Proteus syndrome is characterized by genetic giantism with vascular malformations and a risk of tumors. The cause is probably a mutation in the genetic material, which has not yet been determined in more detail. Because there is no curative treatment option, patients have so far been treated primarily supportively and symptomatically.
What is Proteus Syndrome?
Medicine understands Proteus syndrome to be a hereditary disease that initially manifests itself primarily in gigantic growth. In the further course, tumors with individually different extents are added to the clinical picture. The first description was in the 20th century by the British Michael Cohen, who initially did not name the symptom complex. See gradphysics for Methemoglobinemia in English.
Years later, the German pediatrician Hans-Rudolf Wiedemann coined the term Proteus syndrome, which is based on the Greek god of the sea, Proteus, in connection with the disease. According to legend, Proteus changes shape, alluding to the wide range of possible symptoms of the disease. A spectacular case of the disease was the elephant man Joseph Merrick. Around 200 cases have been documented since the disease was discovered. This means that Proteus syndrome is an extremely rare hereditary disease.
Proteus syndrome has genetic causes and is therefore one of the hereditary diseases. The exact cause remains controversial. Research into its origins has so far not come to any conclusive conclusions. Many research results point to a connection with the PTEN gene on chromosome 10. 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 suggest a somatic mutation as the cause of the condition. In 2011, a study pointed to a point mutation of the AKT1 gene, which creates a genetic mosaic and thus triggers the overgrowth of different parts of the body. According to current knowledge, the syndrome is even rarer than previously thought. In many cases, the symptom complex was probably misdiagnosed, since the diagnosis is difficult due to the breadth of the disease.
Symptoms, Ailments & Signs
Tall stature is the main symptom of Proteus syndrome. In addition to the skin and bones, it can affect the muscles, fatty tissue and the blood and lymphatic vessels. Most patients are asymptomatic at birth. In the course of the disease, tumors often develop in addition to the tall growth, the severity and location of which varies extremely.
Disease is mainly associated with an increased risk of testicular tumors, unilateral ovarian cystadenomas, adenomas and meningiomas. The skull, the extremities and the soles of the feet are particularly often affected by the tumors. Deep vein thrombosis or pulmonary embolism can occur. Vascular malformations are also associated with the syndrome.
The deformed extremities are extremely heavy, causing muscle and joint pain. The disease is not associated with intellectual disability or learning disabilities, but being tall can cause secondary damage to the nervous system, thereby impairing cognitive ability.
Diagnosis & course of disease
Proteus syndrome is characterized by relatively specific symptoms. Nevertheless, the symptom complex is difficult to diagnose with certainty. The genetic cause has not yet been clearly clarified. Therefore, not even molecular genetic tests can guarantee a reliable diagnosis. The clinical symptoms are therefore the only clue for the doctor to make a diagnosis.
However, since giant growth symptoms with simultaneous 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 to be reduced because of the tumors and the stressful tissue growth. Since the social experiences of those affected are usually negatively influenced by the disease, the syndrome also has a difficult psychological course.
Those affected by Proteus syndrome primarily suffer from tall stature. This can lead to teasing or bullying, especially in children. Furthermore, the vessels of the person affected are also affected by various malformations. Due to these symptoms, Proteus syndrome can also significantly increase the risk of tumor development, so that patients may also suffer from a reduced life expectancy.
Furthermore, thrombosis in the veins or a pulmonary embolism can form, which significantly reduces the patient’s quality of life. Most of those affected also suffer from fatigue and pain in the muscles and joints. In serious 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 everyday life.
However, the intelligence of the patients is not affected by the Proteus syndrome. However, the patient’s cognitive abilities may be negatively affected due to the gigantism. A causal treatment of Proteus syndrome is not possible. The therapy aims to minimize the symptoms. In many cases, psychological support is also necessary. As a rule, however, no particular complications arise.
When should you go to the doctor?
Proteus syndrome must always be examined and treated by a doctor. Since this 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 person affected suffers from gigantism or various tumors. The earlier the tumors are detected and treated, the higher the probability of a positive course of the disease.
Lung problems can also indicate Proteus syndrome and should be examined by a doctor. Those affected usually suffer from pain in the joints and muscles and cannot easily participate in their everyday life. Treatment is therefore essential for Proteus syndrome.
Proteus syndrome is usually diagnosed by a general practitioner or in a hospital. However, the treatment depends on the exact symptoms and their severity. In some cases, the syndrome also limits the life expectancy of the patient.
Treatment & Therapy
There are no causal or curative treatment options in the case of Proteus syndrome, since the cause has not yet been clarified. Supportive therapy has so far been the focus of treatment. This type of treatment is primarily intended to improve the quality of life of those affected. Psychotherapeutic care is primarily provided for this purpose. She helps those affected and their relatives to deal with the disease and, if necessary, treats the negative social experiences and the resulting social deficits.
Surgical interventions and symptomatic treatment methods are also feasible in the case of tumors and vascular malformations. Studies are currently looking for agents that slow the progression. According to a case report, the active ingredient rapamycin could be used as a therapeutic agent. The active ingredient shows a positive effect on the course of the disease by slowing down the progressing symptoms and thus increasing life expectancy.
Since there is undoubtedly a genetic component involved in the gigantism of patients, gigantism cannot be completely stopped by medical intervention. Because of the few cases that have been unequivocally proven so far, research into therapeutics is still in its infancy. Possibly gene therapy approaches will represent a therapy option for Proteus syndrome in the future. So far, however, gene therapy treatments are just a dream of the future.
Because Proteus syndrome remains unclear in its exact cause. So far there are no preventive measures. If a mutation is responsible for the syndrome, then environmental toxins may play a role in disease onset. Even if this is actually the case, the syndrome will be difficult to prevent. Completely avoiding contact with any environmental toxins is largely impossible.
Those affected with Proteus syndrome usually only have very few and only very limited measures of direct aftercare available. For this reason, the affected person should consult a doctor at an early stage so that other complications and symptoms do not occur. 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, a genetic examination and counseling should be carried out if you wish to have more children in order to prevent the disease from reoccurring in the children. Most of those affected are dependent on the measures of physiotherapy, with psychological therapy being necessary in many cases.
In general, the loving care and support of one’s own family has a very positive effect on the further course of the disease. Contact with other people affected by the disease can also be very useful. In some cases, this disease also limits the life expectancy of the sufferer.
You can do that yourself
Since Proteus syndrome is a hereditary disease, self-help measures must be initiated immediately after birth and usually continued throughout the patient’s life. Those affected have the opportunity to prevent the individual symptoms through a healthy lifestyle with plenty of exercise, a good diet and sufficient sleep.
In addition, regular visits to the doctor must be carried out so that any tumors can be detected and removed at an early stage. After an operation, the patient must rest first. In consultation with the doctor, various products for wound care can be used. Also, 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 complaints. Only a doctor can help with a pulmonary embolism, while muscle and joint pain and comparable accompanying symptoms can often be alleviated by physiotherapy.
The tallness can also be alleviated by the targeted use of aids and orthopedic measures. Finally, it must be ensured that no further recurrences form. This is achieved by keeping a detailed complaint diary in which unusual phenomena or complaints are noted. Based on the complaints diary, the responsible doctor can initiate further treatment measures and thus have a positive influence on the healing process.