familial hyperinsulinemic hypoglycemia 5

Familial hyperinsulinism, ABCC8-related is an inherited condition that causes low blood sugar levels (hypoglycemia). This condition is characterized by the unregulated release of insulin, leading to abnormally low glucose levels in the blood.

Causes and Characteristics:

• Inherited condition
• Causes hypoglycemia due to unregulated release of insulin
• Can lead to frequent states of low blood sugar

Symptoms and Effects:

• Frequent episodes of hypoglycemia
• Abnormality of the endocrine system, specifically hyperinsulinemic hypoglycemia
• Pancreatic islet-cell hyperplasia (an abnormal growth of cells in the pancreas)

The condition is often inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. It's essential for individuals with this condition to work closely with their healthcare providers to manage and prevent episodes of hypoglycemia.

References: [5] Familial hyperinsulinism, ABCC8-related is an inherited condition that causes low blood sugar levels (hypoglycemia). [6] What is familial hyperinsulinism? Familial hyperinsulinism is an inherited disease characterized by hypoglycemia due to unregulated release of insulin. [8] Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the ...

Common Signs and Symptoms of Familial Hyperinsulinemic Hypoglycemia

Familial Hyperinsulinemic Hypoglycemia (FHH) is a rare disease characterized by excessive insulin secretion from pancreatic β-cells. The signs and symptoms of FHH can vary in severity and may include:

• Excessive hunger: This is one of the most common symptoms, as the body tries to compensate for the low blood sugar levels.
• Irritability: People with FHH may become easily agitated or irritable due to the fluctuations in blood sugar levels.
• Lethargy: A lack of energy and fatigue can be a symptom of FHH, especially if left untreated.
• Sleepiness: Some people may experience excessive sleepiness or drowsiness as their body tries to conserve energy.
• Rapid heart rate: An increased heart rate can be a sign that the body is trying to compensate for low blood sugar levels.

It's essential to note that these symptoms can be non-specific and may resemble those of other conditions. A proper diagnosis by a healthcare professional is necessary to confirm FHH.

References: [7] Familial Hyperinsulinemic Hypoglycemia (FHH) is a very rare disease characterized by excessive insulin secretion from pancreatic β-cells... [8] Hyperinsulinemic hypoglycemia (HH) is characterized by the inappropriate secretion of insulin from pancreatic β-cells and is a major cause of hypoglycemic episodes in infants and young children.

Based on the provided context, here are some diagnostic tests for familial hyperinsulinemic hypoglycemia:

• Laboratory findings at the time of hypoglycemia: Blood sugar (BS) levels and glucagon stimulation test can provide clues to diagnosis [5].
• Genetic testing: Molecular genetics tests such as methylation analysis, mutation scanning of the entire coding region, and sequence analysis of the entire coding region can be used

Treatment Options for Familial Hyperinsulinism, ABCC8-related

Familial hyperinsulinism is a rare genetic disorder that causes the pancreas to produce excess insulin, leading to severe and persistent hypoglycemia. The treatment options for this condition include:

• Special Diet: A special diet may be recommended to manage blood sugar levels and prevent hypoglycemic episodes.
• Medications: Medications such as diazoxide or chlorothiazide may be prescribed to help regulate insulin production and improve glucose control.
• Surgical Intervention: In some cases, surgical intervention may be necessary to remove a portion of the pancreas that is producing excess insulin.

It's essential to note that each individual with familial hyperinsulinism may require a unique treatment plan, taking into account their specific needs and medical history. A healthcare professional should be consulted for personalized guidance on managing this condition.

References:

• Treatment for familial hyperinsulinism includes a special diet, medications, and surgical intervention [5].
• If an infant shows symptoms of familial hyperinsulinism, treatment may involve a combination of these options [8].

The differential diagnosis for familial hyperinsulinemic hypoglycemia involves considering various conditions that can cause similar symptoms.

• Hyperinsulinism: This is a condition characterized by an excessive production of insulin, leading to low blood sugar levels (hypoglycemia) [1].
• Inborn metabolic errors: These are genetic disorders that affect the body's ability to metabolize glucose and other nutrients, leading to hypoglycemia [2].
• Glycogen storage disease type 0 (GSD 0): This is a rare genetic disorder characterized by an inability to break down glycogen, leading to postprandial hyperglycemia, elevated lactates, and postprandial hyperketotic hypoglycemia [8].
• Congenital hyperinsulinism: This is a condition characterized by inappropriate insulin secretion, leading to persistent and recurrent hypoglycemia in infancy [10].

It's worth noting that the diagnosis of familial hyperinsulinemic hypoglycemia requires a comprehensive evaluation, including clinical presentation, laboratory tests, and genetic analysis.

References: [1] - Context 5 [2] - Context 2 [8] - Context 8 [10] - Context 10