In nesidioblastosis, the pancreas enlarges in the form of islet cell hyperplasia, causing severe hypoglycemia with neurologic symptoms in the patient. The disease is hereditary and is caused by a mutation in the gene locus p15.1 on chromosome 11. Therapy is conservative or resection.
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. The pancreas contains the so-called islets of Langerhans, which correspond to endocrine cell collections for carbohydrate metabolism. 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 accompanying symptoms of the disease include visual disturbances, speech disorders, and confusion, giving islet cell hyperplasia a clinically similar picture to stroke. The familial form of the disease often causes severe hypoglycemia to develop even in newborns, which can persist into adulthood. Especially in adulthood, the physician usually does not first think of nesidioblastosis with the symptoms described.
Causes
The hereditary form of nesidioblastosis is caused by a genetic mutation. The locus of the mutation has now been identified as gene locus p15.1 on chromosome 11. The gene defect causes focal or diffuse proliferation of islet cell tissue in the pancreas. The focal form causes focal adenomatous hyperplasia. In the diffuse form, all beta cells in the islets of Langerhans hypertrophy. The accompanying symptoms of hypoglycemia are a natural consequence of the hypertrophy and thus correspond to an indirect consequence of the genetic mutation. Familial clustering has been observed for nesidioblastosis. Thus, the disease is hereditary and apparently does not occur sporadically. Because of the leading symptom of hypoglycemia, the diagnosis of familial nesidioblastosis is often difficult. A genetic mutation is rarely thought to be involved in hypoglycemia. Nevertheless, islet cell hyperplasia is the most common cause of symptoms of severe hypoglycemia, especially in young children.
Symptoms, complaints, and signs
Patients with nesidioblastosis present with an enlarged pancreas as a leading symptom. Accompanying symptoms include hypoglycemia with the proliferation of the cells. Thus, the affected persons suffer from the typical symptoms of hypoglycemia. In addition to trembling and sweating, heart palpitations or palpitations may result from hypoglycemia. Cravings and pallor are also typical symptoms. In severe hyperglycemia, these symptoms may be associated with neurological symptoms. Drowsiness, confusion or speech disorders may occur. The same is true for visual disturbances, sensory disturbances, psychosis, and atypical behaviors. Dizziness and headaches may also accompany hypoglycemia. If sugar levels continue to fall and reach extreme levels, unconsciousness or even coma may occur. In most cases of nesidoblastosis, hypoglycemia is not mild but extremely severe, clinically presenting with all of the above symptoms.
Diagnosis and course of the disease
Diagnosis of nesidioblastosis presents a challenge to the physician. In adults, for example, the neurologic symptoms easily lead him or her to think of neurologic disease or stroke. Once the link with hypoglycemia has been established, it still does not automatically mean that the patient is diagnosed with nesidioblastosis. Imaging of the enlarged pancreas may result in at least a tentative diagnosis of nesidioblastosis. A biopsy usually provides definitive information and confirms the diagnosis. The diagnosis is easier if the hereditary disease is already known in the family. Thus, the physician can already fall on the clinical picture after the anamnesis.
Complications
Nesidioblastosis is a serious disease. In the worst case, this can also lead to the death of the affected person, so the patient is definitely dependent on treatment.First and foremost, patients suffer from a significantly enlarged pancreas. Furthermore, there is palpitations and often also ravenous appetite. Those affected suffer from sweating and trembling and thus a significantly reduced quality of life. There is also drowsiness and disturbances in concentration and coordination. Paralysis and other disturbances of sensitivity may also occur due to nesidioblastosis, making the patient’s daily life more difficult. Furthermore, nesidioblastosis leads to 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 medications. No complications occur in this process. However, a guaranteed positive course of the disease cannot always be predicted. As a rule, the pancreas of the affected person must be removed. The patient’s life expectancy is also reduced in most cases due to the disease.
When should you see a doctor?
If nesidioblastosis has already been diagnosed in the family, the offspring should always be genetically tested. In this way, the possible disease can be addressed in advance and a treatment plan drawn up. A doctor should be consulted if symptoms such as dizziness, unsteady gait, headaches or a general feeling of illness occur. Heavy sweating, trembling of the limbs or an unplanned change in weight are signs of a health condition that should be investigated and treated. If there is swelling of the upper body, a feeling of tightness inside the body, or general malaise, a physician should be consulted. If various dysfunctions occur, if a disturbance of the digestion is noticed or if the affected person suffers from food cravings, a visit to the doctor should be made. Irregularities of the heart rhythm, palpitations or anxiety are signs of an existing disease. If the symptoms persist over a longer period of time or increase in intensity, a doctor is needed. Disorientation, drowsiness or confusion should be clarified by a doctor. They indicate disturbances of the memory activity for which action is required. Interruptions in the flow of speech are also considered worrisome and need to be investigated. In the event of an acute health-threatening condition, an emergency physician should be alerted and first aid should be administered.
