obsolete familial hypertriglyceridemia

Familial Hypertriglyceridemia: An Outdated Term

Familial hypertriglyceridemia (FHT) is an outdated term that was previously used to describe a condition characterized by high levels of triglycerides in the blood. However, with advancements in medical knowledge, this term has been replaced by more specific and accurate descriptions.

Current Understanding

The current understanding of familial hypertriglyceridemia is that it is a genetic disorder characterized by the liver overproducing very-low-density lipoproteins (VLDL), leading to increased triglyceride levels [1][2]. This condition is also known as type IV familial dyslipidemia.

Key Features

• Inherited condition featuring moderate-to-severe elevations of serum TGs with normal serum cholesterol levels [3]
• Increased very low-density lipoprotein (VLDL) production, leading to increased triglyceride concentration [4]

References

[1] Familial hypertriglyceridemia is a genetic disorder characterized by hepatic overproduction of very low-density lipoproteins... (Source: #7)

[2] ...also known as type IV familial dyslipidemia, is a genetic disorder characterized by the liver overproducing very-low-density lipoproteins... (Source: #6)

[3] Familial hypertriglyceridaemia (FHT) is an inherited condition featuring moderate-to-severe elevations of serum TGs with normal serum cholesterol levels. (Source: #5)

[4] Result: a laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration (Source: #10)

Based on the provided context, it appears that there are some outdated references to familial hypertriglyceridemia (FHTG). However, I'll provide information on the signs and symptoms of this condition, which may still be relevant in certain contexts.

Common Signs and Symptoms:

• Lipemia Retinalis - a condition in which the retinal veins of the eyes appear "milky" [3]
• Eruptive xanthomas - small, yellowish bumps or patches on the skin [8]
• Abdominal pain [7][9]
• Dyspnea (shortness of breath) [7]
• Amnesia (rarely associated with severe HTG) [7]
• Cutaneous xanthomas and lipemia retinalis in cases

Based on the provided context, it appears that there are several diagnostic tests that were used in the past to diagnose familial hypertriglyceridemia (FHTG), but may be considered obsolete or less relevant today. Here are some of these tests:

• Density-gradient ultracentrifugation: This test was mentioned in search result 7 as a method for isolating and measuring VLDL and IDL, which can be elevated in FHTG.
• Nuclear magnetic resonance spectroscopy: Also mentioned in search result 7, this test is another method for measuring VLDL and IDL levels.
• Beta-quantification or lipoprotein electrophoresis: These tests were mentioned in search result 15 as being required for diagnosing FHTG, but are considered time-consuming and not widely available.

It's worth noting that these tests may still be used in certain situations or by specific healthcare providers, but they may not be the first line of diagnosis for familial hypertriglyceridemia. Modern diagnostic approaches often involve more straightforward blood tests, such as lipid panels (search result 2), and genetic testing (search results 3 and 8).

References:

• Search result 7: Studies that can isolate and measure VLDL and IDL include density-gradient ultracentrifugation and nuclear magnetic resonance spectroscopy. These tests are ...
• Search result 15: Special diagnostic tests such as beta-quantification or lipoprotein electrophoresis are often required and are time consuming and not widely available. ...

Emerging Therapies for Familial Hypertriglyceridemia (FHTG)

Familial hypertriglyceridemia is a rare genetic disorder characterized by extremely high levels of triglycerides in the blood. While there are no specific "obsolete" treatments, some older therapies have been largely replaced by newer, more effective options.

• Niacin: Historically, niacin (vitamin B3) was used to lower triglyceride levels and increase HDL cholesterol. However, its use has declined due to side effects such as flushing and liver damage [1][2]. Niacin can still be used in high doses (1500 mg/d or more) to decrease triglyceride levels by at least 40% and raise HDL cholesterol levels by 40% or more [3].
• Fibric Acid Derivatives: These medications, such as fenofibrate, were once commonly used to lower triglycerides. However, their use has decreased due to concerns about liver toxicity and the availability of newer options [4][5].
• Omega-3 Fatty Acids: While not a traditional "drug" treatment, omega-3 fatty acids have been shown to be effective in lowering triglyceride levels. They are often used as an adjunct therapy to other treatments.

Newer Therapies

More recent studies have focused on emerging therapies for FHTG, including:

• Apolipoprotein C-III Inhibitors: These medications, such as volanesorsen, target the apolipoprotein C-III protein that plays a key role in triglyceride metabolism [6][7].
• Other Investigational Therapies: Researchers are also exploring other potential treatments for FHTG, including gene therapy and small molecule inhibitors.

Current Treatment Guidelines

The most recent treatment guidelines suggest considering three drug classes (fibrates, niacin, n-3 fatty acids) alone or in combination with statins as treatment options in patients with severe hypertriglyceridemia [8].

In summary, while some older therapies for familial hypertriglyceridemia are still used today, newer emerging treatments have become the focus of research and clinical practice.

References:

[1] Goyal A. Emerging and investigational therapies for FHTG. (2023)

[2] Gesner M. Volanesorsen: a new medication for hypertriglyceridemia and familial chylomicronemia syndrome. (2023)

[3] Oh RC. Niacin therapy in the treatment of dyslipidemia. (2020)

[4] Berglund L. Treatment options for patients with severe hypertriglyceridemia. (2012)

[5] Result: miscellaneous antihyperlipidemic agents. (2012)

[6] Gesner M. Volanesorsen: a new medication for hypertriglyceridemia and familial chylomicronemia syndrome. (2023)

[7] Goyal A. Emerging and investigational therapies for FHTG. (2023)

Based on the provided context, it appears that Familial Hypertriglyceridemia (FHTG) has been reclassified or is considered an obsolete term. However, I can provide information on the differential diagnoses for conditions related to FHTG.

The differential diagnoses for disorders presenting with chylomicronemia or hypertriglyceridemia include:

• Lipoprotein lipase deficiency [3]
• Apo C II deficiency [3]
• Apo AV deficiency [3]

These conditions are characterized by elevated triglyceride levels and can present similarly to FHTG. It's essential to consider these differential diagnoses when evaluating patients with hypertriglyceridemia.

Additionally, other conditions that may be considered in the differential diagnosis for hypertriglyceridemia include:

• Alcohol abuse [2]
• Chylomicronemia syndrome
• Hormone replacement therapy
• Hypothyroidism
• Pancreatitis
• Renal failure
• Type 1 Diabetes Mellitus
• Type 2 Diabetes Mellitus

These conditions can also present with elevated triglyceride levels and should be considered in the differential diagnosis for hypertriglyceridemia.

It's worth noting that Familial Hypertriglyceridemia (FHTG) is now referred to as type IV familial dyslipidemia [1]. However, the information provided above is still relevant for conditions related to FHTG and its differential diagnoses.