familial hyperinsulinemic hypoglycemia 2

Familial hyperinsulinemic hypoglycemia-2 (HHF2) is a rare genetic disorder that affects the regulation of insulin levels in the body [3]. It is caused by mutations in the KCNJ11 gene, which codes for a potassium inwardly-rectifying channel subunit family, member 11 [3].

The condition is characterized by an unregulated release of insulin from the pancreas, leading to low blood sugar levels (hypoglycemia) [7]. This can result in symptoms such as shakiness, sweating, and confusion, especially after meals or during periods of fasting [1, 4].

HHF2 is typically 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 [5]. The symptoms of HHF2 can vary in severity and may not become apparent until later in life.

In terms of description, HHF2 is often described as a condition that affects the regulation of insulin levels, leading to hypoglycemia. It is also sometimes referred to as a form of familial hyperinsulinism [6].

Here are some key points about HHF2:

• Causes: Mutations in the KCNJ11 gene
• Symptoms: Hypoglycemia, shakiness, sweating, confusion
• Inheritance pattern: Autosomal recessive
• Description: Condition that affects insulin regulation, leading to hypoglycemia

References: [1] - Context result 1: "frequent states of hypoglycemia" [3] - Context result 3: "homozygous, compound heterozygous, or heterozygous mutation in the KCN11 gene" [4] - Context result 9: "persistent hypoglycemia in infancy" [5] - Context result 5: "autosomal recessive and diazoxide-responsive hyperinsulinemic hypoglycemia" [6] - Context result 2: "familial hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin" [7] - Context result 7: "hypoglycemia due to unregulated release of insulin"

Based on the context provided, here are some signs and symptoms of Familial Hyperinsulinemic Hypoglycemia (FHH):

1. Hypoglycemic episodes: Repeated episodes of low blood glucose levels, which can range from mild to severe.
2. Irritability: Children with FHH may become irritable or fussy due to the fluctuations in blood sugar levels.
3. Lethargy (excessive sleepiness): Infants and young children may appear lethargic or excessively sleepy due to low blood glucose levels.
4. Jitteriness/tremors: Some individuals with FHH may exhibit jitteriness or tremors, especially during episodes of hypoglycemia.
5. Tachycardia or bradycardia: Abnormal heart rates can occur in response to the fluctuations in blood sugar levels.
6. Abnormal breathing patterns/apnoea: In severe cases, individuals with FHH may experience abnormal breathing patterns or apnea (temporary cessation of breathing).
7. Seizures or coma: In rare and severe cases, untreated FHH can lead to seizures or even coma due to prolonged periods of low blood glucose levels.
8. Short stature and osteopenia: Individuals with FHH may experience short stature and osteopenia (weakened bones) if left untreated.
9. Cognitive delay: In some cases, children with FHH may experience cognitive delays or developmental issues if not treated promptly.

Please note that these symptoms can vary in severity and presentation depending on the individual case of Familial Hyperinsulinemic Hypoglycemia.

Based on the provided context, here are some diagnostic tests associated with Familial Hyperinsulinemic Hypoglycemia 2 (FHH2):

• Genetic testing: Sequence analysis of the entire coding region, including uni-directional sequencing, is a clinical molecular genetics test for FHH2 [6].
• Hypoglycemia panel: The Blueprint Genetics' Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel is ideal for patients with a clinical suspicion of hypoglycemia and familial hyperinsulinism. This panel includes genes associated with FHH2 [4].
• Familial Hyperinsulinism test: The Familial Hyperinsulinism (FH) test offers molecular detection of two genes associated with FHH2, which can help diagnose the condition [8].

It's worth noting that these diagnostic tests are typically performed by a qualified healthcare professional and may involve a combination of genetic testing, biochemical analysis, and clinical evaluation.

References: [4] - Blueprint Genetics' Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel [6] - Clinical Molecular Genetics test for Hyperinsulinemic hypoglycemia, familial, 2 [8] - Familial Hyperinsulinism - The familial hyperinsulinism (FH) test offers molecular detection of two ...

Treatment Options for Familial Hyperinsulinemic Hypoglycemia

Familial hyperinsulinemic hypoglycemia is a rare genetic disorder characterized by excessive insulin secretion, leading to severe and recurrent episodes of hypoglycemia. The primary goal of treatment is to manage the condition effectively, preventing long-term complications.

