Patients with the Carney complex suffer from cardiovascular symptoms from hormonal disorders and myxomas. The disease is a mutation-related hereditary disease. Treatment is symptomatic supportive and primarily includes the surgical removal or monitoring of myxomas and other tumors.
What is a Carney Complex?
So-called myxomas are benign tumors made of unformed connective tissue and slimy gelatinous substance. The ulcers are often part of a superordinate syndrome and can, for example, represent the so-called Carney complex. This is a combination of symptoms that, in addition to multiple myxomas, causes hormonal regulation disorders and pigment spots.
Some patients also suffer from malignant neoplasms. The first description of the syndrome is numbered in 1985. The US pathologist J. Aiden Carney is considered to be the first to describe it. The disease is also referred to in the medical literature as myxoma syndrome or Carney syndrome.
A precise distribution or frequency has not yet been determined for the Carney complex. The symptoms of the individual patients are manifold, which makes the diagnosis considerably more difficult. Especially in countries without a scientific infrastructure, the syndrome is often not diagnosed or diagnosed incorrectly.
The cause of the Carney complex lies in the genes. The disease is apparently a hereditary disease, in the context of which familial accumulation has been reported. The Carney complex is inherited in an autosomal dominant mode of inheritance.
Only in the rarest cases have incomplete penetrance or phenotypic variability in the same family been reported. The primary cause of each symptom is a genetic mutation. So far, two different gene loci for the complex have been documented. A defect in these loci causes the symptoms of the syndrome.
The defects identified so far are on chromosome 2p16 and chromosome 17q22 to 24. In the latter chromosome, the genetic and mutation-related defect relates to a tumor suppressor gene that codes for a regulatory subunit of the cAMP-dependent protein kinase A within the DNA. Because of the genetic mutation, protein childase A in patients with the Carney complex does not have the physiologically planned structure and therefore cannot adequately suppress tissue growth.
Symptoms, ailments & signs
Patients with Carney Complex suffer from various symptoms of the heart, skin, and hormonal balance. Symptoms of the skin include the formation of spots in the early stages, which can also affect the mucous membrane. In addition, many of the patients manifold bear birthmarks and moles and pigmented spots. Myxomas later form.
These symptoms are associated with disorders of the heart. In addition to myxomas in the heart tissue, there is often heart failure. Embolism as well as edema, shortness of breath or heart attack can result. Recurring inflammation of the heart are also typical symptoms. The same applies to cardiovascular complaints such as poor performance.
Since there are also hormonal disorders, the typical picture of Cushing’s disease can develop. Also acromegaly and gigantism are common symptoms. Some patients also have benign and malignant tumors. These include tumor variants such as Sertoli cell tumors, schwannomas and cysts.
Diagnosis is difficult in patients with Carney’s complex. Since symptoms can vary significantly from case to case and are similar to many other diseases, those affected are often diagnosed with the complex late or not at all. A catalog of clinical and genetic criteria was proposed for diagnosis.
A careful examination of the patient, including the clinical examination of relatives, forms the diagnostic framework. If the patient suffers from at least one characteristic symptom and there is also an apparent familial cluster, the diagnosis can be made on the Carney complex. If no familial involvement can be established, the patient should have at least two typical symptoms for the diagnosis to be made.
In most cases, the Carney complex leads to disorders of the hormonal balance and also to malformations and disorders of the heart. Most patients also experience spotting, which increases the number of birthmarks and moles. This increased number of pigment spots does not in itself constitute a complication if they are monitored and, if necessary, treated.
Serious complications can arise primarily from the malformations of the heart. The Carney complex can be responsible for a heart attack or heart failure. Those affected often suffer from shortness of breath, which can also lead to panic attacks. It is not uncommon for different tumors to appear. Depending on their size and the region, these can lead to severe or life-threatening symptoms.
Further complications can arise due to a late diagnosis of the Carney complex, as the symptoms are similar to other diseases and ailments. Treatment itself can only limit symptoms. The affected person still has to undergo examinations after the treatment.
In most cases, surgery is necessary to remove the malformations or tumors. The parents of the affected child can also suffer from psychological complaints and depression.
When should you go to the doctor?
If stains keep forming on the skin and mucous membranes, the Carney complex may be present. However, the disease can also express itself through a variety of other symptoms that do not necessarily occur in every person affected. A specific diagnosis is therefore difficult. It is advisable to go to a doctor with unusual symptoms that cannot be traced back to any other cause and have them clarified.
