familial hyperinsulinemic hypoglycemia 4

Familial hyperinsulinemic hypoglycemia 4 (HHF4) is a rare genetic disorder characterized by excessive insulin secretion from pancreatic β-cells, leading to recurrent episodes of hypoglycemia. The clinical features of HHF4 include:

• Hypoglycemic coma
• Mental retardation due to repeated episodes of hypoglycemia
• Seizures

HHF4 is 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.

The excessive insulin secretion in HHF4 leads to a lack of glucose in the blood, resulting in frequent states of hypoglycemia. This can have severe consequences if left untreated, including brain damage and even death.

HHF4 is caused by a homozygous mutation in the gene encoding 3-hydroxyacyl-CoA dehydrogenase (HADH), which plays a crucial role in mitochondrial fatty acid oxidation. This mutation disrupts normal glucose metabolism, leading to the characteristic symptoms of HHF4.

It's worth noting that HHF4 is a very rare disease, and there may be limited information available on this specific condition. However, based on the search results provided, it appears that HHF4 is characterized by severe hypoglycemia, seizures, and intellectual disability due to repeated episodes of hypoglycemia.

References: * [2] Familial hyperinsulinemic hypoglycemia-4 is (HHF4) is caused by homozygous mutation in the gene encoding 3-hydroxyacyl-CoA dehydrogenase (HADH; 601609) on ... * [4] HHF4 clinical features include hypoglycemic coma, mental retardation due to repeated episodes of hypoglycemia, and seizures. * [9] A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that ...

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Based on the provided context, here are some diagnostic tests that may be relevant for familial hyperinsulinemic hypoglycemia 4 (HHF4):

• Genetic testing: Genetic testing can confirm the diagnosis of HHF4 by identifying mutations in the HADH gene. A positive response is a rise of more than 30 mg/dL, indicating increased insulin action [4].
• Mixed meal test or oral glucose tolerance test: These tests can help diagnose postprandial hyperinsulinemic hypoglycemia (HH) and are recommended for patients with recurrent episodes of low blood glucose [10].
• Targeted gene panels, exome, and genome sequencing: Next-generation sequencing has revolutionized the approach to genetic testing for congenital hyperinsulinism, including HHF4. Targeted gene panels, exome, and genome sequencing can help identify mutations in the HADH gene [9].
• Plasma insulin concentration measurement: Measuring plasma insulin concentration can help diagnose HI, especially in newborns or young infants with severe disease. A plasma insulin concentration of more than 14.4 pmol/L (2 μU/mL) in the presence of symptomatic hypoglycemia is indicative of HI [11].
• Pyruvate load or exercise test: These tests may precipitate HH and can be used to diagnose this condition [13].

It's worth noting that a diagnosis of HHF4 should be made by a qualified healthcare professional, taking into account the patient's clinical presentation, medical history, and laboratory results.

References:

[4] - A positive response is a rise of more than 30 mg/dL and indicates increased insulin action. [9] - Next-generation sequencing has revolutionized the approach to genetic testing for congenital hyperinsulinism. [10] - Mixed meal test or oral glucose tolerance test can help diagnose postprandial HH. [11] - Plasma insulin concentration measurement can help diagnose HI in newborns or young infants. [13] - Pyruvate load or exercise test may precipitate HH and can be used to diagnose this condition.

Based on the provided context, it appears that there are various treatment options for familial hyperinsulinemic hypoglycemia.

Treatment Options

• Medical therapy is often the first line of treatment [3].
• Patients with hyperinsulinism may require multiple medications to maintain normoglycemia [3].
• Oral diazoxide is commonly used to treat hypoglycemia, and some authors recommend using chlorothiazide in conjunction with diazoxide for optimal results [5].

Specific Treatment

• Diazoxide treatment was started on day 11, with a satisfying clinical response [9].

Based on the search results, it appears that differential diagnosis for familial hyperinsulinemic hypoglycemia 4 (HH) involves considering various conditions that can present with similar symptoms.

• Insulin autoimmune syndrome (Hirata disease): This condition is mentioned in search result [9] as a potential differential diagnosis for patients with hyperinsulinemic hypoglycemia. It is characterized by the production of autoantibodies against insulin, leading to excessive insulin secretion.
• Other conditions: Search results [3] and [10] mention that hypoglycemia harbors a broad differential diagnosis, suggesting that there are many other conditions that can present with similar symptoms.

To determine the correct diagnosis for familial hyperinsulinemic hypoglycemia 4 (HH), it is essential to consider these potential differential diagnoses and rule them out through further testing and evaluation. This may involve measuring insulin levels, performing genetic tests, and assessing the patient's medical history and physical examination findings.

Key points:

• Insulin autoimmune syndrome (Hirata disease) is a potential differential diagnosis for patients with hyperinsulinemic hypoglycemia.
• Hypoglycemia has a broad differential diagnosis, making it essential to consider multiple conditions when evaluating patients with this symptom.
• A thorough evaluation, including genetic testing and measurement of insulin levels, is necessary to determine the correct diagnosis for familial hyperinsulinemic hypoglycemia 4 (HH).

References:

[9] - Search result mentioning Insulin autoimmune syndrome (Hirata disease) as a differential diagnosis [