Treatment and therapy
Causal therapy is not yet available for patients with nesidioblastosis. The disease is a genetic disorder 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 the present time, nesidioblastosis is treated exclusively symptomatically. Symptomatic treatment corresponds mainly to a decrease in hypoglycemia. Several options are available to increase blood glucose, all of which can be described as conservative therapeutic steps. In most cases, treatment consists of a combination of dietary measures and drug steps. In addition to the administration of somatostatin analogues or nifedipine, drug therapy may also include the administration of diazoxide, for example. This therapeutic step is supplemented by a leucine-reduced diet. Many patients do not respond adequately either to the drugs mentioned or to the dietary measures. For these patients, the most important therapeutic measure corresponds to a subtotal pancreatic resection. This surgical intervention seems to be initially curative in many cases. Inadequate surgical resection of the pancreas almost always results in recurrence. To eliminate the cause of the disease, the pancreas must either be replaced or at least up to 90 percent removed. However, with a resection rate around 90 percent, patients run a high risk of developing diabetes mellitus after resection. For this reason, blood glucose monitoring must always follow resection in centers equipped to do so.
Outlook and prognosis
Because nesidioblastosis is a genetic disease, the affected person must learn to live with it and integrate various measures into his or her daily routine. Permanent drug treatment counteracts hypoglycemia.Thus, the daily intake of the drugs is vital for the patient. In addition, the dietary measures prescribed by the physician must be strictly adhered to. This requires sufficient education and a complete change of diet for the person suffering from nesidioblastosis. Many patients respond well to the above-mentioned medicinal and dietary measures and thus have a good prognosis of getting the disease under control and learning to live with it. If nesidioblastosis has been treated surgically and diabetes mellitus has developed as a result, the affected person must also adhere to strict diets for the rest of his or her life. Nesidioblastosis massively restricts the everyday life of the sufferer. Even with the above-mentioned treatment methods, patients must avoid stress and physical exertion and maintain a diet throughout their lives. It is also necessary to keep a constant eye on the patient’s blood sugar. Close medical check-ups must also be scheduled on a permanent basis. Unfortunately, there is no prospect of a complete recovery. Learning to live with the disease and integrating it into everyday life are necessary for extensive freedom from symptoms.
Prevention
Nesidioblastosis cannot be successfully prevented because the disease is genetic and familial. Genetic counseling can be considered a preventive measure in the broadest sense.
Follow-up
One of the purposes of medical follow-up is to inhibit the recurrence of disease. However, because 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, for tumor diseases. In the case of the latter, there is at least a chance that they will disappear for a short time or permanently. The treatment is usually carried out with medication. Diet is also suggested. Doctors hope that consistent implementation will result in the absence of symptoms. Physician and patient agree on a rhythm for progress controls. The aim is to check the effectiveness of the medication and to prevent complications. Imaging procedures and a blood analysis provide clarity about the progress of the disease. Follow-up care accumulates if the chosen therapy does not have the desired effect. Then the question of a surgical intervention arises. Follow-up care is also advisable at the end of surgery, because recurrences are not uncommon. There is also an increased likelihood of developing diabetes mellitus, which entails further treatment. Basically, nesidioblastosis requires a change in dietary habits, which are addressed in a consultation.
What you can do yourself
Nesidioblastosis is a serious disease that requires medical treatment in any case. Sufferers can support the therapy by maintaining a balanced diet. It is important to avoid fatty foods and to eat many foods rich in vitamins. Foods containing amino acids should be consumed in reduced quantities. In addition, alcohol, caffeine and other stimulants should be avoided. To counteract hypoglycemia, sugar should be consumed only in moderate amounts. The doctor will also prescribe rest and relaxation. Stress and physical exertion can aggravate the typical symptoms and should therefore be avoided. Since nesidioblastosis is a disease that can result in hypoglycemia and other illnesses, close medical monitoring is necessary. Affected individuals should also keep a complaint diary and note any symptoms and complaints in it. If the above measures have no effect, the doctor must be informed. Parents of affected children can seek therapeutic support due to the great psychological stress associated with the disease. Physical complaints such as shortness of breath and nervousness can be alleviated by physiotherapy and sport.
