Naxos disease is a hereditary disease that is inherited in an autosomal recessive manner. It is a very rare hereditary disease worldwide, but not on the Greek island of Naxos, where it is very common and where it was first described by a doctor. What is dangerous about Naxos disease is that it also leads to serious heart problems over the years and often to sudden cardiac death. It is therefore important to prevent this. In addition, there are various medications, the timely use of a cardioverter defibrillator and, if all of these measures no longer help, a heart transplant can also be considered.
What is Naxos disease?
Naxos disease was first described in 1986 by Nikos Protonotarios, a Greek cardiologist and a research group collaborating with him. On the island of Naxos, the probability of getting this hereditary disease is 1 in 1000. There are also more frequent cases of Naxos disease on other islands in the Aegean, in Turkey, Israel or Saudi Arabia. This hereditary disease is rather rare worldwide. See phonejust for Histamine Intolerance Meaning.
Even newborn babies with very woolly hair can tell that they could be suffering from Naxos disease. During the first year of life, strange-looking cornifications form on the soles of the feet and palms of the hands (so-called keratoses).
Naxos disease usually only becomes dangerous in young adulthood, when a so-called dilated cardiomyopathy develops, which can lead to severe cardiac arrhythmias, heart palpitations, overall right- sided heart failure and later to sudden cardiac death.
Causes
Impaired cell adhesion is at the root of the health problems associated with Naxos disease. The reason for this is a mutation of the JUP gene, which is located on chromosome 17 and there in turn on gene locus q21. This changes five amino acids, which in turn results in the truncation of 56 other amino acids from a domain.
This leads to incorrect folding of the corresponding gene product. This error, in turn, is recognized by the body’s own protein quality control and the gene product is then degraded in the proteasome. This is how cell death occurs. The dead cells are then replaced by adipose or fibrous tissue. This is increasingly life-threatening, especially when heart muscle cells are lost in this way.
Symptoms, Ailments & Signs
The first signs of Naxox disease can already be seen at the birth of an infant, namely in the particularly woolly hair. Complaints are not yet present at this age. The cell changes on the soles of the feet and palms of the hands, so-called keratoses, which are typical for Naxos disease, appear very early, namely in the course of the first year of life.
A white scale is typical for these keratoses. It is only in adulthood that dangerous heart problems occur. These include dizziness, tachycardia, severe circulatory disorders up to and including circulatory collapse, right-sided heart failure, which can then be determined by the doctor, and if it gets really bad, sudden cardiac death.
Diagnosis & course of disease
The diagnosis is easy to make even in infancy and possible because the external signs of Naxos disease are easy to recognize. A DNA analysis provides absolute certainty. Over the years, the typical heart problems then appear in adulthood, which become progressively worse and must be treated in order to improve the life expectancy of the patient.
Complications
In the worst case, Naxos disease can lead to the death of the patient. This usually occurs in the form of sudden cardiac death and can significantly reduce the life expectancy of the person affected. In emergencies, the patient’s life may still be saved with a defibrillator. In serious cases, however, a heart transplant is necessary so that the patient can continue to survive.
As a rule, the patients suffer from skin flaking in the area of the hands. Sometimes it comes to heart palpitations and dizziness. People with this disease feel weak and generally ill, and also suffer from reduced resilience. Cardiovascular collapse can also occur with Naxos disease, leading to loss of consciousness. Further, Naxos disease eventually leads to complete heart failure leading to the death of the patient.
Treatment of Naxos disease is carried out with the help of medicines. In severe cases, a heart transplant may be necessary. Complications can occur during the operation itself. As a rule, the life expectancy of the affected person is significantly reduced by Naxos disease.
When should you go to the doctor?
If newborn children show noticeable hair immediately after birth, this can be the first sign of an existing irregularity. Although there are no other symptoms at this stage, woolly hair is characteristic of Naxos disease and needs to be evaluated by a doctor. If cardiac activity disorders develop as the growth process progresses, there is cause for concern. Rapid heartbeat, heart failure, unusual blood pressure or a circulatory collapse must be presented to a doctor as soon as possible.
Since the disease can lead to sudden cardiac death if left untreated, a doctor should be consulted as soon as the first abnormalities appear. Sleep disorders, an unusual day-night rhythm, deficits in concentration and attention as well as rapid fatigue should be examined and treated by a doctor. If you lose consciousness, you must call an ambulance. Those present must take first aid measures until his arrival. Otherwise, the person concerned is at risk of premature death.
