Patients with Carney complex are conductively symptomatic of hormonal imbalances and myxomas. The disease is a mutation-related inherited disorder. Treatment is supportive symptomatic and primarily involves surgical removal or monitoring of myxomas and other tumors.
What is a Carney complex?
So-called myxomas are benign tumors composed of unformed connective tissue and mucinous gelatinous substance. The tumors are often part of an overarching syndrome and may represent, for example, what is known as a Carney complex. This is a combination of symptoms that causes hormonal regulatory disorders and pigmentary mottling in addition to multiple myxomas. Some patients additionally suffer from malignant neoplasms. The syndrome was first described in 1985. The US pathologist J. Aiden Carney is considered to be the first describer. The disease is also referred to as myxoma syndrome or Carney syndrome in the medical literature. An exact 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 is diagnosed incorrectly.
Causes
The cause of Carney complex is in the genes. The condition appears to be a hereditary disease, and familial clustering has been reported in its context. Inheritance of the Carney complex occurs in the autosomal dominant mode of inheritance. Only in rare cases has incomplete penetrance or phenotypic variability been reported in the same family. The primary cause of each symptom is a genetic mutation. To date, two different gene loci have been documented for the complex. A defect in these loci causes the symptoms of the syndrome. The defects identified to date are located on chromosome 2p16 and chromosome 17q22 to 24. In the latter chromosome, the genetic and mutational defect relates to a tumor suppressor gene that encodes a regulatory subunit of cAMP-dependent protein kinase A within the DNA. Because of the genetic mutation, protein kinase A from patients with Carney complex does not carry the physiologically designed structure and therefore cannot adequately suppress tissue proliferation.
Symptoms, complaints, and signs
Patients with Carney complex suffer from various cardiac, skin, and hormonal symptoms. Skin symptoms include mottling in the early stages, which may also affect the mucosa. In addition, many of the patients bear multiple moles as well as moles and pigmented spots. Later, myxomas are formed. These symptoms are associated with disorders of the heart. Besides myxomas in the heart tissue, there is often heart failure. Embolism as well as edema, shortness of breath or heart attack can be the result. Repeated inflammations in the area of the heart are also typical symptoms. The same applies to cardiovascular complaints such as a drop in performance. Since hormonal disorders are also present, the typical picture of Cushing’s disease can develop. Acromegaly and gigantism are also common symptoms. Some patients also suffer from benign and malignant tumors. These include tumor variants such as Sertoli cell tumors, schwannomas, and cysts.
Diagnosis
Diagnosis is difficult in patients with Carney complex. Because symptoms can vary significantly from case to case and resemble many other disorders, affected individuals are often diagnosed with the complex late or not at all. A catalog of clinical and genetic criteria has been proposed for diagnosis. The diagnostic framework is formed by the most careful examination of the patient possible, including clinical examination of relatives. If the patient suffers from at least one characteristic symptom and there is also apparent familial clustering, the diagnosis can be made for Carney complex. If no familial involvement can be identified, the patient should have at least two characteristic symptoms to make the diagnosis.
Complications
Carney complex causes hormonal imbalances in most cases and also malformations and disorders of the heart. Most patients also suffer from mottling, so there is an increased number of moles and liver spots.This increased number of pigment spots is not itself a complication if monitored and treated if necessary. Serious complications can occur mainly due to the malformations of the heart. In this case, the Carney complex can be responsible for a heart attack or for heart failure. It is not uncommon for those affected to suffer from shortness of breath, and panic attacks may also occur. It is also not uncommon for various tumors to occur. Depending on their size and the region, these can lead to severe or life-threatening symptoms. Further complications can arise due to delayed diagnosis of Carney complex, as the symptoms resemble other diseases and conditions. Treatment itself can only limit the symptoms. In this case, 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 may also suffer from psychological discomfort and depression in the process.
When should you go to the doctor?
If spots repeatedly form on the skin and mucous membranes, Carney complex may be present. However, the condition can also manifest itself with a variety of other symptoms that do not necessarily occur in every affected person. A specific diagnosis is therefore difficult. It is advisable to go to a doctor with unusual symptoms that cannot be attributed to any other cause and have them clarified. In particular, serious symptoms such as shortness of breath, cysts, giant growths or signs of heart failure should be examined 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 made during childhood and adolescence. If there are serious complications such as shortness of breath or even a heart attack, an emergency physician must be called. Since such a severe course can never be completely ruled out, both those affected and their parents and relatives should seek psychological help.
