant manner, but there are also sporadic cases. Thus, it is possible for the mutation to skip a generation, with the individual continuing to serve as a carrier and inheriting the defective gene.
Symptoms, complaints, and signs
People who suffer from Engelmann syndrome already have to deal with severe symptoms in early childhood. For example, scleroses and hyperostoses form on the long tubular bones shortly after birth. Initially, only the lower legs are affected, before the disease spreads to other bones and, if not treated, eventually affects the entire bone structure. As the bony nerve canals are also affected in the later course of the disease, cranial nerve paresis occurs and this in turn leads to further symptoms and secondary diseases. Visual impairment and deafness can occur as well as total blindness and facial paralysis. Although intelligence remains unaffected, children in particular experience headaches, fatigue and concentration difficulties. In addition, puberty is often delayed. Bone pain also occurs, there are problems with walking, and those affected suffer from hypotonia of the muscles of the extremities. Furthermore, intrinsic diseases of the musculature, also known as myopathy, occur. This often leads to anemia and leukopenia and, depending on the clinical picture, to other symptoms. Raynaud’s syndrome, a vascular disease that can be recognized by a blue discoloration of the fingers and pale skin, is particularly common.
Diagnosis and course
Engelmann syndrome is diagnosed by X-ray examination. This reveals typical signs such as enlarged medullary cavities and unusual thickening of the cortical layer on the affected long bones. In addition, various examinations are performed to rule out other osteoscleroses such as craniodiaphyseal dysplasia. However, this is not always successful due to the high variability of symptoms and their expression, which is why an additional medical history is necessary. This focuses on similar diseases in the family of the affected person, whereby the first appearance of the symptoms and other special features are also taken into account. An illness diary can be a useful addition to the anamnesis. Furthermore, the discussion between doctor and patient clarifies how severe the pain is, where it occurs and whether there have already been any paralysis symptoms mentioned. On the one hand, this helps to determine whether it is Engelmann syndrome and on the other hand, it can be clarified in which stage the disease is. The course of the disease is generally assessed rather positively.With early treatment, the clinical and radiographic abnormalities can be treated comprehensively, and secondary symptoms such as short stature are not uncommon. If the disease is not treated, other bones will be affected later in the course of the disease and finally the skull base will be affected. If pinched nerves occur here, neurological deficits and further, sometimes fatal symptoms are the result.
Complications
As a rule, the load-bearing capacity of the bones is reduced in Engelmann syndrome. In this case, even minor accidents or impacts result in bone fractures. In this case, the patient is restricted in his or her daily life and cannot perform physically heavy work. In most patients, the first complications occur immediately after birth. Sclerosis forms in the process. In the course of life, the disease spreads to other bones and eventually to the entire body. Likewise, Engelmann syndrome negatively affects vision and hearing. Complete deafness may result. Blindness does not usually occur. There are no mental restrictions in the patient, so that thinking and acting are possible in the usual way. Due to the pain in the bones, many people also experience pain when walking. This results in an unnatural way of walking, which can be perceived as bizarre by other people. Children and teenagers in particular are bullied because of this. Treatment is possible through the addition of steroids. However, often not all symptoms of Engelmann syndrome can be addressed. In addition to drug treatment, physical therapy can also be helpful and supportive.
When should you see a doctor?
Children suffering from Engelmann syndrome need medical treatment from early childhood. In most cases, the condition is diagnosed immediately after birth and treatment is then initiated immediately. Further visits to the doctor are necessary if complications develop or unusual symptoms and complaints are added. For example, in the event of sudden onset of headaches, difficulty concentrating or symptoms of fatigue, the pediatrician or family doctor should definitely be consulted. If the sclerosis and hyperostosis that typically occur cause movement restrictions, it is best to consult an orthopedist or chiropractor. At the first sign that the disease has spread to other bones, the child must be taken to a specialized clinic. Immediate medical evaluation is also required with severe bone pain, problems walking, and secondary conditions such as anemia or leukopenia. If there are signs of Raynaud’s syndrome, a specialist in vascular diseases must be consulted. Because affected children and their parents often also suffer psychologically from Engelmann syndrome, accompanying therapeutic advice should be sought.
