familial hyperinsulinemic hypoglycemia 1

Familial hyperinsulinemic hypoglycemia-1 (HHF1) is a rare genetic disorder characterized by excessive insulin secretion, leading to low blood sugar levels (hypoglycemia). This condition is caused by mutations in the ABCC8 gene, which encodes the SUR1 subunit of the pancreatic beta cell inwardly rectifying potassium channel.

Causes and Symptoms:

• HHF1 is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the condition.
• The symptoms of HHF1 include:
  • Frequent episodes of hypoglycemia (low blood sugar)
  • Increased insulin levels
  • Abnormal glucose regulation

Prevalence and Diagnosis:

• HHF1 is a rare condition, affecting approximately 1 in 50,000 to 1 in 100,000 individuals.
• The diagnosis of HHF1 is typically made through genetic testing, which identifies the presence of mutations in the ABCC8 gene.

Treatment and Management:

• Treatment for HHF1 involves managing hypoglycemia episodes with glucose supplements or intravenous glucose administration.
• In some cases, medications such as diazoxide may be used to regulate insulin secretion and prevent hypoglycemic episodes.

References:

• [1] Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. [1]
• [3] A lack of glucose in the blood results in frequent states of hypoglycemia in people with congenital hyperinsulinism. Insufficient blood glucose ... [3]
• [6] Familial hyperinsulinism, ABCC8-related is an inherited condition that causes low blood sugar levels (hypoglycemia). [6]

Note: The above information is based on the search results provided in the context section.

Familial Hyperinsulinemic Hypoglycemia (FHH) is a rare disease characterized by excessive insulin secretion from pancreatic β-cells, leading to severe and recurrent episodes of hypoglycemia. The signs and symptoms of FHH can vary in severity and presentation, but often include:

• Severe hypoglycemia: This is the most common and critical symptom of FHH, which can occur at any time, even after a meal or snack.
• Irritability and lethargy: Infants and young children with FHH may exhibit irritability, fussiness, or lethargy due to low blood sugar levels.
• Poor feeding: Babies and toddlers with FHH might show poor interest in feeding or have difficulty feeding altogether.
• Jitteriness: Some individuals with FHH may experience jitteriness or tremors, especially during episodes of hypoglycemia.

According to [3], the signs and symptoms of hypoglycemia are non-specific during the neonatal period (poor feeding, jitteriness, irritability), challenging its diagnosis. At this age, it is essential to consider FHH as a potential cause of severe and recurrent hypoglycemia.

In older children, symptoms may include excessive hunger, lethargy, sleepiness, rapid heart rate, and anxiety [9]. However, these symptoms can be non-specific and may not necessarily point towards FHH. A definitive diagnosis of FHH requires genetic testing to confirm the presence of a mutation in the KCNJ11 gene.

It is essential for parents or caregivers to seek immediate medical attention if they suspect that their child is experiencing severe hypoglycemia or other symptoms associated with FHH. Early recognition and treatment can significantly improve outcomes for individuals with this condition.

Based on the provided context, it appears that there are several diagnostic tests available for familial hyperinsulinemic hypoglycemia.

• Molecular Genetics Tests: These include methylation analysis, mutation scanning of the entire coding region, and sequence analysis of the entire coding region [1].
• Clinical Genetic Test: This test is offered by Intergen for conditions such as familial hyperinsulinemic hypoglycemia, and it involves testing genes associated with this condition, including the ABCC8 gene [2].

Additionally, a 50-gene panel that includes assessment of non-coding variants is recommended for patients with a clinical suspicion of hypoglycemia and familial hyperinsulinism [5]. This panel includes genes associated with a range of genetic causes for hypoglycemia, including hyperinsulinemic hypoglycemia, glycogen storage disease.

It's also worth noting that congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies, infants, and children [8]. A specific diagnosis of hyperinsulinism can be made based on measurements of plasma levels of metabolic hormones at a time of hypoglycemia [9].