Treatment and therapy
No causal treatment is available for patients with Carney complex. Causal therapy would have to resolve the cause. This approach is difficult in genetic symptom complexes and, in this case, would have to correspond to an equally genetic approach. Causal therapies could thus be opened up exclusively by gene therapy. Despite medical progress, gene therapy has not yet reached the clinical phase. However, as the approaches represent a focus of modern medical research, causal treatment options for genetic syndromes are not completely ruled out in the coming decades. To date, however, patients with syndromes such as Carney complex have been treated purely symptomatically and supportively. The supportive steps include, for example, genetic analysis of index cases. In addition, both patients and their relatives with genetic predisposition are examined at regular intervals to detect possible symptoms of the disease at an early stage. Examinations are indicated at least once a year. Ideally, annual checkups should begin in early childhood. Any myxomas of the heart are treated invasively. Surgical removal may also be performed for myxomas of other body regions. All other symptoms of the complex are not treated according to fixed 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 treatment modality. In addition to observation, invasive surgery or conservative drug treatment approaches may be considered as a treatment path. Cushing’s syndrome, if it occurs, is often treated with bilateral adrenalectomy.
Outlook and prognosis
Carney complex cannot be completely cured because it is a genetic disorder for which causative therapy is not possible. Treatment is symptomatic and depends on the severity of the tumors. The further course of the disease also depends very much on when the tumors are diagnosed and removed. Patients are therefore dependent on regular examinations and ongoing treatment to detect and remove new tumors. In many cases, the Carney complex also reduces and limits the patient’s life expectancy.Often, the disease also leads to psychological complaints, which can occur not only in the patient, but also in the parents and relatives. The parents should also undergo genetic testing and counseling in order not to pass on the disease. If the symptoms of the complex have caused lasting damage to the heart, no therapy can take place and the affected person will die of heart failure or stroke. In the case of benign tumors, treatment need not be immediate. However, these can also lead to discomfort that limits the quality of life of the affected person.
Prevention
To date, few preventive measures are available for Carney complex. The only preventive measure that can be considered is genetic counseling during the family planning phase. If predisposed, couples may decide against having their own child and instead opt for adoption.
Follow-up
The causes of Carney complex cannot be cured. Therefore, follow-up care is of great importance. It should take place at least once a year. After a disease is diagnosed with the help of family and personal history, physicians arrange a series of checks. These mainly include biochemical and echocardiographic examinations. In addition, computed tomography and sonography may prove useful. If the known symptoms occur, it is essential to consult a physician. This is the only way to prevent serious complications. There are a number of options for alleviating the symptoms. It is not uncommon for patients to have to take medication. It is essential to take the medication as agreed. Sometimes the tumor also causes local pain. Massage can then provide relief. Follow-up care also extends to existing children. Since the hereditary disease is inherited, one should present one’s son or daughter to a specialist at an early stage. The Carney complex, like many tumor diseases, represents an emotional burden. The uncertain outcome makes everyday life seem less worth living. If the head suffers, the doctor may prescribe psychotherapy. Worries and fears can be addressed during follow-up care.
Here’s what you can do yourself
Carney complex cannot yet be treated causally. Medical therapy is limited to alleviating the patient’s individual symptoms and complaints. Treatment can be supported by specific self-help measures and an open approach to the disease and its complications. Any cardiac complaints must be treated surgically. The patient can positively influence the course of the procedure by following the doctor’s instructions and taking it easy after the operation. Depending on where the tumor is located and what complaints it causes, further self-help measures can be taken. For example, tumor-related edema may be treated with massage or acupuncture to accompany specialist treatment. Cysts and schwannomas can be alleviated using various natural remedies such as calendula ointment. In addition, both patients and their relatives must be examined at regular intervals to detect any symptoms of the hereditary disease at an early stage. Affected individuals should be examined at least once a year. Ideally, the first examinations should take place in childhood. Parents who themselves suffer from Carney complex or have affected individuals in their family should be alert to possible signs and present the child to a specialist early on.
