Patients with echondromatosis suffer from multiple tumors of the bones that cause growth defects, fractures, and deformities. A genetic mutation appears to be responsible for the disease. Treatment is limited to correction of deformities, fracture treatment, and degeneration monitoring of the individual tumors.
What is echondromatosis?
Enchondromas are cartilaginous tumors that arise primarily from the diaphyses of the phalanges. In some cases, the tumors also occur in the metaphyses of long bones. Scientists now believe that epiphyseal joint remnants in the metaphyses give rise to enchondromas. For a long time, the tumors remain asymptomatic. As they progress, they become noticeable through pain and unexplained fractures. In certain cases, echondromas are present as part of a larger disease context. This is the case, for example, with echondromatosis. In this disease of the skeleton, multiple echondromas occur. Enchondromatosis is a rather rare disease, the prevalence of which is estimated at about one case in 100,000 people. The disease usually affects children. The first symptoms usually manifest clinically within the first ten years of life. Due to the limited number of cases, the research situation in the context of echondromatosis is relatively poor. Thus, the disease is not conclusively understood to date.
Causes
The etiology and pathogenesis of echondromatosis are not conclusively understood. However, although the etiology is not conclusively understood, some apparent causative backgrounds are now known. Genetic mutations have been detected in a large number of documented cases. These mutations in the genetic material were localized in the IDH1 and IDH2 genes, which code for isocitrate dehydrogenase 1 and 2 within the DNA. These subtances are enzymes that are active as catalysts like all other enzymes. Catalysts are biochemical reaction accelerators. In the case of the above enzymes, catalysis refers to the synthesis of α-ketoglutarate, a product of the citrate cycle. The disease-causing mutations are somatic alterations. Since no familial clustering has been documented for the gene mutations to date, the mutations are probably not hereditary events. Therefore, enchondromatosis is not considered by scientists to be a genetic disease.
Symptoms, complaints, and signs
In principle, enchondromatosis is the multiple occurrence of single chondromas, enchondromas, and juxtacortical chondromas. Most commonly, the tumors occur near the growth plate in the epiphyses, or strike the metaphyses of the long tubular bones and distal foot and hand bones. The growth of the tumors usually follows the growth phases of the infantile skeleton. With the end of the growth in length, the tumors usually also stop growing. In most cases, the bone changes initially remain painless. However, growth impairment occurs, which may be associated with deformities and fractures. In addition to malpositions, further complications may occur. The most serious complication presents with malignant degeneration of the skeletal lesions. The risk for later chondrosarcomas is about 25 percent for patients. Medical literature also indicates an increased risk in patients for neoplasms such as astrocytomas, granulosa cell tumors and pancreatic carcinomas.
Diagnosis and progression
The physician usually makes the diagnosis of echondromatosis on conventional radiographs. On these images, the affected portions of the skeleton show multiple enchondromas that appear as cystic distensions without marginal sclerosis. Depending on the age of the lesions, calcifications may be present. In addition, fractures in the affected portions of the skeleton may be an important clue. If malignant degeneration is already suspected at the time of diagnosis, this suspicion must be further clarified. This requires a biopsy, which allows histopathological examination. The prognosis for patients with echondromatosis depends primarily on any degeneration that may occur and its timely identification. The earlier the onset of the disease, the more severe the course often is.
When should you go to the doctor?
If tumor disease is suspected, it is best to consult a physician immediately. In echondromatosis, there is usually a multiple occurrence of tumors that extend over the entire body. Accordingly, the possible warning signs are manifold – such as increasing pain, visible nodules or a general feeling of illness, which usually increases rapidly. As the disease progresses, complaints of the internal organs, especially the pancreas, point to echondromatosis. If unusual deformities of the foot and hand bones are noticed, echondromatosis may already be advanced. At the latest then a doctor must be consulted immediately. He can determine the disease with the help of conventional tube images and initiate treatment directly. In general, the earlier the disease is detected, the better the prospects for a complete recovery. It is therefore advisable to talk to a doctor at the first signs of echondromatosis. Anyone who already has cases of genetic mutations in the family should have a screening examination. Somatic changes following a serious illness should also be clarified immediately.