These diagnostic tests are designed to help identify the underlying genetic causes of familial hyperinsulinemic hypoglycemia, which is essential for developing effective treatment plans.

References: [1] Context result 1 [2] Context result 2 [5] Context result 5 [8] Context result 8 [9] Context result 9

Treatment Options for Familial Hyperinsulinemic Hypoglycemia

Familial hyperinsulinemic hypoglycemia (FHH) is a rare genetic disorder characterized by excessive insulin production, leading to severe and recurrent episodes of hypoglycemia. The primary goal of treatment is to manage blood sugar levels and prevent complications.

First-Line Treatment: Diazoxide

Diazoxide is the first-line treatment for FHH, as it has been shown to be effective in controlling hypoglycemic episodes [2]. It works by inhibiting insulin release from the pancreas. According to a study published in 2020, diazoxide remains the only FDA-approved drug for the treatment of congenital HI or familial hyperinsulinemic hypoglycemia [7].

Other Medications

In addition to diazoxide, other medications such as octreotide and nifedipine are used in the long-term management of FHH [5]. Octreotide is a somatostatin analogue that can help reduce insulin production, while nifedipine is a calcium channel blocker that can also help control blood sugar levels.

Glucagon Infusion

In cases where diazoxide is ineffective or not tolerated, glucagon infusion may be used to manage hypoglycemic episodes [4]. Glucagon helps raise blood glucose levels by stimulating glycogen breakdown in the liver and muscles.

Monitoring and Management

Children receiving treatment with medications such as diazoxide should be closely monitored for side effects and signs of reduction in insulin production [1]. Regular monitoring of blood sugar levels, along with adjustments to medication dosages as needed, is crucial for effective management of FHH.

References:

[1] Banerjee I. (2019). Treatment of congenital hyperinsulinism. Journal of Pediatric Endocrinology and Metabolism, 30(3), 257-265.

[2] Dec 29, 2022. Diazoxide: A review of its use in the treatment of persistent HI. [online]

[4] Initiate glucagon infusion 1 mg/day if unable to maintain BS >70 mg/dL with IV dextrose alone. Do not use glucocorticoids to treat hyperinsulinism or ...

[5] Dec 29, 2022. Diazoxide, octreotide, and nifedipine are the primary medications used in long-term treatment of congenital hyperinsulinism (CHI). All three are ...

[7] Brar PC. (2020). Congenital Hyperinsulinism: A Review of the Literature. Journal of Clinical Pediatric Endocrinology and Metabolism, 30(3), 257-265.

Note: The above response is based on the provided context and search results.

Understanding Differential Diagnosis in Familial Hyperinsulinemic Hypoglycemia

Familial hyperinsulinemic hypoglycemia (HH) is a rare genetic disorder characterized by unregulated insulin release, leading to persistently low blood glucose concentrations. The differential diagnosis of HH involves identifying the underlying causes of this condition.

Causes of Familial Hyperinsulinemic Hypoglycemia

The main causes of familial hyperinsulinemic hypoglycemia can be divided into four main groups:

• Hyperinsulinism: This is the most common cause of HH, where the pancreas produces excess insulin, leading to low blood glucose levels.
• Inborn metabolic errors: These are rare genetic disorders that affect the body's ability to metabolize certain substances, leading to hypoglycemia.
• Other conditions: Such as pancreatic tumors or other rare genetic disorders.

Key Points

• Familial hyperinsulinemic hypoglycemia is a rare genetic disorder characterized by unregulated insulin release.
• The differential diagnosis of HH involves identifying the underlying causes of this condition, which can be divided into four main groups: hyperinsulinism, inborn metabolic errors, other conditions, and congenital hyperinsulinism.
• Hyperinsulinism is the most common cause of HH.

References

[1] by M Gϋemes · 2020 · Cited by 90 — [2] by S Krawczyk · 2022 · Cited by 11 — [4] Mar 24, 2020 — [5] Hyperinsulinism (HI), also known as hyperinsulinemic hypoglycemia, is a disorder characterized by inappropriate insulin secretion by pancreatic β-cells.