Treatment and therapy
Engelmann syndrome is treated with corticosteroids. These lead to normalization of the various abnormalities, but also trigger short stature and other accompanying symptoms. In addition, there is a risk of Cushing’s disease. This syndrome results from an increased administration of certain drugs and leads to muscle weakness, truncal obesity and various other symptoms. Apart from the administration of cortisone, no other treatment options are known. However, it is possible to treat existing bone damage by surgery. Physiotherapy can also contribute to recovery, but in normal cases existing bone damage cannot be completely reversed.
Outlook and prognosis
In Engelmann syndrome, the prognosis is not particularly good because of the progressive nature of the disease. The outlook is somewhat better for the weaker variant of Engelmann syndrome, known as ribbing syndrome. The consequences of the osteosclerosis that has occurred weigh heavily on those affected. The generalized bone hypertrophy leads to increasing bone hardening. This in turn results in a lack of flexibility and resilience of the bones. The genetically caused consequences of the disease cannot be reversed. Those affected must learn to live with severe pain, restricted mobility, muscle weakness and general fatigability. The outlook is better if the affected person is a carrier of the mutated gene but does not himself suffer from Engelmann syndrome.However, he then becomes the carrier of the genetic defect to his offspring. Since the consequences of the disease manifest themselves already in childhood, there is hardly anything that can be done to counteract the progression of the disease. The complicating factor in Engelmann syndrome is the frequent occurrence of concomitant vascular diseases. The prognosis is improved by the early administration of corticosteroids. However, this may come at the price of reduced growth. In addition, a pituitary tumor (Cushing’s disease) may develop. The benefits and risks of such symptomatic treatment approaches must therefore be weighed carefully. Since the disease progresses despite all measures, the outlook for those affected is not too rosy. Medical science currently has few means available to alleviate the symptoms of Engelmann syndrome.
Prevention
So far, Engelmann syndrome cannot be prevented because it is a disorder of genes. The only way to prevent it is to diagnose a corresponding mutation in the fetus. Then appropriate measures, such as the administration of medication, can be initiated at an early stage, thus reducing long-term damage to a minimum. Apart from that, affected persons can at least prevent accompanying symptoms to the greatest possible extent by physiotherapy, sport and taking the medicines mentioned.
Aftercare
Aftercare measures are very limited in Engelmann syndrome. Since there may be no complete cure in this case, the main focus of treatment is early diagnosis and early initiation of treatment. This is the only way to prevent further complications and discomfort. In most cases, patients are dependent on taking medication and steroids. Rarely do serious complications occur, but those affected should always ensure that they take their medication correctly and regularly. The doctor’s instructions should also be followed, and in case of doubt or other ambiguities, a doctor should also be consulted. In many cases, patients are also dependent on rehabilitation measures such as physiotherapy. This should be carried out regularly. Many exercises from physiotherapy can also be performed at home. This may speed up the recovery of the patient. Patients are usually also dependent on regular examinations by a doctor. This is the only way to prevent further complications. Whether Engelmann syndrome leads to a reduced life expectancy cannot be universally predicted. In some cases, contact with others affected by the syndrome may also be useful.
Here’s what you can do yourself
In order for the patient to maintain his or her freedom of movement for as long as possible, specific movements and training should be carried out. These can be applied independently and on one’s own responsibility several times a day. Small exercise sessions within everyday routines and processes are often sufficient to strengthen the organism. Overload and overexertion are to be avoided as a matter of principle. All movements should be adapted to the current physical possibilities. Since these change in the course of the disease, they must be regularly adapted to the conditions. The patient should not overstrain himself at any time or expose himself to too great a risk of falling. One-sided loads, incorrect postures or rigid body positions should be avoided in all movement sequences. The skeletal system needs balancing positions and also an adequate supply of warmth. If the patient has impaired vision or is blind, the daily routine and spatial conditions should be adapted to his or her needs. The risk of accidents should be minimized and daily help is needed to perform various tasks. For mental strengthening, discussions with psychologists, relatives and friends can be important. In addition, many patients find participation in self-help groups pleasant and beneficial. The exchange with other sufferers offers mutual support. Experiences can be discussed and tips for dealing with the disease in everyday life can be imparted.