What is Nesidioblastosis?
Hyperplasias are a group of disorders associated with enlargement of certain tissues or organs. The cause of the increase in size is an increase in the number of cells. In the pancreas are the so-called Langerhans Islands, the endocrine cell accumulations correspond to the carbohydrate metabolism.
Hereditary hyperplasia of islet cells is called nesidioblastosis. The disease is also called persistent hyperinsulinemic hypoglycemia and manifests in infancy. In particular, islet cell hyperplasia causes neuroglucopenic symptoms and is considered a common cause of hypoglycaemia. The main neurological concomitant symptoms of the disorder include visual disturbances, speech disorders, and confusion, which give islet cell hyperplasia a clinically similar picture to a stroke.
The familial form of the disease often causes newborns to develop severe hypoglycaemia, which can persist into adulthood. Especially in adulthood, the doctor usually does not first think of nesidioblastosis in the described symptoms.
The hereditary form of nesidioblastosis is caused by a genetic mutation. The gene locus p15.1 on chromosome 11 has now been identified as the locus of the mutation. The genetic defect causes a focal or diffuse multiplication of islet cell tissue in the pancreas. The focal form causes focal adenomatous hyperplasia. In the diffuse form, all beta cells hypertrophy in the islets of Langerhans.
The concomitant symptoms of hypoglycaemia are a natural consequence of hypertrophy and thus correspond to an indirect consequence of the genetic mutation. Familial accumulation was observed for nesidioblastosis. The disease is therefore hereditary and does not appear to be sporadic.
Because of the main symptom of low blood sugar, the diagnosis of familial nesidioblastosis is often difficult. A genetic mutation is rarely accepted in low blood sugar. However, islet cell hyperplasia is the most common cause of the symptoms of severe hypoglycaemia, especially in infants.
Symptoms, complaints & signs
The patients of nesidioblastosis show as a leading symptom an enlarged pancreas. Accompanied by the proliferation of the cells hypoglycaemia occurs. Thus sufferers suffer from the typical symptoms of hypoglycaemia. In addition to tremors and sweating, for example, heart palpitations or palpitations may be caused by hypoglycaemia. Also cravings and paleness are typical symptoms.
In severe hyperglycaemia, these symptoms may be associated with neurological symptoms. Drowsiness, confusion or speech problems can occur. The same applies to visual disturbances, emotional disorders, psychoses and atypical behavior. Dizziness and headaches can also accompany the hypoglycaemia.
If the sugar level continues to fall and reaches extreme levels, unconsciousness or even coma may occur. In most cases of nesidoblastosis there is no mild, but extremely severe hypoglycaemia, which clinically impresses with all of the above symptoms.
Diagnosis & disease course
The diagnosis of nesidioblastosis poses a challenge to the physician. For example, the neurological symptoms in adults make it easy to think of a neurological disorder or stroke. If the association with hypoglycaemia has been established, it still does not automatically mean that the patient is being diagnosed with nesidioblastosis.
The presentation of the enlarged pancreas may at least lead to a suspected diagnosis of nesidioblastosis. A biopsy usually provides final information and secures the diagnosis. The diagnosis is simpler if the hereditary disease in the family is already known. So the doctor can fall on the clinical picture after the anamnesis.
Nesidioblastosis is a serious disease. In the worst case, this can also lead to the death of the person affected, so that the patient definitely needs treatment. First and foremost, patients suffer from a significantly enlarged pancreas. Furthermore it comes to tachycardia and often also to cravings. Those affected suffer from sweating and tremors and thus a significantly reduced quality of life.
It also causes dizziness and disturbances of concentration and coordination. Also, paralysis and other disorders of sensitivity can occur due to nesidioblastosis and complicate the patient's everyday life. Furthermore, the nesidioblastosis leads to a coma or a loss of consciousness of the patient. If the disease is not treated, it usually leads to the death of the person affected.
The treatment of this disease takes place with the help of medication. There are no complications. However, a guaranteed positive course of the disease can not always be predicted. As a rule, the pancreas of the affected person must be removed. Also, the life expectancy of the patient is reduced due to the disease in most cases.
When should you go to the doctor?
If nesidioblastosis has already been diagnosed in the family, the offspring should always be genetically examined. Thus, it is possible to react in advance to the possible illness and to prepare a treatment plan.
For complaints such as dizziness, gait insecurity, headache or a general malaise, a doctor should be consulted. Heavy sweating, limb tremors, or an unplanned weight change are signs of health impairment that should be investigated and treated. If it comes to swelling of the upper body, a feeling of tightness inside the body or a general malaise, a doctor should be consulted. If various dysfunctions occur, a disturbance in digestion is perceived or the person suffering from food cravings, should visit a doctor. Irregularities of the heart rhythm, tachycardia or feelings of anxiety are signs of the organism for an existing illness. If the symptoms persist for an extended period of time or if they increase in intensity, a doctor is needed.