In particular, serious symptoms such as shortness of breath, cysts, giant stature or signs of heart failure should be investigated promptly. People who have a family history of Carney Complex should pay particular attention to any warning signs. In the best case scenario, a comprehensive diagnosis is carried out in childhood and adolescence.
If there are serious complications such as shortness of breath or even a heart attack, an emergency doctor must be called. Since such a difficult course can never be completely ruled out, both those affected and their parents and relatives should seek psychological help.
Treatment & Therapy
No causal treatment is available for patients with Carney Complex. A causal therapy would have to resolve the cause. This procedure turns out to be difficult with genetic symptom complexes and in this case would have to correspond to an equally genetic approach. Causal therapies could therefore only open up gene therapy.
Despite medical progress, gene therapy has not yet reached the clinical phase. Since the approaches represent a focus of modern medical research, causal treatment options for genetic syndromes cannot be completely ruled out in the coming decades. So far, however, patients with syndromes such as the Carney complex have been treated purely symptomatically and supportively.
The supportive steps include, for example, the genetic analysis of index cases. In addition, both patients and relatives with a genetic predisposition are examined at regular intervals in order to identify possible symptoms of the disease at an early stage. The examinations are indicated at least once a year.
Ideally, the annual check-ups begin in early childhood. Any myxomas of the heart are treated invasively. Surgical removal can also be carried out for myxomas in other parts of the body. All other symptoms of the complex are not treated according to strict rules. The location of the tumor, its size, the overall clinical picture of the patient and the suspicion of malignancy influence the treating physicians in the choice of a type of treatment.
In addition to observation, invasive surgery or conservative drug treatment approaches are possible treatment options. If Cushing’s syndrome occurs, it is often treated with bilateral adrenalectomy.
Outlook & forecast
The Carney Complex cannot be completely cured because it is a genetic condition for which causal therapy is not possible.
Treatment is symptomatic and depends on the severity of the tumors. The further course also depends very much on when the tumors are diagnosed and removed. Patients therefore need regular examinations and long-term treatment to identify and remove new tumors. In many cases, the Carney Complex also reduces and restricts the life expectancy of the patient.
Often the disease also leads to psychological complaints, which can occur not only in the patient, but also in the parents and relatives. Parents should also undergo genetic testing and counseling to avoid passing the disease on.
If the symptoms of the complex have permanently damaged the heart, no therapy can take place and the affected person dies of heart failure or a stroke. In the case of benign tumors, treatment does not need to be immediate. However, these can also lead to complaints that limit the quality of life of the person affected.
So far, there are hardly any preventive measures available for the Carney complex. The only preventive measure that can be considered is genetic counseling in the family planning phase. With a corresponding predisposition, couples can decide against having their own child and instead opting for adoption.
The causes of the Carney Complex cannot be cured. Therefore, aftercare is of great importance. It should take place at least once a year. After a disease has been diagnosed with the help of family and personal anamnesis, doctors arrange a series of checks.
These include, above all, biochemical and echocardiographic examinations. In addition, computed tomography and sonography can prove to be useful. If the known symptoms occur, you should definitely consult a doctor. This is the only way to prevent serious complications. There are a number of ways you can do to relieve the signs.
It is not uncommon for patients to have to take medication. The agreed intake must be strictly adhered to. Sometimes the tumor also gives rise to local pain. Massage can then help. Follow-up care also extends to existing children. Since the hereditary disease is inherited, you should see your son or daughter with a specialist at an early stage.
The Carney complex, like many tumor diseases, represents a psychological burden. The uncertain outcome makes everyday life seem less than worth living. If the head suffers, the doctor may prescribe psychotherapy. Worries and fears can be addressed as part of the aftercare.
You can do that yourself
The Carney complex cannot yet be treated causally. Medical therapy is limited to alleviating the patient’s individual symptoms and complaints. The treatment can be supported by targeted self-help measures and an open approach to the disease and its complications.
Any heart problems must be treated surgically. The patient can have a positive influence on the course of the operation by following the doctor’s instructions and taking care of himself after the operation.
Depending on where the tumor is located and what symptoms it is causing, further self-help measures can be taken. Tumor-related edema can, under certain circumstances, be treated with massages or acupuncture, in addition to specialist treatment. Cysts and schwannomas can be relieved using various natural remedies such as marigold ointment.
In addition, both the patient and their relatives must be examined at regular intervals in order to identify any symptoms of the hereditary disease at an early stage. Affected people should have themselves examined at least once a year. Ideally, the first examinations should be carried out in childhood. Parents who have the Carney Complex themselves or have someone in their family should watch out for possible signs and see the child to a specialist early on.