In nesidioblastosis, the pancreas enlarges in the form of islet cell hyperplasia and causes severe hypoglycaemia with neurological symptoms in the patient. The disease is hereditary and is due to a mutation in the gene locus p15.1 on chromosome 11. Treatment is conservative or by resection.
What is nesidioblastosis?
Hyperplasia is a group of diseases associated with an enlargement of certain tissues or organs. The reason for the increase in size is an increase in the number of cells. The pancreas contains the so-called islets of Langerhans, which correspond to endocrine cell accumulations for carbohydrate metabolism. See phonecations for All You Need to Know About Lesch-Nyhan Syndrome.
A hereditary hyperplasia of the islet cells is the so-called nesidioblastosis. The disease is also called persistent hyperinsulinemic hypoglycemia and manifests in infancy. Islet cell hyperplasia primarily causes neuroglucopenic symptoms and is considered a common cause of hypoglycemia. The main neurological symptoms associated with the disease include visual disturbances, speech disturbances and confusion, which give islet cell hyperplasia a clinical picture similar to that of a stroke.
The familial form of the disease often causes severe hypoglycemia in newborns, which can persist into adulthood. Especially in adulthood, the doctor usually does not think of nesidioblastosis when the symptoms are described.
The hereditary form of nesidioblastosis is caused by a genetic mutation. The p15.1 gene locus on chromosome 11 has now been identified as the mutation locus. The genetic defect leads to a focal or diffuse proliferation of islet cell tissue in the pancreas. The focal form produces focal adenomatous hyperplasia. In the diffuse form, all beta cells in the islets of Langerhans hypertrophy.
The accompanying symptoms of hypoglycaemia are a natural consequence of hypertrophy and thus correspond to an indirect consequence of the genetic mutation. Familial aggregation has been observed for nesidioblastosis. The disease is therefore hereditary and does not appear to occur sporadically.
Because of the main symptom of hypoglycaemia, the diagnosis of familial nesidioblastosis is often difficult. A genetic mutation is assumed in hypoglycaemia in the rarest of cases. Nevertheless, islet cell hyperplasia is the most common cause of symptoms of severe hypoglycemia, especially in young children.
Symptoms, Ailments & Signs
Patients with nesidioblastosis show an enlarged pancreas as the main symptom. Accompanying symptoms occurs with the proliferation of cells on hypoglycaemia. Those affected suffer from the typical symptoms of hypoglycemia. In addition to trembling and sweating, for example, palpitations or palpitations can be caused by hypoglycaemia. Cravings and paleness are also typical symptoms.
In severe hyperglycemia, these symptoms may be associated with neurological symptoms. Drowsiness, confusion, or speech disturbances may occur. The same applies to visual disturbances, sensory disturbances, psychosis and atypical behavior. Dizziness and headaches can also accompany low blood sugar.
If glucose levels continue to fall and reach extreme levels, unconsciousness or even coma can occur. In most cases of nesidoblastosis, the hypoglycaemia is not mild, but extremely severe, which impresses clinically with all of the symptoms mentioned.
Diagnosis & course of disease
The diagnosis of nesidioblastosis presents the doctor with a challenge. In adults, for example, the neurological symptoms easily make him think of a neurological disease or a stroke. If the link to hypoglycemia has been made, it still does not automatically mean that the patient will be diagnosed with nesidioblastosis.
The visualization of the enlarged pancreas can at least result in a suspected diagnosis of nesidioblastosis. A biopsy usually provides definitive information and secures the diagnosis. The diagnosis is easier if the hereditary disease is already known in the family. In this way, the doctor can already identify 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 concerned, so that the patient is dependent on treatment in any case. Patients primarily suffer from a significantly enlarged pancreas. There is also palpitations and often cravings. Those affected suffer from sweating and tremors and thus a significantly reduced quality of life.
There is also drowsiness and problems with concentration and coordination. Paralysis and other sensory disorders can also occur due to nesidioblastosis and make everyday life difficult for the patient. Nesidioblastosis also leads to a coma or loss of consciousness in the patient. If the disease is not treated, it usually leads to the death of the affected person.
The treatment of this disease is carried out with the help of drugs. There are no complications. However, a guaranteed positive course of the disease cannot always be predicted. Usually, the patient’s pancreas has to be removed. The life expectancy of the patient is also reduced in most cases due to the disease.
When should you go to the doctor?
If nesidioblastosis has already been diagnosed in the family, the offspring should always be genetically examined. In this way, a reaction to the possible illness can be made in advance and a treatment plan can be drawn up.
If you have symptoms such as dizziness, unsteady gait, headaches or a general feeling of illness, you should consult a doctor. Excessive sweating, tremors in the limbs, or an unplanned change in weight are signs of a health condition that should be investigated and treated. If you experience upper body swelling, tightness inside your body, or general discomfort, see a doctor. If various functional disorders occur, if a digestive disorder is noticed or if the person concerned suffers from food cravings, a doctor should be consulted. Irregular heart rhythms, tachycardia or feelings of anxiety are signs of the organism for an existing disease. Do the symptoms persist for a long time or do they increase in intensity?
