Rheumatology and Immunology Practice Questions

Q: A patient presents with severe pain and swelling in his knee joint for 10 days. He also complains of pain and discomfort during urination. He says that he had diarrhea one month ago and he has been unwell since then. What is the most likely diagnosis?

Reactive arthritis. Reactive arthritis - This diagnosis is strongly supported by the triad of symptoms: **arthritis** (knee pain/swelling), **urethritis** (pain during urination), and a preceding **gastrointestinal infection** (diarrhea one month prior) [1]. - Reactive arthritis is an inflammatory arthritis triggered by an infection in another part of the body, often **gastrointestinal** or **genitourinary** [2]. *Psoriasis arthritis* - This condition is associated with **psoriasis**, a skin disease characterized by red, scaly patches, which is not mentioned in the patient's history. - While it can affect joints, it does not typically present with a preceding gastrointestinal infection or urethral symptoms. *Rheumatoid arthritis* - **Rheumatoid arthritis** typically presents with symmetric polyarticular joint involvement, often affecting smaller joints like those in the hands and feet, rather than a single large joint like the knee [3]. - It does not typically follow a gastrointestinal infection or involve urethral symptoms. *Enteropathic arthritis* - This type of arthritis is associated with **inflammatory bowel diseases** (IBD) like Crohn's disease or ulcerative colitis. - While diarrhea can be a symptom of IBD, the patient's presentation with acute urethritis points away from enteropathic arthritis as the primary diagnosis, which often involves axial skeleton or peripheral joints but typically not urethral inflammation.

Q: A patient presents with pulmonary hemorrhage and is P-ANCA positive. What is the most likely diagnosis?

Microscopic polyangiitis. ***Microscopic polyangiitis*** - This condition is characterized by **pulmonary hemorrhage** (often manifesting as diffuse alveolar hemorrhage) and **P-ANCA positivity**, which is typically associated with antibodies against **myeloperoxidase (MPO)**. [1] - It is a **small-vessel vasculitis** that frequently affects the kidneys (glomerulonephritis) and lungs without granuloma formation. *Churg-Strauss syndrome* - While Churg-Strauss syndrome (now known as **Eosinophilic Granulomatosis with Polyangiitis**, EGPA) can be P-ANCA positive, it is typically associated with a history of **asthma**, **allergic rhinitis**, and **eosinophilia**. [1] - Pulmonary involvement often includes **infiltrates** and nodules, but diffuse alveolar hemorrhage with severe pulmonary hemorrhage is less common as the primary presentation compared to MPA. *Wegener granulomatosis* - Wegener granulomatosis (now known as **Granulomatosis with Polyangiitis**, GPA) primarily presents with **upper and lower respiratory tract granulomatous inflammation** and **glomerulonephritis**. - It is typically associated with **C-ANCA positivity** (antibodies against proteinase 3, PR3), not P-ANCA. *Polyarteritis nodosa (PAN)* - Polyarteritis nodosa is a **medium-vessel vasculitis** that typically affects the **kidneys, gastrointestinal tract, skin, and nervous system**. [1] - It is classically **ANCA-negative** and does not typically cause pulmonary hemorrhage or diffuse alveolar hemorrhage.

Q: A 50-year-old male presents with backache, morning stiffness, red eye, and ankle swelling. Based on the X-ray provided, what is the most likely diagnosis?