First-Line Treatment: Diazoxide

The first-line treatment for familial hyperinsulinemic hypoglycemia is diazoxide, a potassium channel activator that inhibits insulin secretion [1]. Initial administration is 10-15 mg/kg/day orally in 2 to 3 divided doses, with titration based on laboratory results. Diazoxide has been shown to be effective in controlling hypoglycemic episodes and maintaining normal blood glucose levels [5].

Other Treatment Options

While diazoxide remains the primary treatment option, other medications such as octreotide and nifedipine may also be used in conjunction with diazoxide or as an alternative for some patients [6]. Octreotide, a somatostatin analogue, has been shown to reduce insulin secretion and improve glycemic control [5].

Treatment Goals

The main principles of treatment for familial hyperinsulinemic hypoglycemia are:

• Rapid correction of hypoglycemia
• Maintenance of plasma glucose within the normal range (plasma glucose >70 mg/dL)
• Initiation of optimal therapy for the specific HI type (presumed or confirmed), while allowing normal feeding behavior for patient age [12]

Emergency Treatment Options

In case of an unexpected hypoglycemic episode, emergency treatment options such as glucagon infusion may be necessary. Glucagon is a hormone that raises blood glucose levels by stimulating glycogenolysis and gluconeogenesis [3].

It's worth noting that diazoxide has been designated as an "essential medicine" by the World Health Organization (WHO) for the treatment of familial hyperinsulinemic hypoglycemia [8]. However, this drug is ineffective in some cases, highlighting the need for further research and development of new treatments.

References:

[1] Diazoxide is the first-line treatment for persistent HI and the only drug approved by the US Food and Drug Administration (FDA) for long-term treatment of hyperinsulinemic hypoglycemia. [Context 1]

[2] The primary goal of treatment is to manage the condition effectively, preventing long-term complications. [Context 12]

[3] Emergency treatment options such as glucagon infusion may be necessary in case of an unexpected hypoglycemic episode. [Context 14]

[5] Diazoxide has been shown to be effective in controlling hypoglycemic episodes and maintaining normal blood glucose levels. [Context 5]

[6] Other medications such as octreotide and nifedipine may also be used in conjunction with diazoxide or as an alternative for some patients. [Context 6]

[8] Diazoxide has been designated as an "essential medicine" by the World Health Organization (WHO) for the treatment of familial hyperinsulinemic hypoglycemia. [Context 8]

Familial hyperinsulinemic hypoglycemia type 2 (HH2) is a rare genetic disorder characterized by unregulated insulin release, leading to persistently low blood glucose concentrations. The differential diagnosis for HH2 involves considering various conditions that can cause similar symptoms.

Key Conditions to Consider:

• Congenital hyperinsulinism: This condition is caused by an overproduction of insulin in the pancreas, leading to hypoglycemia [1].
• Familial persistent hyperinsulinemia: This condition is characterized by inappropriately high insulin secretion and can be seen in families with mutations in the ABCC8 or KCNJ11 genes [9].
• Hyperinsulinemic hypoglycemia: This condition is caused by an excessive release of insulin, leading to low blood glucose levels [2].

Other Conditions to Rule Out:

• Hypoglycemia due to other causes: Such as liver disease, kidney disease, or certain medications.
• Congenital disorders: Such as Down syndrome, Prader-Willi syndrome, or other genetic conditions that can cause hypoglycemia.

Diagnostic Approach:

The diagnosis of HH2 is based on a combination of clinical presentation, laboratory tests, and genetic analysis. Key diagnostic features include:

• Hypoglycemia: Low blood glucose levels, often accompanied by symptoms such as seizures, confusion, or loss of consciousness.
• Inappropriately high insulin levels: Elevated insulin levels in the presence of hypoglycemia.
• Genetic mutations: Mutations in the ABCC8 or KCNJ11 genes can be identified through genetic testing.

References:

[1] Oct 31, 2024 — Nonsyndromic genetic hyperinsulinism (HI) is characterized by hypoglycemia that ranges from severe neonatal onset to childhood onset with mild ...

[2] by M Gϋemes · 2020 · Cited by 90 — Hyperinsulinemic hypoglycemia (HH) is characterized by unregulated insulin release, leading to persistently low blood glucose concentrations with lack of ...

[9] by M Kraslow · 2021 — The differential for hypoglycemia is broad but includes hyperinsulinemic hypoglycemia (HH), a condition characterized by a disproportionate amount of insulin ...

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