Rheumatology and Immunology Practice Questions

Q: In Familial Mediterranean fever, the gene encoding for which of the following proteins undergoes mutation?

Pyrin. ***Pyrin*** - Familial Mediterranean fever (FMF) is an **autoinflammatory disease** caused by mutations in the **MEFV gene**, which encodes the protein pyrin. - Pyrin plays a crucial role in regulating inflammation by modulating the **NLRP3 inflammasome**; mutations lead to uncontrolled inflammatory responses. *Transthyretin* - Mutations in the gene for **transthyretin** are associated with **hereditary amyloidosis**, particularly transthyretin amyloidosis (ATTR), which affects various organs. - This protein primarily functions in transporting **thyroid hormones** and **retinol**, and its misfolding leads to amyloid deposition, not FMF. *Perforin* - Mutations in the **perforin 1 gene (PRF1)** are linked to **familial hemophagocytic lymphohistiocytosis (HLH)**, a severe immunodeficiency disorder. - Perforin is a cytolytic protein crucial for T-cell and NK-cell mediated cytotoxicity, unrelated to FMF. *Immunoglobulin light chain* - Abnormal production or accumulation of **immunoglobulin light chains** is characteristic of **AL amyloidosis** (primary amyloidosis), where light chains misfold and deposit as amyloid fibrils. - This is a plasma cell dyscrasia and is not associated with the genetic cause of FMF.

Q: ASLO titres are primarily associated with which condition?

Acute rheumatic fever. ***Acute rheumatic fever*** - **Antistreptolysin O (ASLO)** titres are antibodies produced in response to a pharyngeal infection by **Streptococcus pyogenes (Group A Streptococcus)**, which is the causative agent of acute rheumatic fever [1]. - Elevated ASLO titres indicate a recent streptococcal infection, which is crucial for the diagnosis of **acute rheumatic fever**, especially in the absence of a clear history of infection [1]. *Acute rheumatoid arthritis* - **Rheumatoid arthritis** is an autoimmune disease primarily diagnosed by clinical symptoms, imaging, and other serological markers like **rheumatoid factor (RF)** and **anti-cyclic citrullinated peptide (anti-CCP) antibodies** [2]. - ASLO titres are not a diagnostic marker for rheumatoid arthritis and would typically be negative unless there is a co-occurring streptococcal infection. *Ankylosing spondylitis* - **Ankylosing spondylitis** is a chronic inflammatory disease primarily affecting the spine and sacroiliac joints, strongly associated with the **HLA-B27** gene [3]. - ASLO titres have no role in the diagnosis or monitoring of ankylosing spondylitis. *Osteoarthritis* - **Osteoarthritis** is a degenerative joint disease characterized by cartilage breakdown, typically diagnosed based on clinical presentation, physical examination, and imaging findings. - It is not an inflammatory or autoimmune condition and is not associated with streptococcal infections or ASLO titres.

Q: A patient presents with pain in the metatarsophalangeal joints and is a known case of chronic renal failure. This is due to the accumulation of:

Uric acid. Uric acid - **Chronic renal failure** impairs the kidney's ability to excrete **uric acid**, leading to its accumulation in the body [1], [2]. - High levels of uric acid can crystalize in joints, particularly the **metatarsophalangeal joints**, causing painful inflammation known as **gout** [2], [3]. *Rheumatoid factor* - **Rheumatoid factor** is an autoantibody primarily associated with **rheumatoid arthritis**, an autoimmune disease. - While it can be present in other conditions, it is not directly responsible for joint pain in the context of renal failure [3]. *Blood urea nitrogen* - **Blood urea nitrogen (BUN)** is a marker of kidney function and accumulates in renal failure. - However, BUN itself does not directly cause joint pain in the metalsophalangeal joints, unlike uric acid. *HLA B27 typing* - **HLA-B27** is a human leukocyte antigen strongly associated with seronegative spondyloarthropathies like **ankylosing spondylitis** and **reactive arthritis**. - It does not accumulate in chronic renal failure and is not directly related to joint pain caused by renal dysfunction.

Q: HLA-B27 is associated with:

Ankylosing spondylitis. ***Ankylosing spondylitis*** - **HLA-B27** is strongly associated with **ankylosing spondylitis** and other seronegative spondyloarthropathies [1]. - This gene is involved in the immune response and plays a role in the pathogenesis of the disease [1]. *Gouty arthritis* - **Gouty arthritis** is primarily caused by the deposition of **uric acid crystals** in joints, not by HLA-B27. - It is associated with **hyperuricemia**, dietary factors, and metabolic conditions. *Rheumatoid arthritis* - **Rheumatoid arthritis** is associated with **HLA-DR4** and **HLA-DR1**, and is characterized by the presence of rheumatoid factor (RF) and anti-CCP antibodies. - It is not directly linked to **HLA-B27**. *Systemic lupus erythematosus* - **Systemic lupus erythematosus (SLE)** is an autoimmune disease associated with a variety of genes, including **HLA-DR2** and **HLA-DR3**, and antinuclear antibodies (ANA) [2]. - It does not have a primary association with **HLA-B27**.

