When Alström syndrome is a genetic disease that manifests early in childhood. It affects the entire organ system and is associated with a short life expectancy.
What is Alström Syndrome?
Alström syndrome is an extremely rare hereditary disease that affects only a few hundred children and adults worldwide.
Alström syndrome is an extremely rare hereditary disease that affects only a few hundred children and adults worldwide. The syndrome is inherited in an autosomal recessive manner and belongs to the group of ciliopathies . It is characterized by a variety of symptoms that affect a wide variety of organ systems and become more severe and complex with age.
The early one is classic development of photophobia and nystagmus . As a rule, the progressive visual impairment leads to complete blindness even before puberty. In addition to disorders of the metabolism and endocrine system, the kidneys, liver and heart are also affected by the disease. The patient’s cognitive abilities are not restricted. The syndrome was named after the Swedish doctor Carl Henry Alström, who first described the disease in 1959.
Causes
Alström syndrome is passed on to the offspring via an autosomal recessive inheritance. Both parents carry a mutation of the ALMS1 gene on chromosome 2p31 , which is not expressed in its heterozygous form. Only when the genetic defect is present in the genome in a homozygous form does the classic clinical picture develop.
The ALMS1 gene codes for a large protein that can be detected in the centrosome of almost all body cells and is related to the function of the cilia or the function of the cells carrying the cilia. The Alström syndrome thus belongs to the group of ciliopathies. Due to the numerous and varied functions of the cilia, the exact origin of the disease has not yet been clarified. This is still a central topic for many research groups.
Symptoms, ailments & signs
Most symptoms of Alström syndrome appear in early childhood and get worse with age. The affected children usually develop photophobia and nystagmus shortly after birth. Eyesight deteriorates over the course of childhood until children usually become completely blind by the age of twelve.
In addition to visual impairment, hearing impairment occurs during childhood. Heart problems such as dilated cardiomyopathy (a disease of the heart muscle) or sudden heart failure often occur during childhood, but can also only manifest themselves in adolescence or adulthood. The children are often overweight, they suffer from insulin resistance or type 2 diabetes and have high blood lipid levels.
Further symptoms are varied, they range from infertility and thyroid diseases to typical facial features, thin hair or a darkening of the skin. It is not uncommon for the children to have short stature or a curvature of the spine .
Diagnosis & course
Due to the large number of symptoms that only manifest themselves as the disease progresses, the diagnosis of the syndrome is rare. Often it is only in adolescence or adulthood that the complex symptoms can be interpreted as Alström syndrome based on their constellation. If the suspicion of this disease manifests itself, the diagnosis can be confirmed using molecular genetic methods.
Often, however, a genetic test is not performed due to the low sensitivity . The changes in the eye make a significant contribution to the diagnosis. All patients develop nystagmus and photophobia very early in the course of the disease, which lead to non-inflammatory retinal disease and ultimately to complete blindness before reaching adolescence.
Heart failure due to a heart muscle disease can often be diagnosed even before the eye symptoms appear. The risk of heart failure therefore already exists in early childhood and persists into adulthood. Obesity occurs early on ; after puberty, children usually suffer from insulin resistance and even type 2 diabetes.
Hearing loss from the age of 10 is also classic. The progressive liver and kidney damage leads to kidney failure, especially in the second to fourth decade of life .
Complications
Alström syndrome is characterized by a multitude of disorders and symptoms, the course of which becomes more and more complex as the patient ages. A reliable prognosis for the course of the disease is made even more difficult because it is a very rare hereditary disease that affects only a few hundred patients in childhood and adulthood worldwide. The symptoms and the associated health problems appear in early childhood and worsen in the following years of life.
Light sensitivity and uncontrolled eye tremors are characteristic. The patient’s eyesight deteriorates to such an extent that they become blind by the age of 12. Heart problems and heart failure mostly occur in childhood, but can also only become noticeable in adolescence or adulthood. The children often suffer from obesity, insulin resistance and type 2 diabetes.
The other disorders are diverse and range from thyroid diseases and infertility to thin hair, characteristic facial features and darkly discolored skin. From the age of 10, children lose their hearing. A crooked spine is typical of Alström syndrome. Kidney failure often occurs in the second to fourth decades of life.
In many cases the diagnosis is delayed because the complex symptoms and disorders are often misunderstood due to the low sensitivity to this rarely occurring ciliopathy. Due to the multiple organ diseases, life expectancy is low, even with appropriate treatments and individual therapies, because very few patients reach the age of 40.
When should you go to the doctor?
