Pearson ‘s syndrome is a very rare disease with genetic causes. The disease is also referred to by some physicians with the term Pearson’s disease. The hereditary disease is one of the so-called mitochondriopathies. Pearson’s syndrome is characterized by multisystemic complaints. Deletion of mitochondrial DNA is typical of the disease.
What is Pearson Syndrome?
Pearson ‘s syndrome is a genetic disease that occurs with a very low frequency in the population. To date, the medical specialist literature only knows about one hundred cases of illness in which people suffer from Pearson’s syndrome. See growtheology for Comprehensive Guide to Heart Muscle Inflammation.
Therefore, the frequency of Pearson’s syndrome is estimated at less than 1:1,000,000. The previous observations and studies of patients provide reliable evidence that Pearson’s syndrome occurs in males and females with about the same probability.
Basically, Pearson’s syndrome is a hereditary disease. As a result, specific levels of genetic mutations are responsible for people being born with the syndrome. In principle, the disease represents a multisystemic syndrome.
The main cause of the development of Pearson’s syndrome are genetic mutations in the area of mitochondrial DNA. Certain mutations cause errors in the genetic information to develop. As a result, the people affected develop the typical symptoms of Pearson’s syndrome, which are usually evident from birth.
Symptoms, Ailments & Signs
In Pearson’s syndrome, different complaints and symptoms occur, which are quite different in their combination and strength in several patients. However, a typical association of certain signs points to the disease. The first signs of Pearson’s syndrome appear even in infants.
The sick children suffer from a so-called sideroblastic anemia of a refractory type. Some of the people are therefore dependent on transfusions. Pancytopenia and fibrosis of the pancreas are sometimes also present. The affected children may suffer from exocrine pancreatic insufficiency.
As a result, diarrhea with a chronic course often occurs. In addition, some patients with Pearson’s syndrome develop lactic acidosis, which has either an intermittent or persistent course. In addition, numerous organs are sometimes affected by Pearson’s syndrome, such as the kidneys, heart, liver and spleen. In some cases, the hormone system is also affected by the disease.
When the liver is affected by Pearson’s syndrome, symptoms such as cytolysis, hepatomegaly and cholestasis usually occur. If the kidneys are impaired, the affected persons suffer from aminoaciduria and tubulopathy. Some people have slower intellectual development as a result of Pearson’s syndrome.
In many cases, the affected children are particularly susceptible to infectious diseases. Therefore, a large proportion of sick newborns and young children die from Pearson’s syndrome. Surviving patients are at increased risk of developing Leigh syndrome, Kearns-Sayre syndrome, and mitochondrial disease later in life. The latter phenomenon is often associated with myopathy and ophthalmoplegia.
Diagnosis & course of disease
The diagnosis of Pearson’s syndrome is usually made by paediatricians and various specialists. Given the rarity of the disease, diagnosis can become a lengthy process. The typical symptoms of the disease usually give rise to intensive examinations soon after the birth of the sick child.
With the help of various examination techniques, the spectrum of possible diseases is increasingly narrowed down. Laboratory blood tests in particular make a significant contribution to the diagnosis of Pearson’s syndrome. The decisive factor for a reliable diagnosis of Pearson’s syndrome is primarily the detection of the singular deletion of the mitochondrial DNA.
In addition, a smear of the bone marrow is usually used for diagnosis. A so-called vacuolation of preforms of erythrocytes and granulocytes can be detected. In addition, a test with Prussian blue is carried out, whereby certain forms of sideroblasts can be identified. In the majority of cases, the disease occurs sporadically in humans. Doctors take into account, for example, the GRACILE syndrome as part of the differential diagnosis.
Pearson’s disease causes various symptoms in patients. These can occur at a very young age and can affect the kidneys, heart and liver. In the worst case, they lead to the death of the person concerned. Kidney problems in particular can lead to kidney failure, so that patients are dependent on a transplant or dialysis.
Furthermore, the quality of life of those affected is significantly reduced and restricted by Pearson’s disease. It is not uncommon for the disease to lead to developmental disorders in the patient. The children suffer from reduced intelligence and mental retardation. Likewise, Pearson’s disease often leads to psychological problems or depression in the parents and relatives of the patient.
A causal treatment of this disease is usually not possible. However, some symptoms can be reduced with the help of medication or therapy. However, Pearson’s disease always leads to a reduced life expectancy for the patient, so that they die at an early age.
When should you go to the doctor?
