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complement component 4a deficiency
ICD-10 Codes
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Description
Complement Component 4A (C4A) Deficiency: A Rare Condition Linked to Autoimmune Disorders
Complement component 4A deficiency is a rare genetic disorder characterized by a deficiency in the C4A protein, which is part of the complement system. This condition is often linked to autoimmune disorders, particularly systemic lupus erythematosus (SLE) with or without glomerulonephritis [1].
Clinical Features
Individuals with C4A deficiency may exhibit various clinical features, including:
- Abnormality of the cardiovascular system
- Vasculitis
- Decreased circulating complement C4 concentration [3][4]
This condition has also been linked to different forms of kidney disease and chronic hepatitis, particularly in children [6].
Relevance to Autoimmune Disorders
A deficiency in complement C4 levels has been associated with various autoimmune disorders, including SLE. This suggests that C4A deficiency may play a role in the development or progression of these conditions [1][6].
Blood Test for Complement Component 4
The complement component 4 (C4) test is a simple blood test that can help identify individuals with signs of autoimmune disorders, including those with C4A deficiency [8]. This test measures the level of C4 proteins in the blood.
References:
[1] Context result 1 [3] Context result 3 [4] Context result 4 [6] Context result 6
Additional Characteristics
- Glomerulonephritis
- Vasculitis
- Chronic hepatitis
- C4A protein
- C4 concentration
- SLE (Systemic Lupus Erythematosus)
- Dysfunction of the cardiovascular system
- Different forms of kidney disease
Signs and Symptoms
Complement Component 4A (C4A) Deficiency Signs and Symptoms
Individuals with C4A deficiency may experience a range of signs and symptoms, which can vary in severity and impact on daily life. Some common symptoms include:
- Frequent infections: People with C4A deficiency are more prone to microbial infections, such as bacterial or viral infections [8][9].
- Fatigue and feeling tired: Chronic fatigue is a common symptom of C4A deficiency, making it difficult for individuals to perform daily activities [7].
- Chronic kidney problems: Some research suggests that C4A deficiency may be associated with chronic kidney problems, although more studies are needed to confirm this link.
- Autoimmune diseases: Individuals with C4A deficiency may be at a higher risk of developing autoimmune diseases, such as Systemic Lupus Erythematosus (SLE) [5].
- Mouth or nose ulcers: Some people with C4A deficiency may experience mouth or nose ulcers, which can be painful and uncomfortable.
- Hair loss: Hair loss is another symptom that has been reported in some individuals with C4A deficiency.
It's essential to note that not everyone with C4A deficiency will experience all of these symptoms, and the severity of the symptoms can vary from person to person. If you suspect you or a loved one may have C4A deficiency, consult a healthcare professional for proper diagnosis and guidance.
References: [7] - Symptoms of complement system conditions include: Frequent infections. Fatigue and feeling tired. [8] - A plethora of research data demonstrated that individuals with C4 deficiency are prone to microbial infections and autoimmune disorders. [9] - C4 deficiency may lead to defective processing of immune complexes, impairment of B-cell memory, and/or persistence of bacterial and viral infections [4–6].
Diagnostic Tests
Complement Component 4a Deficiency Diagnostic Tests
Complement component 4a (C4A) deficiency is a rare condition linked to autoimmune disorders, particularly systemic lupus with or without glomerulonephritis [7]. Diagnosing this condition requires specific tests that measure the activity of complement proteins. Here are some diagnostic tests for C4A deficiency:
- CH50 assay: This is considered one of the best screens for complement deficiency, including C4A deficiency [8].
- Liposome assay: Similar to the CH50 assay, this test measures the activity of complement proteins and can help identify deficiencies.
- Complement component 3 (C3) and Complement 4 (C4) blood tests: These tests measure the levels of C3 and C4 proteins in the blood. Low levels or decreased activity may indicate a deficiency [9].
- Genetic testing: This test can confirm the presence of a genetic mutation that leads to C4A deficiency.
- Complement diagnostic tests: These tests, such as CH50 (classical pathway) and AH50 (alternative pathway), screen for total complement function. Follow-up testing may be necessary to identify specific component deficiencies [14].
It's essential to consult with a healthcare professional or a genetic counselor to determine the best course of action for diagnosing C4A deficiency.
References:
[7] Context result 7 [8] Context result 8 [9] Context result 9 [14] Context result 14
Additional Diagnostic Tests
- Genetic testing
- CH50 assay
- Liposome assay
- Complement component 3 (C3) and Complement 4 (C4) blood tests
- Complement diagnostic tests
Treatment
Treatment Options for Complement Component 4a (C4a) Deficiency
Complement component 4a (C4a) is a protein that plays a crucial role in the complement system, which helps to protect against infections and diseases. A deficiency in C4a can lead to increased susceptibility to infections and autoimmune disorders.
