obsolete group A hyperlipidemia

Obsolete Group A Hyperlipidemia

Obsolete group A hyperlipidemia refers to a condition characterized by elevated levels of cholesterol in the blood, specifically pure hypercholesterolemia (disorder) [10]. This entity has been obsoleted from the Orphanet nomenclature of rare diseases and does not characterize a disease but a group of diseases [1][8].

Key Features:

• Elevated levels of low-density lipoprotein (LDL) cholesterol
• Pure hypercholesterolemia, without triglyceride elevation
• Considered a subgroup of hyperlipidemia

Citations: [1] - Obsolete entity from Orphanet nomenclature [8] - Entity has been obsoleted from the Orphanet nomenclature of rare diseases [10] - Pure hypercholesterolemia (disorder)

Physical Manifestations

The obsolete group A hyperlipidemia, also known as familial combined hyperlipidemia (FCHL), presents with a range of physical manifestations. These include:

• Elevated levels of VLDL, LDL, or both in plasma [2]
• Severe hypertriglyceridaemia (>20 mmol/L) requiring urgent assessment of secondary causes [3]

Cardiovascular Symptoms

In addition to the above-mentioned physical manifestations, group A hyperlipidemia can also lead to cardiovascular symptoms. These include:

• Chest pain (angina)
• Heart attack
• Stroke [4]
• Cholesterol deposits in tendons or just beneath the skin [4]

Other Symptoms

Other symptoms associated with group A hyperlipidemia include:

• Recurrent episodes of acute pancreatitis [8]
• Abdominal pain
• Nausea
• Fatigue
• Diarrhea
• Hepatosplenomegaly (enlargement of the liver and spleen) [8]

Unique Physical Manifestations

Dysbetalipoproteinemia, a type of group A hyperlipidemia, has unique physical manifestations. These include:

• Tuberous or tuberoeruptive xanthomas (fatty deposits under the skin) appearing on extensor surfaces such as elbows and knees [5]
• Hepatosplenomegaly and severe hypertriglyceridemia in early childhood [6]

Important Note

It's essential to note that high cholesterol levels, including group A hyperlipidemia, often do not present with any noticeable symptoms. The only way to detect it is through blood tests [10].

Based on the provided context, it appears that there are several diagnostic tests associated with hyperlipidemia, but I'll focus on those related to "obsolete group A hyperlipidemia".

According to search result [7], determining a VLDL-C/TG ratio has been the gold standard for diagnosing FDBL (Familial Dysbetalipoproteinemia), which is a type of obsolete group A hyperlipidemia. However, its use has become obsolete due to being time-consuming.

Another test mentioned in search result [8] is the lipid profile, which is the standard diagnostic test for dyslipidemia, including obsolete group A hyperlipidemia. This test can be done either in a fasting or fed state (Halawani et al., 2019).

It's worth noting that while these tests may be considered obsolete for diagnosing specific types of hyperlipidemia, they may still be relevant in certain contexts or for other purposes.

Diagnostic Tests for Obsolete Group A Hyperlipidemia:

• Determining a VLDL-C/TG ratio (no longer used due to being time-consuming)
• Lipid profile (standard diagnostic test for dyslipidemia, including obsolete group A hyperlipidemia)

References:

[7] - While determining a VLDL-C/TG ratio has been the gold standard for diagnosing FDBL for a long time, its use has now become obsolete, due to the time-consuming ... [8] - by N Thongtang · 2022 · Cited by 46 — Diagnosis of dyslipidemia. Lipid profile is the standard diagnostic test for dyslipidemia, which is done either in fasting or fed state (Halawani et al., 2019).

Treatment Options for Obsolete Group A Hyperlipidemia

Group A hyperlipidemia, also known as familial hypercholesterolemia (FH), is a rare genetic disorder characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol. While the term "obsolete group A hyperlipidemia" might suggest that this condition is no longer relevant or treated, it's essential to understand that the treatment options for Group A hyperlipidemia remain similar to those for other forms of familial hypercholesterolemia.