Disorientation, drowsiness or confusion should be checked out by a doctor. They point to disturbances in memory that require action. Disruptions in the flow of speech are also considered a concern and need to be investigated. In the event of an acute health-threatening condition, an emergency doctor must be alerted and first-aid measures should be carried out.
Treatment & Therapy
A causal therapy is not yet available for patients with nesidioblastosis. The condition is a genetic disease based on a mutation. For this reason, it could only be cured by gene therapy approaches. Although these approaches are currently being researched, they have not yet reached the clinical phase. Therefore, at the present time, nesidioblastosis is only treated symptomatically.
The symptomatic treatment corresponds above all to a reduction of the hypoglycaemia. Various options are available for increasing blood sugar, all of which can be described as conservative therapy steps. Treatment usually consists of a combination of dietary measures and medication.
In addition to the administration of somatostatin analogues or nifedipine, the administration of diazoxide, for example, can also be considered for drug therapy. This therapeutic step is supplemented by a leucine-reduced diet. Many of the patients do not respond adequately to either the drugs mentioned or the dietary measures.
For these patients, the most important therapeutic measure is a subtotal pancreatic resection. In many cases, this surgical intervention initially appears to be curative. In the case of insufficient surgical resection of the pancreas, recurrences almost always occur. In order to eliminate the cause of the disease, the pancreas must either be replaced or at least up to 90 percent removed.
With a resection rate of around 90 percent, however, there is a high risk for the patient of developing diabetes mellitus after the resection . For this reason, blood sugar must always be monitored after a resection in centers designed for this purpose.
Outlook & Forecast
Since nesidioblastosis is a genetic disease, the person affected must learn to live with it and integrate various measures into their everyday life. Long-term drug treatment counteracts hypoglycaemia. Thus, the daily intake of the drugs is vital for the patient.
In addition, the dietary measures prescribed by the doctor must be strictly observed. This requires adequate education and a complete change in diet for those suffering from nesidioblastosis. Many patients respond well to the medication and dietary measures mentioned and therefore have a good prognosis for getting the disease under control and learning to live with it. If the nesidioblastosis was treated surgically and diabetes mellitus developed as a result, the affected person must also stick to a strict diet for the rest of their lives.
Nesidioblastosis severely restricts the patient’s everyday life. Even with the treatment methods mentioned, patients should avoid stress and physical exertion and stick to a diet for the rest of their lives. It is also necessary to keep a constant eye on the patient’s blood sugar. Close-meshed medical checks are also to be scheduled on a permanent basis. Unfortunately, there is no prospect of a full recovery. Learning to live with the disease and integrating it into everyday life are necessary for extensive freedom from symptoms.
Nesidioblastosis cannot be successfully prevented because the disease is a genetic and familial disease. Genetic counseling can be described in the broadest sense as a preventive measure.
One of the aims of medical aftercare is to prevent the recurrence of a disease. However, since genetic causes are responsible for nesidioblastosis, a causal cure is impossible. Only the symptoms can be remedied by long-term treatment. This means that follow-up care for nesidioblastosis has different goals than, for example, tumor diseases. With these there is at least a chance that they will disappear temporarily or permanently.
Treatment is mostly with medication. A diet is also encouraged. Doctors promise themselves that the symptoms will not occur if they are carried out consistently. Doctor and patient agree on a schedule for follow-up checks. The effectiveness of the medication should be checked as well as the avoidance of complications should be ensured.
Imaging procedures and a blood analysis provide clarity about the progression of the disease. Follow-up care increases when the chosen therapy does not have the desired effect. Then the question of surgical intervention arises.
Follow-up care is also advisable at the end of this, because it is not uncommon for recurrences to form. There is also an increased likelihood of developing diabetes mellitus, which entails further treatment. Basically, nesidioblastosis requires a change in eating habits, which is discussed in a consultation.
You can do that yourself
Die Nesidioblastose ist eine schwerwiegende Erkrankung, die in jedem Fall ärztlich behandelt werden muss. Erkrankte können die Therapie unterstützen, indem sie eine ausgewogene Diät pflegen. Wichtig ist der Verzicht auf fettreiche Lebensmittel und der Verzehr vieler vitaminreicher Lebensmittel. Speisen mit Aminosäuren sollten in reduzierten Mengen verzehrt werden. Zudem sollte auf Alkohol, Koffein und sonstige Genussmittel verzichtet werden.
To counteract hypoglycaemia, sugar should only be consumed in moderate amounts. The doctor will also prescribe rest and relaxation. Stress and physical exertion can increase the typical symptoms and should therefore be avoided. Since nesidioblastosis is a disease that can lead to hypoglycemia and other diseases, close medical monitoring is necessary. Affected persons should also keep a complaints diary and note any symptoms and complaints in it. If the measures mentioned have no effect, the doctor must be informed.
Parents of affected children can seek therapeutic support due to the great psychological distress associated with the disease. Physical complaints such as shortness of breath and nervousness can be alleviated through physiotherapy and sport.