In most cases, the first signs of the disease appear in the newborn. Many affected children develop symptoms shortly after birth, which usually give rise to thorough medical examinations. Paediatricians usually notice early on in the context of newborn care that there is a need for action. Since Pearson’s disease is extremely rare, the clinical picture is largely unknown to many physicians. For this reason, a specialist doctor should be consulted.
A genetic predisposition for Pearson’s disease in the family is almost never known. In this case, parents should consult a doctor before the birth of the child. If Pearson’s disease is suspected after delivery, parents should see a specialist as soon as possible. Symptoms such as renal insufficiency or liver failure, which can lead to death, can occur even in young people affected. Patients usually die at a very young age. In order to significantly increase life expectancy, treatment should begin as early as possible.
Treatment & Therapy
Pearson’s syndrome as a genetically caused disease can only be treated symptomatically, but not causally. When treating the symptoms, antibiotics are primarily used to treat infectious diseases or transfusions to treat the anemia. Some patients are given substances that support the functioning of the pancreas. Disorders of the hormonal balance are treated with appropriate medical agents.
Research studies are currently underway using stem cell therapy for the long-term treatment of Pearson’s syndrome. The anemia may also be treated with the administration of the drug erythopoietin. In principle, the prognosis of Pearson’s syndrome is rather poor. Many patients die by the age of three from liver failure or sepsis.
If the sick person survives the first years of life, the symptoms of Pearson’s syndrome change. Complaints such as anemia often decrease while neurological difficulties increase. Some patients also develop additional symptoms, such as retinitis pigmentosa.
Outlook & Forecast
The prognosis of Pearson’s disease is relatively poor. Many children die as a result of the disease. The main problems are blood poisoning and organ failure. Health complications usually lead to the death of the child by the age of three. Sick people have to be monitored by a doctor, which severely limits their quality of life.
For parents and relatives, the illness of the child means a great emotional burden. Therapeutic care is usually required. Symptomatic treatment can delay serious complications and the death of the child. Only in a few cases do the patients reach adolescence or adulthood.
In cases where the condition is not fatal, those affected later develop other conditions, such as Kearns-Sayre syndrome. The mutation T14484C offers a better prognosis because the viruses that occur can be treated in part. With Pearson’s disease, there is no prospect of recovery for the patient. Life expectancy is greatly reduced and well-being is restricted. A currently tested stem cell therapy could make a cure possible in the future. The responsible specialist makes the exact prognosis with regard to the symptoms and the constitution of the child.
Pearson’s syndrome as a hereditary disease cannot yet be prevented. The possibilities for preventing genetic diseases have not yet been sufficiently researched and tested to be able to use them successfully in humans.
In most cases, those affected with Pearson’s disease have very few and only very limited options or measures for direct aftercare. The affected person should therefore consult a doctor as early as possible in order to prevent further complications and symptoms from occurring. Self-healing is also not possible.
If there is a desire to have children, a genetic test and counseling should be carried out to prevent the disease from recurring in the offspring. The disease itself is usually treated by administering various medications. The patient should always pay attention to the correct dosage and regular intake in order to counteract the symptoms properly and permanently.
When taking antibiotics, it should be noted that they should not be taken together with alcohol. Furthermore, regular check-ups and examinations by a doctor are very important for Pearson’s disease. Contact with other people affected by the disease can also be useful. It is not uncommon for information to be exchanged, which can make everyday life easier for the patient. As a rule, Pearson’s disease does not reduce the life expectancy of the person affected.
You can do that yourself
Patients with Pearson’s disease have few options for self-help. The disease is incurable and associated with numerous complaints. Everyday life should be designed with consideration for the state of health and the possibilities of the person concerned. The doctor’s recommendations should be followed to avoid further complications.
It is important to avoid pollutants. The consumption of nicotine, drugs or alcohol should be completely avoided. They can cause organ damage or increase symptoms. A balanced, vitamin-rich and healthy diet supports the organism and the immune system.
Since the disease can lead to premature death in severe cases, taking unnecessary risks should be avoided. The joy of life should be promoted and the quality of life should be optimized. The relatives are encouraged to get help themselves so that they can support the sick person well and at the same time pay sufficient attention to their own well-being. They are an important part of the patient’s life and should therefore also pay attention to their own health with all due consideration.
A stable environment is important in managing the disease. An exchange in self-help groups or internet forums can be perceived as pleasant. There, tips and information can be given that contribute to the promotion of health.