Hers’ disease is assigned to the group of glycogen storage diseases and represents a disease that is characterized in most cases by a deficiency of a specific enzyme. This enzyme is the so-called alpha-glucan phosphorylase enzyme, which is particularly found in the liver.
What is Hers disease?
Hers ‘ disease is a metabolic disease in which glycogen storage is impaired. The disease is inherited in an autosomal recessive or X-linked manner. In the German name it is often referred to as Hers disease with the presence of the so-called glycogenosis type VI. See homethodology for Hydrocele Overview.
A pathological deficiency of phosphorylase in the liver means that the glycogen substance cannot be sufficiently broken down. As a result, the glycogen remains in the liver and cannot be used by the body as an energy source. Apart from the liver, in most cases no other organs are affected by the lack of phosphorylase in Hers’ disease.
Causes
There are several potential causes of Hers disease. In general, these are enzyme defects in the phosphorylase kinase system in the liver and in the muscles that are congenital. The causes are known to be an X-chromosomal defect in the so-called phosphorylase b-kinase of the liver, a defect in liver phosphorylase and the combined failure of phosphorylase b-kinase in the muscles and the liver.
With regard to liver phosphorylase, a connection to mutations in a specific gene, the PYGL gene, has been established. In view of the combined defect of muscle and liver phosphorylase, the PHKB gene has been identified.
Symptoms, Ailments & Signs
In most cases, the symptoms of Hers’ disease already appear in childhood and during puberty. The disease is usually characterized by a relatively mild course. The typical cardinal symptoms of Morbus Hers consist of the pathological enlargement of the liver (medical term hepatomegaly) as well as growth retardation.
In addition, mild to moderate hypoglycaemia can occur, but this recedes with increasing age. In many cases, hepatomegaly also decreases with increasing age of the affected person and can also completely regress. Residual enzyme activities have been identified in some de novo mutations, accompanied by mild ketosis as well as slightly elevated levels of cholesterol, triglycerides, and transaminases.
With regard to the X-chromosomal defect in the phosphorylase kinase of the liver, connections to physical diseases such as osteoporosis, liver cirrhosis, neurological diseases, trunk obesity or increased lactate levels have also been reported less frequently.
Diagnosis & course of disease
Hers’ disease can only be diagnosed with certainty by specialist medical examinations and laboratory analyses. There are various options for making a reliable diagnosis of Hers’ disease, the use of which should be weighed up with regard to the individual case. In many cases, a reduced enzyme activity in the liver (medical term phosphorylase) serves as proof.
Likewise, reduced enzyme activities both in the leukocytes and in the erythrocytes can serve as possible evidence of Morbus Hers. In addition, reduced levels of glucose and lactate in connection with increased levels of transaminases indicate the presence of Hers’ disease. In general, the enzyme defect can be detected both in the liver and in the lymphocytes.
In addition, molecular genetic detection of a mutation of specific genes in combination with clinical findings represents another possibility for diagnosing Hers’ disease. A liver biopsy can also be considered as an instrument-based possibility for diagnosing Hers’ disease.
Complications
Due to Hers’ disease, children in particular suffer from various symptoms and complaints. In most cases, growth and child development disorders occur. It is not uncommon for those affected to be restricted in their everyday lives and also dependent on the help of other people. The patient’s quality of life is significantly reduced by Hers’ disease.
Mental retardation can also occur, which can lead to learning difficulties. As a result, children can become victims of teasing or bullying and develop mental health problems or depression as a result. Likewise, the disease has a very negative effect on the liver. A causal treatment of Morbus Hers is not possible.
Those affected are therefore dependent on various therapies that are intended to limit the symptoms. However, it is not uncommon for the disorders to recede on their own in old age. As a rule, the treatment is carried out with the help of stem cells. Immunosuppressants can also limit Hers’ disease. Whether this will lead to a reduction in life expectancy cannot generally be predicted.
When should you go to the doctor?
The first symptoms of Hers’ disease appear in childhood up to puberty. Growth disorders or swelling on the body are particularly noticeable. If, in direct comparison to children of the same age, a significantly reduced body size can be perceived during the growth process, the indications should be discussed with a doctor. A doctor should also be consulted if there is swelling in the upper body at the level of the liver. It must be examined and clarified whether there is an enlargement of the organ. If general functional disorders appear, if there are abnormalities or changes in the skin’s appearance or if the drive is reduced, a doctor is needed.
If the skin is pale or has a yellowish discoloration, you should see a doctor. An inner restlessness, increased irritability and disturbances in concentration indicate health impairments that need to be examined and treated. Attacks of ravenous hunger and severe tiredness or exhaustion are further signs of an existing irregularity. If the symptoms persist for several days or weeks, a doctor must be consulted. If behavioral problems occur, if there are emotional and psychological problems or if a strong withdrawal behavior is observed, there is cause for concern. A doctor’s visit is necessary so that the cause can be clarified. A decrease in the usual performance must also be presented to a doctor.
