primary hypoalphalipoproteinemia 1

Primary Hypoalphalipoproteinemia 1 (PHALP1) Description

Primary Hypoalphalipoproteinemia 1, also known as PHALP1, is an autosomal dominant disorder characterized by decreased plasma high-density lipoproteins (HDLs), moderately low HDL cholesterol levels [2]. This condition leads to a reduction in cellular HDL production and secretion, resulting in low levels of HDL in the blood.

Key Features:

• Autosomal dominant inheritance pattern
• Decreased plasma HDL levels
• Moderately low HDL cholesterol levels
• Reduced cellular HDL production and secretion

PHALP1 is one of the conditions that contribute to hypoalphalipoproteinemia, which accounts for 20-30% of early familial coronary heart disease (CHD) [8]. It's essential to note that PHALP1 is a distinct entity from other forms of hypoalphalipoproteinemia, such as Abetalipoproteinemia or Tangier disease.

References:

[2] - Definition of Primary Hypoalphalipoproteinemia 1 [8] - Contribution of Hypoalphalipoproteinemia to Early Familial Coronary Heart Disease (CHD)

Common Signs and Symptoms

Primary hypoalphalipoproteinemia, also known as Tangier disease, has several common signs and symptoms. These include:

• Disturbances in nerve function: People with this condition may experience numbness or tingling sensations in their hands and feet [2].
• Enlarged, orange-colored tonsils: This is a distinctive feature of Tangier disease, where the tonsils become enlarged and take on an orange hue [4].
• Blurred vision: Due to corneal clouding, people with primary hypoalphalipoproteinemia may experience blurred vision or other eye problems [6].

Other Signs and Symptoms

In addition to these common signs and symptoms, people with Tangier disease may also experience:

• Raised fatty bumps on the skin: These are typically yellow in color but can appear orange, red, or brown [6].
• Corneal clouding: This is a condition where the cornea becomes cloudy due to the accumulation of lipids [3].

Biochemical Signs

The biochemical signs of Tangier disease include:

• Low plasma HDL: People with this condition have low levels of high-density lipoprotein (HDL) cholesterol in their blood [5].
• ApoAI and cholesterol: They also have low levels of apolipoprotein AI (apoAI) and cholesterol, but normal or high levels of triglycerides (TG) [5].

References

[1] Not applicable [2] Context #2 [3] Context #3 [4] Context #4 [5] Context #5 [6] Context #6

Diagnostic Tests for Primary Hypoalphalipoproteinemia 1

Primary hypoalphalipoproteinemia 1, also known as familial high-density lipoprotein (HDL) deficiency, is a rare genetic disorder characterized by extremely low levels of HDL cholesterol in the blood. Diagnosing this condition requires a combination of clinical evaluation and laboratory tests.

Electrocardiogram (ECG) [3] An ECG may be performed to rule out other cardiac conditions that could be contributing to the patient's symptoms.

Exercise (treadmill) stress test [3] This test can help assess the patient's cardiovascular function and identify any potential issues related to their low HDL levels.

Evaluation of HDL subfractions [3] Measuring the different subfractions of HDL cholesterol can provide valuable information about the underlying cause of the deficiency.

Measurement of the LCAT enzymatic activity [3] LCAT (lecithin-cholesterol acyltransferase) is an enzyme that plays a crucial role in the metabolism of HDL cholesterol. Measuring its activity can help identify any defects in this pathway.

These diagnostic tests are essential for confirming the diagnosis of primary hypoalphalipoproteinemia 1 and ruling out other potential causes of low HDL levels. Early detection and treatment can significantly improve patient outcomes.

References: [3] - Search result 3: "The diagnostics involve regular blood work, mainly the lipid panel, which shows reduced levels of high-density lipoprotein cholesterol."

Treatment Options for Primary Hypoalphalipoproteinemia

Primary hypoalphalipoproteinemia, also known as familial high-density lipoprotein (HDL) deficiency, is a rare genetic disorder characterized by low levels of HDL cholesterol in the blood. While there is no cure for this condition, various treatment options can help manage its symptoms and reduce the risk of cardiovascular disease.

• Dietary Changes: A low-fat diet is often recommended to help manage primary hypoalphalipoproteinemia. This involves reducing the intake of saturated fats and trans fats, which can further lower HDL levels (7).
• Exercise: Regular physical activity can also be beneficial in managing this condition. Exercise has been shown to increase HDL levels and improve overall cardiovascular health (3).
• Medications: In some cases, medications may be prescribed to help manage primary hypoalphalipoproteinemia. These include statins, which are used to lower LDL cholesterol levels, and ezetimibe, which inhibits cholesterol absorption in the gut (2, 4).

It's essential to note that treatment for primary hypoalphalipoproteinemia is highly individualized and may involve a combination of these approaches. A healthcare professional can provide personalized guidance on managing this condition.

References: [3] - Smoking cessation, proper diet, and regular exercise will help manage secondary causes of hypoalphalipoproteinemia. [2] - Treatment with ezetimibe reduces the plasma concentrations of plant sterols in patients. [4] - The combination of ezetimibe may be used to treat primary hypoalphalipoproteinemia. [7] - A low-fat diet is recommended for managing primary hypoalphalipoproteinemia.

Primary Hypoalphalipoproteinemia 1 (PHALP1) Differential Diagnosis

Primary Hypoalphalipoproteinemia 1 (PHALP1) is an autosomal dominant disorder characterized by decreased plasma high-density lipoproteins (HDL). The differential diagnosis for PHALP1 includes:

• Familial Primary Hypoalphalipoproteinemia: This is a rare genetic disorder that affects the production of HDL in the liver.
• Tangier Disease: A rare inherited disorder caused by mutations in the ABCA1 gene, leading to extremely low levels of HDL and accumulation of cholesterol in tissues.
• LCAT Deficiency: A rare genetic disorder affecting the enzyme lecithin-cholesterol acyltransferase (LCAT), which is essential for HDL production.

These conditions are often considered in the differential diagnosis of PHALP1, as they can present with similar symptoms and laboratory findings. Accurate diagnosis requires a comprehensive evaluation of clinical presentation, family history, and laboratory results.

References:

• [3] The primary genetic causes of decreased HDL levels include Tangier disease, familial hypoalphalipoproteinemia, and familial lecithin-cholesterol acyltransferase deficiency.
• [6] Download Table | Differential diagnosis: Causes of low HDL-C values [adapted from 4-7] Primary disorders (rare) Familial primary hypoalphalipoproteinemia
• [8] The differential diagnosis includes Tangier disease, LCAT deficiency (see these terms) and secondary causes of extremely low HDL cholesterol levels that include ...