Q: Iliac crest involvement is common in which condition?

Ankylosing spondylitis. ***Ankylosing spondylitis*** - **Iliac crest involvement** is common due to inflammation at entheses (sites where tendons or ligaments insert into bone), which is a hallmark of **spondyloarthropathies** like ankylosing spondylitis [1]. - This involvement can manifest as **sacroiliitis**, which is a defining feature of the condition, affecting the joints immediately adjacent to the iliac crest [1]. *Rheumatoid arthritis* - Primarily affects the **synovial lining of joints**, typically small peripheral joints, and is not characterized by significant iliac crest involvement. - Does not primarily involve **enthesitis** or widespread inflammation of ligamentous attachments as seen in spondyloarthropathies. *Reiter's syndrome* - Also known as **Reactive Arthritis**, it is a seronegative spondyloarthropathy that can involve the sacroiliac joints and entheses, but **iliac crest involvement** is less specifically highlighted as a primary or common site compared to sacroiliitis. - While it shares some features with ankylosing spondylitis, the primary association with **iliac crest involvement** is more directly linked to chronic sacroiliitis seen in AS. *Osteoarthritis* - Characterized by **cartilage degeneration** and **bone spur formation**, typically in weight-bearing joints. - Does not primarily involve inflammation of entheses like the iliac crest, nor is it an inflammatory arthritis.

Q: Which of the following is NOT a characteristic feature of anaphylactic shock?

Pedal edema. ***Pedal edema*** - While **edema** can occur in anaphylaxis due to increased vascular permeability, **pedal edema** (swelling primarily in the lower extremities) is not a defining characteristic or a primary life-threatening feature of anaphylactic shock. - Anaphylactic shock primarily manifests with systemic symptoms like **hypotension**, **bronchospasm**, and widespread **urticaria** or **angioedema**, rather than isolated peripheral swelling [1], [3]. *Angioedema* - **Angioedema** is a common and often serious feature of anaphylaxis, involving swelling of deeper layers of the skin and mucous membranes [1]. - It can affect the **lips**, **face**, **throat**, and **airway**, potentially leading to airway obstruction [3]. *Urticarial rash* - An **urticarial rash**, or **hives**, is a hallmark cutaneous manifestation of anaphylaxis, characterized by itchy red welts [2]. - It is caused by the release of histamine and other mediators that increase capillary permeability, leading to fluid leakage into the skin [2], [3]. *Flushing* - **Flushing** is a common early symptom of anaphylaxis, characterized by sudden redness and warmth of the skin [1]. - It results from widespread **vasodilation** caused by mediator release, such as histamine [3].

Q: Which of the following statements is true regarding drug-induced lupus erythematosus (DILE)?

Antihistone antibodies are commonly found in DILE.. ***Antihistone antibodies are commonly found in DILE.*** - The presence of **antihistone antibodies** is a hallmark of drug-induced lupus erythematosus, detected in a majority of cases. - This antibody profile helps differentiate DILE from idiopathic systemic lupus erythematosus (SLE), where other autoantibodies like anti-dsDNA are more prominent. *CNS manifestations are common in DILE.* - **Central nervous system (CNS) involvement** is rare in DILE, distinguishing it from idiopathic SLE where neuropsychiatric symptoms are more prevalent. - While headaches and mild cognitive changes can occur, severe manifestations like seizures or psychosis are not typical of DILE. *Renal involvement is common in DILE.* - **Renal involvement**, such as glomerulonephritis, is highly uncommon in DILE, unlike idiopathic SLE where it is a significant cause of morbidity. - If significant renal disease is present in a patient suspected of DILE, it warrants a re-evaluation for idiopathic SLE or another diagnosis. *All patients with antibodies progress to systemic lupus erythematosus.* - Not all patients who develop antibodies, such as **antihistone antibodies**, will progress to full-blown DILE or systemic lupus erythematosus. - The condition typically resolves upon discontinuation of the offending drug, and the presence of antibodies alone is not sufficient for diagnosis, requiring clinical symptoms.

Q: What is the screening test for scleroderma?