As a rule, Alström syndrome is associated with a sharp reduction in the patient’s life expectancy. Treatment by a doctor can therefore only alleviate the symptoms, but not completely cure them. A doctor should be consulted if the child develops significant visual disturbances at a young age that are still progressive. It is not uncommon for this to result in complete blindness. Any existing heart problems must also be treated properly to prevent sudden cardiac death.
A doctor can also be consulted if the patient’s resilience suddenly drops sharply for no particular reason. Furthermore, the syndrome often leads to psychological complaints, which can occur not only in the patients themselves, but also in the parents and relatives. Here, too, treatment by a psychologist is necessary in order to avoid depression and further upsets. In most cases, life expectancy is reduced to around 40 years due to Alström syndrome.
Treatment & Therapy
Since Alström syndrome is a genetically determined hereditary disease, the pathogenesis of which has not been clearly clarified, treatment can only be symptomatic. Care for the patient in a specialized center is essential, because with an appropriate therapeutic offer and a preventive lifestyle, many symptoms can be alleviated or even avoided.
The heart should be examined regularly using heart echocardiography to check the functionality of the heart muscle. With blood tests , blood pressure measurements and weight reduction, the development of insulin resistance or type 2 diabetes can be counteracted at an early stage or medication can be intervened in good time. Early blindness can be delayed by wearing special filter glasses and mobility exercises.
Learning Braille at an early stage also increases the quality of life for patients. Medicines for the treatment of heart, thyroid, liver and kidney disorders can be given provided that thorough examinations are carried out. Organ transplants can be carried out if necessary, but are to be viewed critically due to the multi-organ disease and the prognosis of the disease.
Despite therapeutic measures that alleviate the course of the disease and improve the patient’s quality of life, only a few patients have a life expectancy of more than 40 years.
Outlook & forecast
In most cases, the patient’s life expectancy is significantly reduced due to Alström syndrome. Since the syndrome occurs in childhood, it can also have a negative psychological impact on the patient’s parents and relatives. These can suffer from depression and other psychological complaints , for example .
The patients themselves mainly suffer from visual problems and hearing damage. In the worst case, this can lead to complete blindness of the patient. Those affected also suffer from heart problems, which can lead to sudden cardiac death . The children are also overweight and suffer from thyroid disorders.
Alström syndrome often leads to short stature and a crooked spine. This complaint affects the person’s posture and movement.
In most cases, the life expectancy of the patient is reduced to around 40 years due to Alström syndrome. A causal therapy is not possible, so that only the symptoms can be limited. As a rule, the person concerned is therefore dependent on regular examinations. Diabetes must also be recognized and treated at an early stage.
Prevention
Alström syndrome cannot be prevented due to its genetic cause. Still, a decent lifestyle can alleviate or prevent many symptoms. Light sports such as swimming, cycling or running are recommended.
If a mutation is already known within the family, genetic counseling should be sought, especially if you are planning to have children. A prenatal diagnosis may be possible.
Aftercare
Since Alström syndrome is a genetic disease that cannot be treated causally but only symptomatically, there are usually no special follow-up options available to those affected. The life expectancy of the patient is also considerably restricted and reduced by Alström syndrome, so that most patients die at a young age.
In the case of Alström syndrome, the parents and relatives of the patient in particular are therefore dependent on psychological treatment in order to avoid further complications and depressive moods. Contact with other sufferers of the syndrome can also prove to be positive and sensible, as this can lead to an exchange of information.
Those affected depend on long-term treatment and many regular examinations to alleviate the symptoms. Mobility can also be increased through various exercises, although these exercises can often also be performed in your own home. In the case of depression in the patient himself, discussions with parents, family or friends are very helpful. In serious cases, patients with Alström syndrome need external help in their everyday lives.
You can do that yourself
Alström syndrome is a progressively progressive disease that is always associated with serious complications for those affected. Therefore, the most important self-help measure is early therapy. Parents of affected children are best advised to speak to their general practitioner so that contact can be made with a suitable specialist.
In addition, the individual symptoms must be treated. The increasing blindness, which usually reaches its peak between the ages of ten and twelve, has to be compensated for by glasses and other aids, later by organizing a guide dog or similar assistance measures.
Hearing problems also require comprehensive treatment, which must be regularly adapted to the progressive course of the disease. If psychological complaints arise in the context of Alström’s syndrome, for example depressive moods, anxiety attacks or inferiority complexes , further therapeutic measures are available.
The disease can be more easily accepted if there is contact with other people who suffer from the same symptoms. The patient needs different operations. Before and after these interventions, the doctor’s instructions must be complied with. An optimally supervised treatment improves the chances of a relatively symptom-free life considerably.