Treatment & Therapy
The therapy of Hers’ disease with glycogenosis type VI can be purely symptomatic in the vast majority of affected patients, whereby symptoms should be avoided. In this context, the main goal of treatment is simply prevention of hypoglycaemic episodes. In order to be able to carry out this preventive therapy, there must be a good overall prognosis of Hers’ disease for the individual case.
On the other hand, in more complicated cases, existing metabolic disorders must be compensated for and organ dysfunction compensated. In addition, concomitant nutritional therapy should also be considered. The diet should be characterized by carbohydrate-rich and small meals. The use of immunosuppressive drugs can be considered as drug therapy.
Hers’ disease can also be treated surgically by transplanting stem cells. However, in many cases no treatment of Hers’ disease is required. However, the disease must be monitored by a doctor in the form of regular examinations.
In the event of a potential deterioration of individual symptoms or the overall condition of the patient concerned, to be able to initiate appropriate therapeutic measures immediately. In general, the prognosis for Hers’ disease can be classified as mostly good.
Outlook & Forecast
Hers disease usually offers a good prognosis. The disease often regresses during puberty or early adulthood. Until then, the disease offers a comparatively mild course that does not cause any major symptoms. Typically, hypotension, hypoglycemia, and growth problems occur. Serious problems can be avoided by correcting the deficiency symptoms.
A prerequisite is usually a permanent adherence to the strict diet. When combined with an unhealthy lifestyle or pregnancy, Hers disease can develop into a chronic condition that can lead to serious complications. A change in lifestyle or comprehensive treatment of the pregnancy improves the prognosis and enables the patient to lead a relatively normal life without any noticeable restrictions.
Hers’ disease often results in psychological problems that need to be treated. Typical are depressive moods, which also develop due to the hormonal imbalance. The physical limitations, which also result in a restricted quality of life, are particularly problematic. Complications are avoided through a targeted diet and regular check-ups by the doctor. The specialist doctor makes the prognosis, taking into account the symptoms and the chosen therapy.
Prevention
Since Hers’ disease is an inherited disease that is caused, for example, by gene mutations or certain chromosomal defects, there are currently no preventive measures for the disease. Since Morbus Hers primarily occurs in childhood and adolescence, it is essential to initiate medical examinations as soon as the first symptoms appear.
The treating physicians can then order appropriate preventive and therapeutic measures for the individual clinical picture. This can have an extremely positive influence on the prognosis for Hers’ disease.
Aftercare
Follow-up care in the true sense of the word is not available for the genetically caused metabolic disease Morbus Hers. The disease cannot be cured causally. The basis of good health despite suffering is an appropriate diet and check-ups. Accordingly, follow-up examinations only result from examinations to monitor the success of the therapy.
This is sufficient for all milder forms of glycogenosis type VI. There are usually no medical complications that require further treatment and follow-up care. Accordingly, there is no medical follow-up care in the narrower sense. This is different when the organ functions are restricted in more severe cases.
The liver in particular can suffer from the metabolic disease and sometimes pathological changes in the tissue and cirrhosis occur. Accordingly, some surgical measures up to and including transplantation are necessary. This results in the need for medical follow-up care, which is intended to stabilize the patient and guarantee that the patient’s body will accept the donor material. Follow-up examinations are planned.
Overall, all those affected are well advised to have their metabolism checked at regular intervals. Changed living conditions and physical changes sometimes make it necessary to adapt the therapy, the success of which should also be checked by follow-up examinations.
You can do that yourself
Patients suffering from Hers’ disease primarily need to adjust their daily habits and especially their diet. The diet must provide energy over the long term and stabilize blood sugar levels in order to prevent hypoglycemic phases.
Long periods of fasting should be avoided. Patients should eat frequent, smaller meals and pay attention to a balanced diet. Bad carbohydrates and simple sugars may only be consumed in limited amounts. Instead, uncooked cornstarch and other slow-digesting foods can help stabilize blood sugar levels.
Structured therapy improves well-being and physical and mental performance. Patients should work with their physician and a nutritionist to create an appropriate diet that is tailored to their individual symptoms.
Sporting measures are also available to accompany this. During a hypoglycemic phase, a short walk helps. In the case of severe symptoms, however, the doctor must be informed, as serious complications can occur under certain circumstances. In connection with drug treatment, Morbus Hers can be treated well with the self-help measures mentioned. In severe cases, inpatient treatment in a specialist clinic is necessary.
