Pearson syndrome is a very rare disease with genetic causes. The disease is also known as Pearson’s disease among some medical professionals. The hereditary disease belongs to the so-called mitochondriopathies. Pearson’s syndrome is characterized by multisystemic complaints. The disease is typically characterized by deletion of mitochondrial DNA.
What is Pearson syndrome?
Pearson syndrome represents a genetic disease that occurs with very low frequency in the population. To date, the medical literature knows of only about one hundred cases of individuals with Pearson syndrome. Therefore, the frequency of Pearson syndrome is estimated to be less than 1:1,000,000. Previous observations and studies of patients provide reliable evidence that Pearson syndrome is about equally likely to occur in males and females.
Causes
Basically, Pearson syndrome is a hereditary disease. Accordingly, specific manifestations of genetic mutations are responsible for people being born with the syndrome. In principle, the disease represents a multisystemic syndrome. The main cause of Pearson syndrome is genetic mutations in mitochondrial DNA. Certain mutations cause errors in genetic information to develop. As a result, affected individuals develop the typical symptomatology of Pearson syndrome, which is usually evident from birth.
Symptoms, complaints, and signs
Pearson syndrome presents with a variety of complaints and symptoms, which may well vary in their combination and severity in several patients. However, a typical association of certain signs points to the disease. The first signs of Pearson’s syndrome already appear in infants. In this case, the diseased children suffer from a so-called sideroblastic anemia of refractory type. Therefore, some of them are dependent on transfusions. In addition, sometimes pancytopenia as well as fibrosis of the pancreas are present symptoms. Under certain circumstances the affected children suffer from exocrine pancreatic insufficiency. As a consequence, diarrhea with a chronic course is not uncommon. In addition, some patients with Pearson’s syndrome develop lactic acidosis with either an intermittent or persistent course. In addition, Pearson’s syndrome sometimes affects numerous organs, such as the kidneys, heart, liver, and spleen. In some cases, the hormonal system is also affected by the disease. When the liver is affected by Pearson syndrome, symptoms such as cytolysis, hepatomegaly, as well as cholestasis usually occur. When the kidneys are affected, affected individuals suffer from aminoaciduria as well as tubulopathy. Some individuals exhibit slowed development of intellectual abilities as a result of Pearson’s syndrome. In numerous cases, affected children are particularly susceptible to infectious diseases. As a result, a large proportion of affected newborns and infants die as a result of Pearson syndrome. The surviving patients have an increased risk of developing Leigh syndrome, Kearns-Sayre syndrome and mitochondriopathy in the course of their further life. The latter phenomenon is often associated with myopathy and ophthalmoplegia.
Diagnosis and disease course
Pearson syndrome is usually diagnosed by pediatricians and various specialists. With regard to the rarity of the disease, diagnosis may develop into 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 contribute significantly to the diagnosis of Pearson’s syndrome. The decisive factor for a reliable diagnosis of Pearson syndrome is primarily the detection of the singular deletion of the mitochondrial DNA. In addition, a smear of the bone marrow is normally used for diagnosis. A so-called vacuolization of preforms of erythrocytes and granulocytes can be detected.In addition, a test is made with Berliner blue, whereby certain forms of sideroblasts can be identified. In the majority of cases, the disease appears sporadically in humans. Physicians consider GRACILE syndrome, for example, as part of the differential diagnosis.
Complications
Pearson’s disease causes patients to experience a variety of symptoms. In this case, 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 affected person. Kidney problems in particular can lead to renal insufficiency, making patients dependent on a transplant or dialysis. Furthermore, the quality of life of the affected person is significantly reduced and limited by Pearson’s disease. Not infrequently, the disease also leads to developmental disorders in the patient. The children suffer from reduced intelligence and also from mental retardation. Likewise, Pearson’s disease not infrequently leads to psychological complaints or depression in the parents and relatives of the patient. A causal treatment of this disease is usually not possible. However, some complaints can be limited with the help of medications or therapies. However, Pearson’s disease in any case leads to a reduced life expectancy of the patient, so that they die at an early age.