Anti-nuclear antibody. ***Anti-nuclear antibody*** - **ANA** is the most sensitive **screening test** for systemic autoimmune diseases, including scleroderma [1]. - A positive ANA test indicates the presence of autoantibodies, leading to further, more specific testing for scleroderma. *U1-Ribonucleoprotein antibody* - This antibody is primarily associated with **mixed connective tissue disease (MCTD)**, not scleroderma as a screening test [1]. - It can be positive in other autoimmune diseases, but it is not the primary screening test for scleroderma. *Anti-LKM antibody* - **Anti-liver kidney microsomal (LKM) antibody** is predominantly found in **autoimmune hepatitis type 2**. - It has no role in the screening or diagnosis of scleroderma. *Anti-topoisomerase antibody* - This antibody, also known as **anti-Scl-70**, is **highly specific for diffuse systemic sclerosis** (scleroderma). - While specific, it is used as a confirmatory test once scleroderma is suspected, rather than a general screening test.

Q: What is true about antinuclear antibody (ANA) in relation to systemic lupus erythematosus (SLE)?

Double stranded Anti-DNA is specific for SLE. ***Double stranded Anti-DNA is specific for SLE*** - The presence of **double stranded Anti-DNA antibodies** is highly specific for **Systemic Lupus Erythematosus (SLE)** [1], helping differentiate it from other autoimmune diseases. - It correlates with **disease activity** and can be used to monitor the disease progress in SLE patients [1]. *None of the above* - This erroneously suggests that all provided statements are incorrect, whereas is indeed true. - It doesn't provide any useful information regarding ANA or its associations with diseases, making it an invalid choice. *ANA normally present in 80%* - While ANAs are commonly present in many autoimmune diseases [1], they are not normal findings and their positivity can vary widely among healthy individuals and those with various conditions [1], making this statement misleading. - Moreover, **80%** is a vague statistic, and the actual percentage can differ based on the population and the tested autoimmune condition. *Anti-RNA antibody is specific for SLE* - Anti-RNA antibodies are not specific for SLE; they can be found in other conditions as well, decreasing their clinical significance in diagnosing SLE. - The hallmark of SLE is better identified through the presence of specific antibodies like **double stranded Anti-DNA** [1] or **anti-Smith** antibodies.

Question 1

In Familial Mediterranean fever, the gene encoding for which of the following proteins undergoes mutation?

Accepted Answer

Pyrin

Answer

Transthyretin

Answer

Perforin

Answer

Immunoglobulin light chain

Question 2

ASLO titres are primarily associated with which condition?

Accepted Answer

Acute rheumatic fever

Answer

Acute rheumatoid arthritis

Answer

Ankylosing spondylitis

Answer

Osteoarthritis

Question 3

A patient presents with pain in the metatarsophalangeal joints and is a known case of chronic renal failure. This is due to the accumulation of:

Accepted Answer

Uric acid

Answer

HLA B27 typing

Answer

Rheumatoid factor

Answer

Blood urea nitrogen

Question 4

HLA-B27 is associated with:

Accepted Answer

Ankylosing spondylitis

Answer

Gouty arthritis

Answer

Rheumatoid arthritis

Answer

Systemic lupus erythematosus

Question 5

Iliac crest involvement is common in which condition?

Accepted Answer

Ankylosing spondylitis

Answer

Reiter's syndrome

Answer

Rheumatoid arthritis

Answer

Osteoarthritis

Question 6

Which of the following is NOT a characteristic feature of anaphylactic shock?

Accepted Answer

Pedal edema

Answer

Angioedema

Answer

Urticarial rash

Answer

Flushing

Question 7

Which of the following statements is true regarding drug-induced lupus erythematosus (DILE)?

Accepted Answer

Antihistone antibodies are commonly found in DILE.

Answer

CNS manifestations are common in DILE.

Answer

Renal involvement is common in DILE.

Answer

All patients with antibodies progress to systemic lupus erythematosus.

Question 8

What is the screening test for scleroderma?

Accepted Answer

Anti-nuclear antibody

Answer

U1-Ribonucleoprotein antibody

Answer

Anti-LKM antibody

Answer

Anti-topoisomerase antibody

Question 9

What is true about antinuclear antibody (ANA) in relation to systemic lupus erythematosus (SLE)?

Accepted Answer

Double stranded Anti-DNA is specific for SLE

Answer

Anti-RNA antibody is specific for SLE

Answer

ANA is rarely present in SLE cases

Answer

None of the options

Question 10

Soft tissue calcification around the knee is seen in:

Accepted Answer

Calcium pyrophosphate dihydrate crystal deposition (Pseudogout)

Answer

Vitamin C deficiency (Scurvy)

Answer

Primary hyperparathyroidism

Answer

Systemic sclerosis (Scleroderma)

Rheumatology and Immunology — MCQs

Rheumatology and Immunology — MCQs

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