Alagille Syndrome

In which Alagille Syndrome it is a genetic disease. The disease is usually identified with the acronym ALGS designated. Synonyms for the disease are arteriohepatic dysplasia or Alagille-Watson Syndrome. Alagille syndrome is relatively rare, with a frequency of 1: 70,000 or 1: 100,000 being assumed.

What is Alagille Syndrome?

The Alagille syndrome was named after the person who first described the disease. This is the French scientist Alagille. Alagille syndrome is a hereditary disease that is inherited by children in an autosomal dominant manner.

Decisive for the development of the disease is the defect of a certain differentiation protein, which is responsible for different types of tissue in the human organism. For this reason, it is possible that many different organ systems of the body become ill as part of Alagille syndrome.

For example, some people have liver problems. In principle, the individual clinical appearance varies greatly from person to person. It is also characteristic that many patients show little or no symptoms.

causes

Alagille syndrome has a genetic component. A special defect in a gene is responsible for the development of the disease. In principle, Alagille syndrome is inherited as an autosomal dominant trait. The penetrance is 100 percent, while the phenotypic appearance is very different from patient to patient.

In principle, a distinction is made between two sub-categories of Alagille syndrome, which relate to different mutations. Different gene locations are affected. If the mutation is on the 20th chromosome, the condition is known as ALSG1. A mutation on the 1st chromosome is ALSG2.

It is also possible that new mutations may result. The probability for this is more than 50 percent. Any person who has a corresponding mutation also shows symptoms of the disease in the phenotype. However, the degree of Alagille syndrome differs from person to person.

Symptoms, ailments & signs

The complaints that arise in connection with Alagille syndrome are very diverse and often affect several organs. For example, so-called biliary obstruction (medical term cholestasis) is typical. Jaundice usually develops in newborn babies.

In addition, the facial features of the affected patients show noticeable deviations from the average. The forehead is often very broad. The eyes are deep and the chin is usually relatively small. The skeleton also shows abnormalities such as clinodactyly, shortened distal phalanges, a short elbow bone and butterfly vertebrae.

Diseases that affect the eyes and the optic nerves are also characteristic of Alagille syndrome. Embryotoxons are possible here, for example. In addition, the affected people suffer more from diseases of the heart. When the liver is diseased with Alagille syndrome, a variety of complaints are possible.

These include, for example, jaundice, short stature, hypertension of the portal vein, itching and so-called hypercholesterolemia, in which cholesterol accumulates under the skin. In addition, the spleen enlarges in some patients.

Diagnosis & course

The suspicion of the presence of Alagille syndrome arises in numerous cases from the visual abnormalities of the sick people. Visiting a suitable specialist is advisable in order to make a reliable diagnosis and initiate appropriate treatment. First of all, the treating specialist discusses the symptoms and the medical history with the patient or, in the case of minors, their legal guardian.

Since Alagille syndrome is a hereditary disease, family history plays a central role. Numerous examinations are carried out after the patient interview. For example, the spine and heart are x-rayed.

The eyes and optic nerves are also examined. In this way, numerous typical anomalies that indicate Alagille syndrome can already be identified. A genetic analysis is used to obtain final certainty about the presence of the disease. This means that the corresponding mutations can be detected. A liver biopsy provides less certainty.

It only indicates symptoms and their origin, but not the underlying disease. In the majority of sick people, the diagnosis of Alagille syndrome is made on the basis of the clinical symptoms and typical accompanying symptoms.

Complications

With Alagille syndrome, various complications can arise depending on the severity of the disease. If only the liver is affected, itching and reddening occur in the course of the syndrome, but often severe kidney diseases that can later lead to jaundice and hypercholesterolemia. In the long term, the Alagille syndrome can lead to short stature, enlarged spleen and deformities in the face.

The disease is characterized by widely spaced eyes, a narrow chin and a large forehead. The syndrome also increases the risk of heart defects, eye malformations, butterfly vertebrae and vascular malformations. In addition, it is above all the diverse concomitant diseases of Alagille syndrome that lead to serious complications.

The jaundice mentioned is associated with deficiency symptoms, fever and a general malaise, while disorders of the immune system are associated with an increased susceptibility to infections and diseases. If the liver is already severely damaged, this can lead to life-threatening biliary stasis with severe pain and high fever. The often necessary liver transplant can lead to complications such as inflammation and rejection reactions, which in rare cases can be fatal. The earlier action is taken, the less likely it is to have serious complications in Alagille syndrome.