A low resilience, an inner restlessness and a general feeling of weakness are further signals of an existing health impairment. They should be evaluated by a doctor. In the event of dizziness, unsteady gait and a lack of sporting activities, a doctor should be consulted. If there are members in the family who have already been diagnosed with Naxos disease, doctors should be made aware of this during pregnancy.
Treatment & Therapy
The genetic changes caused by Naxos disease cannot be treated. It is only possible to treat the symptoms of heart problems. There are a number of medications that can be helpful here. Depending on the severity of the heart problems, these include, for example, antiarrhythmics, beta blockers, diuretics or ACE inhibitors.
A cardioverter defibrillator is very often used before the age of 35, which can help to relieve heart problems for a longer period of time. However, in the case of Naxos disease, it is often unavoidable to also have a heart transplant at an older age in order to keep the patient alive for as long as possible.
So far, there are no other options for treating and treating Naxos disease. With the measures mentioned above, people who have this genetic disease can still live to a fairly old age if treated in time.
Outlook & Forecast
Naxos disease offers a relatively poor prognosis. Patients often suffer sudden cardiac death. Implanting a pacemaker is the only way to avoid serious complications. The average life expectancy after a successful heart transplant is currently ten years. In the best-case scenario, patients with the donated heart survive for up to 30 years.
The pronounced physical abnormalities also represent a psychological burden. Those affected are always reminded of their illness by the lesions and bleeding and are often socially excluded. There are also physical complaints such as dizziness or changes in blood pressure. In the long term, right heart failure develops, which is associated with limited performance. In many cases, the result is sudden cardiac death, which cannot be prevented in the long term even by the measures mentioned.
The use of beta-blockers, ACE inhibitors and other drugs is also associated with risks that further worsen the prognosis, also because patients have to take these drugs throughout their lives. Life expectancy is greatly reduced. Many patients die before the age of 50. Also due to the many accompanying symptoms, the prognosis for Naxos syndrome is generally rather negative.
Prevention
Anyone who was born with Naxos disease can no longer prevent the disease itself. It is only possible to counteract the heart problems that later occur as a result of this disease through appropriate prevention. Another form of prevention of Naxos disease is timely identification of the relevant risk groups through appropriate screening of the population in places in the world where inheritance of Naxos disease is more common.
Thus, by identifying the heterozygous carriers of the trait, it is possible to ensure that this hereditary disease does not spread further. With Naxos disease, there is a 25 percent chance of giving birth to an infant who has the disease, in this case an autosomal recessive inheritance in two carriers, mother and father.
Another 25 percent of these children will be perfectly healthy, and another 50 percent will again carry the mutation. It is therefore very important to preventively determine in families in which this disease has already occurred whether the descendants are mutation carriers or not and then to ensure that no further mutation carriers are brought into the world if possible. This is the only way to curb this hereditary disease.
Aftercare
In most cases, those affected with Naxos disease have very few and usually only very limited follow-up measures available, since it is a hereditary disease that cannot be fully cured by a doctor. For this reason, the patient should consult a doctor at the first sign of the disease in order to prevent the occurrence of further complications.
If there is a desire to have children, genetic counseling can also be carried out to prevent the recurrence of Naxos disease in the offspring. Most patients with this disease are dependent on taking various medications. The instructions of a doctor must always be observed here, whereby the person concerned should consult a doctor first if they have any questions or are unclear.
You should also pay attention to the correct dosage and regular intake. Furthermore, regular checks and examinations of the internal organs are necessary, whereby the heart should be checked in particular. In some cases, Naxos disease can reduce the life expectancy of those affected, although the further course depends heavily on the time of diagnosis.
You can do that yourself
Naxos disease is primarily treated with medication and surgery. Sick people can take some measures themselves to support the treatment and to simplify everyday life with the disease. First of all, dietary measures are necessary. Those affected must eat healthily and avoid foods that could put additional strain on the cardiovascular system. These include, for example, salt and glutamate, but also saturated fatty acids. Spicy or irritating foods should be avoided. Caffeine, alcohol and cigarettes should also be avoided. Which diet makes sense in detail should be discussed with a nutritionist.
Naxos disease can also be treated by exercising and avoiding extreme physical exertion and endurance sports. Other self-help measures focus on getting screened regularly and following the doctor’s instructions. Patients who already have a pacemaker should follow the usual tips and keep away from electronic devices, for example. Contact sports must also be avoided.
As the Naxos disease gets worse and worse over time, there is a risk of a permanent deterioration in health. Therapy can help those affected to accept this fact and lead a full and happy life despite the reduced life expectancy.
