familial hyperinsulinemic hypoglycemia 8

Familial hyperinsulinemic hypoglycemia, also known as congenital hyperinsulinism, is a rare genetic disorder that affects the pancreas's ability to regulate blood sugar levels. In individuals with this condition, the pancreas produces excessive amounts of insulin, leading to low blood sugar (hypoglycemia) episodes.

Causes and Symptoms

• The condition is caused by mutations in genes that code for proteins involved in insulin production or regulation.
• Symptoms include frequent episodes of hypoglycemia, which can be triggered by factors such as fasting, exercise, or certain medications.
• Other symptoms may include seizures, developmental delays, and poor growth.

Diagnosis and Treatment

• Diagnosis is typically made through a combination of clinical evaluation, laboratory tests (e.g., glucose monitoring), and genetic testing.
• Treatment options may include dietary changes, medication to regulate blood sugar levels, and in some cases, surgery to remove part of the pancreas or implant an insulin pump.

Prevalence and Prognosis

• Familial hyperinsulinemic hypoglycemia is a rare condition, affecting approximately 1 in 50,000 to 1 in 100,000 individuals.
• With proper treatment and management, many people with this condition can lead normal lives, although some may experience ongoing challenges related to blood sugar regulation.

References

• [2] Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar.
• [4] Familial Hyperinsulinemic Hypoglycemia (FHH) is a very rare disease characterized by excessive insulin secretion from pancreatic β-cells independent of glucose serum level.
• [6] Familial hyperinsulinism, ABCC8-related is an inherited condition that causes low blood sugar levels (hypoglycemia). In a healthy individual, the pancreas secretes a hormone called insulin after eating carbohydrates in response to rising blood sugar.

Manifestations of Hyperinsulinemic Hypoglycemia

The signs and symptoms of hyperinsulinemic hypoglycemia vary by age and severity of the hypoglycemia. In general, most signs and symptoms can be attributed to:

• Effects on the brain: Insufficient glucose (neuroglycopenia) or
• Adrenergic response: The autonomic nervous system's response to hypoglycemia.

A few miscellaneous symptoms are harder to attribute to either of these causes. These manifestations include:

• Poor feeding
• Jitteriness
• Irritability
• Seizures
• Hypotonia (low muscle tone)
• Apnea (pauses in breathing)

These symptoms can be nonspecific during the neonatal period, making diagnosis challenging.

References:

• [8] Manifestations of hyperinsulinemic hypoglycemia vary by age and severity of the hypoglycemia.
• [9] Signs and symptoms of hypoglycemia are non-specific during the neonatal period (poor feeding, jitteriness, irritability), challenging its diagnosis.

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

• Genetic testing: Genetic tests such as those offered by Intergen (context #5) and Blueprint Genetics (context #3) can help identify the genetic cause of familial hyperinsulinemic hypoglycemia. These tests typically involve analyzing genes such as ABCC8 (context #5).
• Hypoglycemia panel: A hypoglycemia panel, such as the one offered by Invitae (context #8), can be used to diagnose and monitor familial hyperinsulinemic hypoglycemia. This panel typically includes genetic testing for genes associated with hypoglycemia.
• Imaging tests: While not directly related to diagnosing familial hyperinsulinemic hypoglycemia, imaging tests such as MRI scans (context #10) or CT scans (context #13) may be used to rule out other conditions that can cause hypoglycemia.

It's worth noting that the diagnosis of familial hyperinsulinemic hypoglycemia typically involves a combination of genetic testing and clinical evaluation. A healthcare professional would need to interpret the results of these tests in conjunction with the patient's medical history and physical examination findings.

References: * Context #3: Blueprint Genetics' Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel * Context #5: Intergen's Clinical Genetic Test for familial hyperinsulinemic hypoglycemia * Context #8: Invitae's Hypoglycemia panel

Treatment Options for Familial Hyperinsulinemic Hypoglycemia

Familial hyperinsulinemic hypoglycemia is a rare genetic disorder that affects the regulation of blood sugar levels. The treatment options for this condition include:

• Special Diet: A special diet may be recommended to manage the symptoms of familial hyperinsulinemic hypoglycemia. This diet typically involves a high-calorie, high-carbohydrate regimen to help regulate blood sugar levels.
• Medications: Medications such as diazoxide and chlorothiazide may be prescribed to help control blood sugar levels and prevent hypoglycemic episodes.
• Surgical Intervention: In some cases, surgical intervention may be necessary to remove or repair the affected pancreatic tissue. This is typically considered for individuals who do not respond to medical therapy.

It's worth noting that each individual with familial hyperinsulinemic hypoglycemia may require a unique treatment plan, and the most effective approach will depend on the specific characteristics of their condition. Consultation with a qualified healthcare professional is essential to determine the best course of treatment.

References:

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

The differential diagnosis for familial hyperinsulinemic hypoglycemia involves considering various causes that can lead to inappropriately high insulin secretion and subsequent hypoglycemia.

• Hyperinsulinism: This is a condition characterized by excessive insulin production, leading to persistent and recurrent hypoglycemia in infancy. It is often caused by mutations in the sulfonylurea receptor gene (1).
• Inborn metabolic errors: These are rare genetic disorders that can affect glucose metabolism, leading to hypoglycemia. Examples include glycogen storage disease type 0 (GSD 0) and other metabolic disorders (8).
• Other causes of neonatal hypoglycemia: Differential diagnosis also includes inborn errors of metabolism, such as galactosemia, hereditary fructose intolerance, and other rare conditions that can cause hypoglycemia (2).

It's essential to note that the differential diagnosis for familial hyperinsulinemic hypoglycemia is broad and requires a comprehensive evaluation to determine the underlying cause.

References: [1] by K Roženková · 2015 [8] The context of search result 8