Proteus syndrome is characterized by genetically determined giant stature with vascular malformations and tumor risk. The cause is thought to be a mutation in the genetic material, although this has not yet been determined. Because there is no curative therapeutic option, patients have been treated primarily in a supportive and symptomatic manner.
What is Proteus syndrome?
Proteus syndrome is understood by medical science to be a hereditary disease that initially manifests primarily in giant stature. As the disease progresses, tumors of individually varying extent are added to the clinical picture. It was first described in the 20th century by the British Michael Cohen, who initially did not name the symptom complex. It was not until years later that the German pediatrician Hans-Rudolf Wiedemann coined the term Proteus syndrome in connection with the disease, which is based on the Greek sea god Proteus. According to legends, Proteus changes shape, alluding to the wide range of possible symptoms of the disease. One spectacular case of the disease was Joseph Merrick, a human elephant. Since the discovery of the disease, about 200 cases have been documented. Thus, Proteus syndrome corresponds to an extremely rare inherited disease.
Causes
Proteus syndrome has genetic causes, making it one of the hereditary diseases. The exact cause remains controversial. Research on its development has not yet reached a conclusive conclusion. Many research results point to a connection with the PTEN gene on chromosome 10, while others point to a cause in chromosome 16. Just as often, however, scientists have expressed doubts about the involvement of the PTEN gene. Some researchers propose a somatic mutation as the cause of the disease. In 2011, a study pointed to a point mutation of the AKT1 gene that causes a genetic mosaic to form, triggering the overgrowth of different body parts. According to current findings, the syndrome is even rarer than previously thought. In many cases, the symptom complex has probably been misdiagnosed, as diagnosis is a difficult undertaking because of the range of the disease.
Symptoms, complaints, and signs
Tall stature is the leading symptom of Proteus syndrome. In addition to the skin and bones, it can affect the muscles, adipose tissue, and blood and lymph vessels. In most cases, patients are still asymptomatic at birth. In the course, tumors often develop in addition to the large growth, and their severity and localization vary extremely. Disease is associated primarily with an increased risk of testicular tumors, unilateral ovarian cystadenomas, adenomas, and meningiomas. The skull, extremities, and soles of the feet are particularly often affected by the tumors. Deep venous thrombosis or pulmonary embolism may occur. Vascular malformations are also associated with the syndrome. The deformed extremities have tremendous weight, causing muscle and joint pain. The disease is not associated with intelligence deficits or learning disabilities, but the large stature can cause secondary damage to the nervous system, impairing cognitive abilities.
Diagnosis and disease progression
Proteus syndrome is characterized by relatively specific symptoms. Nevertheless, the symptom complex is difficult to diagnose without doubt. The genetic cause has not been clearly established to date. Therefore, not even molecular genetic tests can guarantee a definite diagnosis. Therefore, the clinical symptoms are the only clue for the physician to make a diagnosis. However, since giant growth symptoms with concomitant tumors do not necessarily have to be associated with Proteus syndrome, the risk of misdiagnosis is high. The course of the disease is individual. However, life expectancy is considered reduced because of the tumors and the distressing tissue growths. In addition, because the social experiences of those affected are usually negatively affected by the disease, the syndrome is considered to have a psychologically difficult course.
Complications
As a result of Proteus syndrome, affected individuals primarily suffer from large stature. This can lead to teasing or bullying, especially in children. Furthermore, the vessels of the affected person are also affected by various malformations. Due to these complaints, Proteus syndrome can also significantly increase the risk of tumor formation, so that patients may also suffer from a reduced life expectancy.Furthermore, thrombosis in the veins or pulmonary embolism can also develop, which considerably reduce the patient’s quality of life. Most of those affected also suffer from fatigue and pain in the muscles and joints. In severe cases, this can also lead to restricted movement, so that those affected by Proteus syndrome are dependent on the help of other people in their daily lives. However, the intelligence of patients is not affected by Proteus syndrome. However, the patient’s cognitive abilities may potentially be negatively affected due to the giant growth. There is no causal treatment for Proteus syndrome. Therapy is aimed at minimizing the symptoms. In many cases, psychological care is also necessary. However, particular complications usually do not occur.