Disorientation, dizziness or confusion should be clarified by a doctor. They indicate disturbances of memory activity, where action is required. Interruptions of the language flow are also considered to be of concern and must be investigated. In case of an acute health-threatening condition an emergency physician should be alerted and first aid measures should be carried out.
Therapy & Treatment
Causal therapy is not yet available for patients with nesidioblastosis. The disease is a genetic disease based on a mutation. For this reason, it could at most be cured by gene therapy approaches. These approaches are currently being researched but have not yet reached the clinical phase. Therefore, at present, nesidioblastosis is treated only symptomatically.
The symptomatic treatment corresponds primarily to a reduction in hypoglycemia. To increase the blood sugar, there are various options to choose from, all of which can be described as conservative therapy steps. Mostly the treatment consists of a combination of dietary measures and medical steps.
In addition to the administration of somatostatin analogues or nifedipine, the administration of diazoxide, for example, may be an option for drug therapy. This therapy step is supplemented by a leucine-reduced diet. Many of the patients do not respond adequately to the drugs mentioned or to the diet.
For these patients, the main treatment measure is a subtotal pancreatic resection. This surgery seems to be curative in many cases. If the pancreas is insufficiently surgically resected, recurrences almost always occur. To eliminate the cause of the disease, the pancreas must either be replaced or at least be removed up to 90 percent.
However, with a resection rate of around 90 percent, patients are at high risk of developing diabetes mellitus after resection. For this reason, after a resection in centers that are aligned with it, monitoring of the blood sugar must always take place.
Outlook & Forecast
Since nesidioblastosis is a genetic disease, the person concerned must learn to live with it and integrate various measures into their daily lives. The permanent drug treatment counteracts hypoglycaemia. Thus, the daily intake of the drugs is vital to the patient.
In addition, the dietary measures prescribed by the doctor must be strictly adhered to. This requires adequate education and a complete diet change for nesidioblastosis sufferers. Many patients respond well to the mentioned medication and dietary measures and thus have a good prognosis to get the disease under control and to learn to live with it. If nesidioblastosis has been treated surgically, and diabetes has developed as a result of diabetes mellitus, the person concerned must also adhere to strict diets for a lifetime.
Nesidioblastosis severely restricts the daily lives of sufferers. Even with the treatment methods mentioned above, it is important for patients to avoid stress and physical exertion for a lifetime and to diet. It is also necessary to keep an eye on the person's blood sugar. Likewise, close medical checks must be planned permanently. The prospect of a full recovery is unfortunately not given. Learning to live with the disease and integrating it into everyday life are essential for a high degree of freedom from symptoms.
Nesidioblastosis can not be successfully prevented because the disease is a genetic and familial disease. Genetic counseling can be broadly referred to as a precautionary measure.
Among other things, medical follow-up aims to inhibit the recurrence of a disease. However, since genetic causes are responsible for nesidioblastosis, a causal cure is ruled out. Only the complaints can be remedied by a long-term treatment. This means that the aftercare of nesidioblastosis has different goals than, for example, tumors. These at least have the chance that they disappear for a short or long time.
The treatment is usually with medication. Also a diet is stimulated. Doctors promise by consistently carrying out the absence of symptoms. Doctor and patient speak a rhythm to follow-up checks. The effectiveness of the medication should be checked as well as the avoidance of complications.
Imaging procedures and a blood analysis provide clarity about the progression of the disease. Aftercare accumulates if the therapy chosen does not produce the desired effect. Then the question of a surgical procedure arises.
At the end of a follow-up is advisable, because often form recurrences. There is also an increased likelihood of developing diabetes mellitus, leading to further treatment. Basically, Nesidioblastosis requires a change in dietary habits, which are discussed in a consultation.
You can do that yourself
Nesidioblastosis is a serious condition that needs to be treated in any case. Diseased people can support the therapy by maintaining a balanced diet. It is important to avoid high-fat foods and to eat many foods rich in vitamins. Foods with amino acids should be consumed in reduced amounts. In addition, should be dispensed with alcohol, caffeine and other stimulants.
To counteract hypoglycaemia, sugar may only be consumed in moderation. The doctor will also prescribe rest and relaxation. Stress and physical exertion can increase the typical symptoms and should therefore be avoided. Because nesidioblastosis is a disease that can cause hypoglycaemia and other diseases, close medical monitoring is necessary. Affected persons should also create a complaint diary and note any symptoms and complaints. If the above measures are not effective, the doctor must be informed.
Parents of affected children may seek therapeutic support due to the great mental stress associated with the disease. Physical complaints such as shortness of breath and nervousness can be alleviated by physiotherapy and sports.