familial hyperinsulinemic hypoglycemia 7

Familial Hyperinsulinemic Hypoglycemia (HHF) Description

Familial hyperinsulinemic hypoglycemia, also known as HHF, is a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion. This condition leads to low blood sugar levels (hypoglycemia), which can be persistent and recurrent in infants.

Key Features:

• Inappropriate insulin secretion
• Persistent and recurrent hypoglycemia
• Clinically and genetically heterogeneous disorder

HHF is the most common cause of persistent hypoglycemia in infancy, and its molecular basis has been studied extensively. The condition is often associated with pancreatic islet-cell hyperplasia and abnormality of the endocrine system.

Causes and Consequences:

• Defective negative feedback regulation of insulin secretion by low glucose levels
• Pancreatic islet-cell hyperplasia
• Abnormality of the endocrine system

HHF can have significant consequences for affected individuals, including frequent episodes of hypoglycemia, which can lead to serious health complications if left untreated.

References:

• [7] A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion.
• [8] Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the ...

Familial Hyperinsulinemic Hypoglycemia (FHH) is a very rare disease characterized by excessive insulin secretion from pancreatic β-cells [7]. The signs and symptoms of FHH can vary, but they often include:

• Excessive hunger: Due to the low blood sugar levels caused by excess insulin production.
• Irritability: As a result of the body's attempt to compensate for the low blood sugar.
• Lethargy: A feeling of tiredness or fatigue due to the lack of energy from glucose.
• Sleepiness: As the body tries to conserve energy and recover from the hypoglycemic episodes.
• Rapid heart rate: A symptom that can occur as a result of the body's stress response to low blood sugar.

It is essential to note that these symptoms can be non-specific and may not always be present in individuals with FHH. A proper diagnosis by a healthcare professional, such as an endocrinologist or a geneticist, is necessary for accurate identification and management of this condition [7].

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

• Glucagon stimulation test: This test is used to diagnose hyperinsulinism by measuring the body's response to glucagon, a hormone that raises blood sugar levels. [8]
• Laboratory findings at the time of hypoglycemia (BS): Blood sugar levels are measured during episodes of hypoglycemia to help diagnose familial hyperinsulinemic hypoglycemia.
• Genetic testing: Genetic tests, such as those offered by Intergen, can identify genetic mutations associated with familial hyperinsulinemic hypoglycemia, including the ABCC8 gene. [2]
• Imaging studies: While not directly diagnostic for familial hyperinsulinemic hypoglycemia, imaging studies like MRI and CT scans may be used to rule out other conditions that can cause hypoglycemia.

It's worth noting that a comprehensive diagnosis of familial hyperinsulinemic hypoglycemia often involves a combination of these tests, as well as clinical evaluation and family history. [3][6]

References: [2] - Clinical Genetic Test offered by Intergen for conditions (1): Hyperinsulinemic hypoglycemia, familial, 1; Testing genes (1): ABCC8 (11p15.1); [3] - Nov 13, 2023 — Is ideal for patients with a clinical suspicion of hypoglycemia and familial hyperinsulinism. [6] - This test is recommended for patients with a personal or familial history of non-diabetic hypoglycemia. [8] - Clues to diagnosis of hyperinsulinism · Laboratory findings at the time of hypoglycemia (BS ·

Treatment Options for Familial Hyperinsulinemic Hypoglycemia

Familial hyperinsulinemic hypoglycemia (HI) 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 blood sugar levels and prevent brain damage.

First-Line Treatment: Diazoxide

According to the search results [12], 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 use in this condition. It works by inhibiting insulin release from the pancreas, thereby preventing hypoglycemia.

Other Treatment Options

While diazoxide is the primary treatment, other options may be considered depending on individual patient needs [14]. These include:

• Chlorothiazide: This medication can be used in conjunction with diazoxide to enhance its effectiveness.
• Glucocorticoids: Although not typically used for HI, glucocorticoids may be necessary in some cases to manage associated conditions.

Importance of Early Treatment

Early treatment and aggressive prevention of hypoglycemia are crucial in preventing brain damage [13]. A multidisciplinary approach involving endocrinologists, pediatricians, and other specialists is often necessary to ensure optimal management of this complex condition.

References:

[12] Dec 29, 2022 — 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 use in this condition. [14] Dec 29, 2022 — Usually, oral diazoxide is used for the treatment of hypoglycemia. Some authors recommend using chlorothiazide in conjunction with diazoxide for enhanced effectiveness.

Differential Diagnosis of Familial Hyperinsulinemic Hypoglycemia Type 5

Familial hyperinsulinemic hypoglycemia type 5 (OMIM 609968) is a rare genetic disorder characterized by inappropriate insulin secretion leading to severe postprandial hypoglycemia. The differential diagnosis for this condition involves considering other causes of hyperinsulinism and hypoglycemia.

Other Causes of Hyperinsulinism:

• Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies, infants, and children [4].
• Nesidioblastosis is a rare disorder characterized by hyperplasia of the islet cells causing hyperinsulinemic hypoglycemia, primarily affecting neonates [8].
• Congenital hyperinsulinism (CHI) or congenital hyperinsulinemic hypoglycemia (HH) is a disorder of glucose homeostasis due to dysregulated insulin secretion, which can be caused by various genetic mutations [9].

Other Causes of Hypoglycemia:

• Postprandial hyperglycemia, elevated lactates, and postprandial hyperketotic hypoglycemia on oral glucose tolerance test are suggestive of glycogen storage disease type 0 (GSD 0) [7].
• Poorly controlled diabetes is a common cause of hypoglycemia, but it can also be caused by other factors such as medication side effects or liver disease [3].

Key Points to Consider:

• Inappropriate insulin secretion leading to severe postprandial hypoglycemia is the hallmark of familial hyperinsulinemic hypoglycemia type 5.
• Congenital hyperinsulinism, nesidioblastosis, and congenital hyperinsulinic hypoglycemia are other causes of hyperinsulinism that should be considered in the differential diagnosis.
• Postprandial hyperglycemia, elevated lactates, and postprandial hyperketotic hypoglycemia on oral glucose tolerance test can suggest glycogen storage disease type 0 (GSD 0).
• Poorly controlled diabetes is a common cause of hypoglycemia but should be considered in the differential diagnosis.

References:

[4] Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies, infants, and children. [7] Postprandial hyperglycemia, elevated lactates, and postprandial hyperketotic hypoglycemia on oral glucose tolerance test are suggestive of glycogen storage disease type 0 (GSD 0). [8] Nesidioblastosis