When should you go to the doctor?

If Alagille syndrome is suspected, a doctor must always be consulted who can diagnose the hereditary disease and, if necessary, treat it directly. Medical advice is required at the latest when a newborn shows typical symptoms such as jaundice, disorders of the cardiovascular system or abnormalities of the face (butterfly vertebrae, kinked finger joints, shortened ulna, etc.). Diseases of the eye or the optic nerves also indicate a serious condition that must be clarified.

The signs of the hereditary disease are usually recognized in the hospital and can be treated immediately. If the symptoms mentioned recur again and again in the first few months of life and increase with age, you should speak to your pediatrician. In addition to Alagille syndrome, there may be other diseases that can have serious consequences if left untreated. It is therefore advisable to seek medical advice and have the child examined at the first suspicion. The symptoms usually lead to the unequivocal conclusion that there is a disease that needs treatment.

Doctors & therapists in your area

Treatment & Therapy

Most people with Alagille syndrome do not need any treatment. Because often the symptoms are only mild.However, depending on the presence of organs, therapy is sometimes necessary.

For example, if the liver is affected by the disease, regular check-ups are necessary, especially in children and adolescents. In this way the course of the disease can be controlled. It may be necessary for those affected to take additional vitamins or to adhere to certain diets.

A liver transplant is indicated if the organ becomes increasingly remodeled or if the patient suffers from itching that can no longer be controlled with drugs. A causal cure from Alagille syndrome is not possible because it is a genetic disease. Only the symptoms are treated.

Outlook & forecast

In most cases, Alagille syndrome leads to jaundice and biliary congestion in babies or newborns. There can also be various malformations and deformities all over the patient's body, although the face is usually most affected by the deformities. This can lead to teasing or bullying, especially among children. The optic nerves are also often affected, which can lead to visual problems.

Alagille syndrome also has a negative effect on the heart and can cause various problems and ailments in the heart. Those affected suffer from short stature and often from itching. There is also an enlargement of the patient's spleen. The patient's quality of life is thus significantly reduced by Alagille syndrome.

Treatment of Alagille syndrome is not always necessary. If the symptoms are only very weak, the syndrome does not need to be treated. A causal treatment is not possible, so only the symptoms can be treated. As a rule, there is no reduced life expectancy.

prevention

Alagille syndrome is a hereditary disease, so preventive measures do not exist. Therefore it is very important to start therapy quickly.

Aftercare

The options for follow-up care are usually severely limited in Alagille syndrome. With this disease, the person affected is always dependent on medical treatment to alleviate the symptoms of the disease. There is no self-healing.

Since Alagille syndrome is also a hereditary disease, it cannot be completely cured. If you want to have children, hereditary advice is useful to prevent the syndrome from being passed on to the children. As a rule, those affected are dependent on the intake of vitamins and various medications.

Care should be taken to ensure that it is taken regularly. Interactions with other drugs should also be considered in order to prevent complications. Parents must also ensure that children take the medication regularly. Furthermore, regular examinations of the internal organs in Alagille syndrome are necessary in order to detect damage early and treat it.

In the case of surgical interventions, the person concerned should rest after such an operation and take care of his body. Contact with other sufferers of the disease can also have a positive effect on the course of the disease. In some cases, the patient's life expectancy is also limited by Alagille syndrome.

You can do that yourself

Alagille syndrome (ALGS) cannot be treated causally. Nevertheless, if ALGS is suspected, a doctor should be consulted who will diagnose the disease and treat the symptoms. In no case should you try to treat the side effects of the disease yourself.

Whether and what a patient can contribute to improving their symptoms depends on which organs are affected and which concomitant symptoms occur. ALGS is often associated with liver disease and jaundice. These disorders must be treated by a doctor. Naturopathy knows a number of methods that support the therapy of jaundice. Garden chervil tea is used, for example.

When preparing it, 30 grams of fresh garden chervil are poured over a liter of boiling water. Before straining, the tea has to steep for ten minutes, then it is drunk in cups throughout the day. Tea is made in the same way from dandelions and daisies or from real soapwort. With soapwort, however, the leaves have to cook for five minutes.

Patients for whom the disease is accompanied by severe itching can help antihistamines from the pharmacy, which are available without a prescription as cream, gel or drops.