Current Treatment Options
While there is no specific treatment for C4a deficiency, appropriate prevention and treatment of infections are key. This typically involves the use of antibiotics to manage bacterial infections (1). In some cases, fresh frozen plasma infusions have been tried, but this approach carries a risk of developing antibodies against the missing complement component, making prolonged use not advisable (1).
Management of Infections
The primary focus in managing C4a deficiency is preventing and treating infections. This includes:
- Antibiotic therapy to manage bacterial infections
- Antiviral medications for viral infections
- Antifungal medications for fungal infections
It's essential to work closely with a healthcare provider to determine the best course of treatment for each individual case (11).
Immune System Support
In addition to treating specific infections, supporting the immune system is also crucial. This can involve:
- Maintaining good hygiene practices
- Getting adequate rest and nutrition
- Engaging in stress-reducing activities
By taking these steps, individuals with C4a deficiency can help support their immune system and reduce the risk of complications (12).
References
- Currently, there is no single treatment for complement deficiencies. Appropriate prevention and treatment of infections (usually with antibiotics) is key. Fresh frozen plasma infusions have been tried in some cases but carry a risk that the individual may make antibodies to the missing complement component, so prolonged use is not advised.
- The proteins work with your immune system and play a role in protecting from infection. They also help to remove dead cells and foreign material from the body.
- Your treatment depends on the type of mental illness you have, its severity and what works best for you. In many cases, a combination of treatments works best. If you have a mild mental illness with well-controlled symptoms, treatment from your primary care provider may be sufficient. However, often a team approach is appropriate to make sure ...
- The immune system is the body’s defense mechanism against infections and is made of two pathways - the innate pathway and the adaptive pathway.[1] The innate pathway is present from birth and is pre-programmed. The innate immune system consists of the cellular component, which includes monocytes, macrophages, and natural killer cells, and the humoral component, which includes the complement ...
Recommended Medications
- Antifungal medications
- Antibiotic therapy
- Antiviral medications
- Fresh frozen plasma infusions
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Complement Component 4A (C4A) Deficiency Differential Diagnosis
Complement component 4A (C4A) deficiency is a rare genetic disorder that affects the immune system. A differential diagnosis for C4A deficiency involves considering various conditions that may present with similar symptoms.
- Autoimmune diseases: Conditions like lupus, rheumatoid arthritis, and juvenile dermatomyositis have been linked to low levels of complement C4 or C4A [1][2]. These diseases can cause inflammation, tissue damage, and organ dysfunction.
- Kidney disease and chronic hepatitis: A deficiency in complement C4 levels has been associated with different forms of kidney disease and chronic hepatitis [3].
- Immune system disorders: Defects in complement components can predispose individuals to infections and autoimmune diseases [4]. Even though total deficiency of a complement component is rare, patients may experience symptoms like recurrent infections or unexplained inflammation.
- Myositis autoantibodies: Low complement levels have been found in the presence of myositis autoantibodies, which are associated with inflammatory muscle diseases [2].
- Other conditions: A low level of C4 can also be a sign of a condition affecting the immune system, such as an autoimmune disorder or an infection [5].
Key Points to Consider
- Low levels of complement C4 or C4A have been linked to various autoimmune and inflammatory conditions.
- Deficiency in complement component 4 has been associated with kidney disease and chronic hepatitis.
- Immune system disorders can also present with low complement levels.
References
[1] by CA Blanchong · 2000 · Cited by 221 — Partial deficiencies of C4A and C4B, primarily due to gene deletions and homoexpression of C4A proteins, have a combined frequency of 31.6%.
[2] by D Zhou · 2023 · Cited by 16 — Low GCNs of C4T, C4A and C4L strongly correlated with elevated risk of juvenile dermatomyositis, adult-onset dermatomyositis and polymyositis.
[3] by D Zhou · 2023 · Cited by 16 — Low GCN of complement C4 or C4A deficiency are strong risk factors for autoimmunity in IIM. In the presence of myositis autoantibodies, low complement levels ...
[4] by L Thomas — Defects of complement components predispose to infections and autoimmune diseases.
[5] A low level of C4 is associated with autoimmune diseases, such as lupus and rheumatoid arthritis.
Additional Differential Diagnoses
- Autoimmune diseases
- Other conditions
- Kidney disease and chronic hepatitis
- Immune system disorders
- myositis
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