Treatment and therapy
A causative treatment option does not exist for patients with enchondromatosis. In the future, genetic therapeutic approaches may provide relief, but these approaches have not yet reached the clinical phase. Basically, echondromatosis is mainly treated with supportive measures such as control examinations. Not every echondroma needs to be examined histologically. However, if one of the tumors turns out to be suspicious during the control examination, histology must be performed. Possible degenerations can thus be detected at an early stage and treated if necessary. In addition to regular check-ups, patients with echondromatosis basically only receive symptomatic treatment in the event of complications. Pathological fractures as well as pain and growth disorders require surgical intervention. In the case of malalignment, for example, realignment surgery is indicated in order to prevent incorrect loading and associated secondary complaints. Realignment operations are usually relatively complex operations. The need for repeated operations is conceivable to correct malpositions. Moreover, after such operations, consistent physiotherapy becomes an absolutely necessary treatment step. If the lesions or the malposition corrections cause more severe pain, short-term treatment with pain-relieving medications is an option.
Outlook and prognosis
A direct prediction of the outlook and prognosis in echondromatosis cannot be given, because the course of the disease depends very much on the extent and type of tumors. However, if there is no treatment for echondromatosis, the life expectancy of the patient is usually also reduced, since the spread of the tumors usually leads to the death of the patient. Since the malpositions are also not corrected, the life of the affected person is significantly more difficult, so that he suffers from movement restrictions and a reduced quality of life. The treatment of echondromatosis can resolve most malpositions relatively well. As a result, the affected person can move freely again and is usually no longer dependent on the help of other people. However, further physiotherapy measures are still necessary to restore full movement. Furthermore, the affected person is also dependent on regular examinations of the tumors in order to prevent metastasis. This is the only way to increase life expectancy. Even with successful treatment of echondromatosis, many affected individuals also suffer from psychological discomfort and require psychological help.
Prevention
To date, two different mutations have been discovered that appear to be related to me pathogenesis of echondromatosis. Which external factors are responsible for the mutations remains unclear so far. Therefore, no preventive measures are available for the bone disease at the present time. Preventive measures are not expected until the pathogenesis and etiology are finally clarified.
Follow-up
In most cases, no specific or direct measures of aftercare are available to the affected individual with echondromatosis. Early diagnosis is crucial in this regard.This can prevent further complications or even a further worsening of the symptoms. As a rule, echondromatosis cannot heal itself. In order to detect further tumors in time, patients are dependent on regular examinations by a physician. Only when further tumors appear is a new treatment necessary, so there are usually no follow-up measures. The malpositions and the tumors are removed by surgical intervention. After such an operation, the patient should in any case rest and take care of the body. In most cases, accompanying physiotherapy is necessary. Patients can perform many exercises from such a therapy at home and thus accelerate the healing process. It may also be necessary to take medication, although the doctor’s instructions must always be followed. Whether echondromatosis reduces life expectancy cannot be universally predicted.
Here’s what you can do yourself
At the moment, conventional medicine is only able to treat in a symptom-oriented manner. Due to the severity of the impairment of the child’s growth, specialist treatment must be provided in this case. Self-treatment alone is not possible. Parents can and must be an emotional support for their children and only have the possibility to alleviate symptoms by a few measures. Affected children have to pass several operations until the end of the growth phase. Anesthesia and hospitalization weaken the immune system. Self-treatment should therefore focus on strengthening the immune system. Through a vital substance-rich and balanced diet, regular exercise within the bounds of physical possibilities, and loving integration into family life. Occupational therapy and massages can be additionally attended by parents and firmly integrated into the child’s daily routine. Physiotherapy exercises are a crucial part of the treatment. They ensure the patient’s mobility. For acute pain, over-the-counter medications such as ibuprofen or paracetamol can be administered. Preparations of snowball and valerian provide a natural pain reliever. Acupuncture and acupressure can also be used to relieve pain as well as anxiety. In the case of older children, the psychological burden should not be underestimated. Because of the disability, those affected often feel on the fringes of social groups. Visiting a psychotherapist or a self-help group could also be a way to help.