When should you see a doctor?
In most cases, the first signs of the disease appear in the neonatal period. In many affected children, a pattern of symptoms develops shortly after birth, usually giving rise to thorough medical examinations. As a result, pediatricians usually notice early on in the course of newborn checkups that action is needed. Since Pearson’s disease occurs extremely rarely, the clinical picture is largely unknown to many medical professionals. For this reason, a specialist should definitely be consulted. Almost never is a genetic predisposition to Pearson’s disease already known in the family. In this case, parents should consult a physician even before the child is born. If Pearson’s disease is suspected after delivery, parents should consult a specialist as soon as possible. Even young sufferers may experience symptoms such as renal failure or liver failure, which can lead to death. Patients usually die at a very young age. To significantly increase life expectancy, treatment should begin as early as possible.
Treatment and therapy
Pearson syndrome, as a genetically caused disease, can only be treated symptomatically, not causally. Treatment of the symptoms primarily involves antibiotics for infectious diseases or transfusions to treat the anemia. Some patients receive substances that support the function of the pancreas. Disorders of hormonal balance are treated with appropriate medical agents. For long-term treatment of Pearson’s syndrome, research studies are currently underway on the use of stem cell therapy. Anemia may also be treated with administration of the drug erythopoietin. The prognosis of Pearson’s syndrome is generally poor. Many patients die by the age of three from failure of liver function or sepsis. If the affected 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 and prognosis
The prognosis of Pearson disease is relatively poor. Many children die as a result of the disease. Blood poisoning and organ failure are particularly problematic. Health complications usually lead to the death of the child by the age of three. Sick children must be monitored by doctors, which severely limits their quality of life. For parents and relatives, the illness of the child means a great emotional burden. In most cases, therapeutic care is required. Symptomatic treatment can delay serious complications and the death of the child. Only in a few cases do sufferers reach adolescence or adulthood. In cases where the condition is not fatal, sufferers later develop other conditions such as Kearns-Sayre syndrome.The T14484C mutation offers a better prognosis, as the viruses that occur can be partially treated. In Pearson’s disease, there is no prospect of recovery for the patient. Life expectancy is greatly reduced and well-being is limited. A current proven stem cell therapy could make a cure possible in the future. The exact prognosis is made by the specialist in charge with regard to the symptom picture and the child’s constitution.
Prevention
Pearson syndrome as a hereditary disease cannot be prevented at present. Currently, the options for prevention of genetic diseases have not been sufficiently researched and tested to be successfully applied in humans.
Follow-up
In most cases, the person affected by Pearson’s disease has very few and also very limited options or measures for direct aftercare. The affected person should therefore see a physician as early as possible to prevent further occurrence of complications and symptoms. There is also no possibility of self-healing. In case there is a desire to have children, genetic testing and counseling should be done to prevent a recurrence of the disease to the offspring. The disease itself is usually treated by the administration of various medications. The patient should always pay attention to a 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 checks and examinations by a doctor are very important in 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 the patient’s daily life easier. As a rule, Pearson’s disease does not reduce the life expectancy of the affected person.
What you can do yourself
Pearson’s disease leaves the patient with few options for self-help. The disease is incurable and associated with numerous complaints. The organization of everyday life should be done in consideration of the state of health as well as the possibilities of the affected person. Medical recommendations should be followed to avoid further complications. It is important to avoid harmful substances. The consumption of nicotine, drugs or alcohol should be completely refrained from. They can cause organ damage or cause an increase in symptoms. A balanced, vitamin-rich and healthy diet supports the organism as well as the immune system. Since the disease can lead to premature death in severe cases, taking unnecessary risks should be avoided. The joy of life is to be promoted and the quality of life should be optimized. The relatives are urged to get help themselves so that they can support the ill person well and at the same time pay sufficient attention to their own well-being. They are an important support in the patient’s life and should therefore also pay attention to their own health while showing due consideration. A stable environment is important in coping with the disease. An exchange in self-help groups or Internet forums can be found to be pleasant. Tips and advice can be given there to help promote health.