Treatment Goals

The primary goal in treating Group A hyperlipidemia is to lower LDL cholesterol levels and prevent cardiovascular complications. This can be achieved through a combination of lifestyle modifications, dietary changes, and pharmacological interventions.

Pharmacological Interventions

For patients with Group A hyperlipidemia, the following medications are commonly used to lower LDL cholesterol levels:

• Statins: These are the most effective lipid-lowering drugs for treating Group A hyperlipidemia. Statins work by inhibiting the enzyme HMG-CoA reductase, which plays a crucial role in cholesterol production.
• Fibrates: Fibrates can be used in combination with statins to further lower LDL cholesterol levels.
• Ezetimibe: This medication helps reduce blood cholesterol by limiting the absorption of dietary cholesterol. Ezetimibe can be used with a statin drug.

Additional Treatment Options

In some cases, additional treatment options may be considered for patients with Group A hyperlipidemia, including:

• Bempedoic acid: This newer drug works in much the same way as statins but is less likely to cause muscle pain. Adding bempedoic acid (Nexletol) to a maximum statin dosage can help lower LDL cholesterol levels.

Shared Decision-Making

It's essential for patients with Group A hyperlipidemia and their healthcare providers to engage in shared decision-making when it comes to treatment options. This involves considering factors such as the patient's individual risk profile, potential side effects of medications, and personal preferences regarding treatment.

References:

• [8] Oct 26, 2021 — By blocking PCSK9 activity, Inclisiran helps the body reduce the amount of LDL cholesterol.
• [15] The drug ezetimibe (Zetia) helps reduce blood cholesterol by limiting the absorption of dietary cholesterol. Ezetimibe can be used with a statin drug.
• [14] drug-drug interactions; consideration of costs of statin therapy; and patient preferences and values in shared decision-making.
• [15] Adding bempedoic acid (Nexletol) to a maximum statin dosage can help lower LDL cholesterol levels.

Differential Diagnosis of Obsolete Group A Hyperlipidemia

Obsolete Group A hyperlipidemia, also known as Type I hyperlipoproteinemia, is a rare genetic disorder characterized by elevated levels of chylomicrons and triglycerides in the blood. The differential diagnosis for this condition involves ruling out other causes of severe hypertriglyceridemia.

Causes to Consider

• Severe hypothyroidism: This condition can cause an increase in triglyceride levels, mimicking the symptoms of Group A hyperlipidemia.
• Insulin resistance: Insulin resistance can lead to increased triglyceride production and secretion, potentially causing similar symptoms.
• Glycogen storage diseases: Certain glycogen storage diseases, such as Type Ia glycogenosis, can cause an increase in triglyceride levels due to impaired glucose metabolism.

Other Conditions to Rule Out

• Alcoholic pancreatitis: This condition can cause an increase in triglyceride levels due to the release of lipolytic enzymes from the pancreas.
• Metabolic syndrome: Metabolic syndrome is a cluster of conditions, including insulin resistance, hypertension, and dyslipidemia, which can contribute to elevated triglyceride levels.

Diagnostic Approach

To accurately diagnose obsolete Group A hyperlipidemia, it's essential to consider these potential causes and rule them out through a combination of clinical evaluation, laboratory tests, and imaging studies. This may involve:

• Physical examination: Assessing for signs of hypothyroidism, insulin resistance, or metabolic syndrome.
• Laboratory tests: Measuring triglyceride levels, glucose metabolism, and pancreatic function.
• Imaging studies: Evaluating the pancreas and liver for any abnormalities.

References

1. [1] by M Regmi · 2023 · Cited by 3 — Differential Diagnosis
2. [7] by AJ Berberich · 2022 · Cited by 331 — They are classically characterized by abnormal serum levels of cholesterol, triglycerides, or both, involving abnormal levels of related lipoprotein species.
3. [4] Measurement of LPL activity is useful in the differential diagnosis of severe hypertriglyceridaemia where chylomicronaemia is present (type I hyperlipidaemia).
4. [7] by MK Shotwell · 2022 · Cited by 2 — It is important to exclude other potential causes of dyslipidemia, such as genetic causes, and secondary causes, such as hypothyroidism, ...