When should one go to the doctor?
Proteus syndrome must always be examined and treated by a doctor. Since it is a genetic disease, a complete cure is usually not possible. The symptoms are only treated symptomatically and the affected person is usually dependent on lifelong therapy. A doctor should be consulted for Proteus syndrome if the affected person suffers from giant growths or various tumors. The earlier the tumors are detected and treated, the higher the likelihood of a positive course of the disease. Likewise, lung problems may also indicate Proteus syndrome and should be examined by a physician. Affected individuals usually suffer from pain in the joints and muscles and cannot participate in their daily lives easily. Treatment is therefore essential in Proteus syndrome. As a rule, Proteus syndrome is diagnosed by a general practitioner or in a hospital. However, treatment depends on the exact symptoms and their severity. In some cases, the syndrome also limits the patient’s life expectancy.
Treatment and therapy
Causative or curative treatment options do not exist in the case of Proteus syndrome, as the cause has not even been determined to date. Supportive therapy has been the focus of treatment to date. This type of treatment is primarily intended to improve the quality of life of those affected. With this purpose, mainly psychotherapeutic support takes place. It helps the affected person and the relatives to come to terms with the disease and, if necessary, treats the negative social experiences and resulting social deficits. Surgical interventions and symptomatic treatment paths are also within the realm of possibility in the case of tumors and vascular malformations. Studies are currently looking for agents that slow progression. According to a case report, the active ingredient rapamycin could be considered as a therapeutic agent. The agent showed a positive effect on the course of the disease, slowing down the progressive symptoms and thus increasing life expectancy. However, since a genetic component is undoubtedly involved in the patients’ gigantism, it cannot be completely halted by drug intervention. Because of the few cases so far proven beyond doubt, research into therapeutics is still in its infancy. It is possible that gene therapy approaches will be a therapeutic option for Proteus syndrome in the future. However, gene therapy treatments are also only dreams of the future so far.
Prevention
The exact cause of Proteus syndrome remains unclear. Therefore, there are no preventive measures to date. If a mutation is responsible for the syndrome, then environmental toxins may play a role in connection with the onset of the disease. Even if this is indeed the case, it will be difficult to prevent the syndrome. Completely avoiding contact with any environmental toxins is largely impossible.
Aftercare
There are usually very few and also very limited measures of direct aftercare available to the affected person with Proteus syndrome. For this reason, the affected person should see a physician early on to prevent the occurrence of other complications and symptoms. Self-healing is usually not possible with Proteus syndrome, so a doctor should be contacted at the first signs and symptoms of the disease.Since this disease is also a genetic disease, genetic testing and counseling should definitely be performed in case of a further desire to have children, in order to prevent the recurrence of the disease in the children. Most of the affected people depend on the measures of physiotherapy, and in many cases psychological therapy is necessary. In general, loving care and support from one’s own family has a very positive effect on the further course of the disease. Contact with others affected by the disease can also be very useful. In some cases, this disease also limits the life expectancy of the affected person.
Here’s what you can do yourself
Since Proteus syndrome is a hereditary disease, self-help measures must be initiated immediately after birth and usually continued throughout the life of the affected person. Affected persons have the opportunity to prevent the individual complaints through a healthy lifestyle with plenty of exercise, a good diet and sufficient sleep. This must be accompanied by regular visits to the doctor so that any tumors can be detected and removed at an early stage. After a surgical procedure, the patient must initially take it easy. In consultation with the doctor, various products can be used for wound care. In addition, the doctor will recommend strict personal hygiene and avoidance of heavy physical activity. Which measures are indicated in detail depends on the type and severity of the symptoms. For example, only a doctor can help with a pulmonary embolism, while muscle and joint pain and comparable accompanying symptoms can often be alleviated by physiotherapy. Large stature can also be alleviated by the targeted use of aids and orthopedic measures. Finally, it must be ensured that no further recurrences develop. This can be achieved by keeping a detailed diary of complaints, noting any unusual phenomena or complaints. Based on the complaint diary, the responsible physician can initiate further measures for treatment and thus positively influence the healing process.