Ankylosing Spondylitis. ***Ankylosing Spondylitis*** - The X-ray likely shows features of **sacroiliitis** (joint space narrowing, sclerosis, erosion) and possibly **vertebral fusion**, consistent with ankylosing spondylitis. The clinical presentation of **backache, morning stiffness, red eye (uveitis), and ankle swelling (enthesitis)** are classic extra-articular manifestations and peripheral arthritis of ankylosing spondylitis. - X-ray findings like **bamboo spine** (late stage), syndesmophytes, and erosions of the sacroiliac joints are characteristic of this seronegative spondyloarthropathy. *Paget's Disease* - Paget's disease is characterized by disorganized bone remodeling, leading to bone enlargement, deformity, and increased density or lysis. It typically does not present with **sacroiliitis** or widespread **ankylosis**. - Clinical features usually include **bone pain**, **bone deformities**, and potentially **nerve compression**, which are not the primary symptoms described. *Healed TB spine* - Healed TB spine (Pott's disease) would typically show bone destruction, collapse of vertebral bodies, **kyphosis**, and often calcified abscesses. - While backache can occur, the presence of **red eye** and **ankle swelling** are not characteristic of spinal tuberculosis. *Osteopetrosis* - Osteopetrosis is a rare genetic disorder characterized by **increased bone density** due to defective osteoclast function, leading to abnormally thick and brittle bones. - The X-ray would show **generalized sclerosis** (diffuse increased bone density) throughout the skeleton, which is not the primary finding indicated by the clinical context of sacroiliitis and joint fusion.

Q: A 20-year-old patient presents with chronic low backache and early morning stiffness for the last 2 years. For the past 6 months, they have also experienced bilateral heel pain. What is the most likely diagnosis?

Ankylosing spondylitis. ***Ankylosing spondylitis*** - The combination of **chronic low backache** and **early morning stiffness** is highly characteristic of inflammatory back pain seen in ankylosing spondylitis. [1] - **Bilateral heel pain** (enthesitis) is a common extra-articular manifestation of ankylosing spondylitis, further supporting the diagnosis. [1] *Mechanical pain* - **Mechanical back pain** typically worsens with activity and improves with rest, in contrast to inflammatory back pain which improves with activity. [2] - It does not usually present with systemic features or enthesitis like heel pain. [2] *Disc prolapse* - **Disc prolapse** usually presents with radicular pain (nerve pain) that radiates down the leg, often unilateral, and is exacerbated by specific movements or coughing. - Early morning stiffness and bilateral heel pain are not typical features of a disc prolapse. *TB spine* - **TB spine** (Pott's disease) often presents with constitutional symptoms like fever, weight loss, and night sweats along with back pain, which are not mentioned here. - While it causes chronic back pain and stiffness, it's typically more localized with vertebral collapse and neurological deficits, and generally doesn't cause bilateral heel pain.

Q: A 26-year-old male presents with backache, morning stiffness, reduced chest expansion, and reddening of the eyes. The X-ray provided is shown below. What is the most likely diagnosis?

Ankylosing spondylitis. ***Ankylosing spondylitis*** - The patient's symptoms of **backache, morning stiffness, reduced chest expansion**, and **reddening of the eyes** (uveitis) are classic manifestations of ankylosing spondylitis. The X-ray image (though somewhat obscured) shows signs consistent with **sacroiliitis** and possibly early **syndesmophyte formation**, leading to a "bamboo spine" appearance which is pathognomonic. - This condition is a **chronic inflammatory disease** primarily affecting the spine and sacroiliac joints, more common in young men. *Osteopetrosis* - This is a rare genetic disorder characterized by **increased bone density** due to defective osteoclast function, leading to bone fragility. - Clinical features usually include **fractures**, cranial nerve palsies due to narrowed foramina, and **hematologic abnormalities** due to marrow obliteration, not inflammatory back pain or uveitis. *Paget's disease* - **Paget's disease of bone** involves localized areas of excessive bone turnover, leading to disorganized bone structure. - It typically affects older individuals and presents with **bone pain**, skull enlargement, and hearing loss, rather than inflammatory back pain and uveitis in a young male. *Rheumatoid arthritis* - Rheumatoid arthritis is a **chronic autoimmune disease** primarily affecting the **synovial joints**, mostly small joints, symmetrically. - While it can cause systemic inflammation, it typically spares the axial skeleton, and symptoms like severe morning stiffness and reduced chest expansion with specific X-ray findings described are not characteristic.

Q: A patient presents with numb fingertips and tight facial skin. ANA is positive with an immunofluorescence nucleolar pattern. What is the most likely diagnosis?

Systemic sclerosis. ***Systemic sclerosis*** - The combination of **numb fingertips** (suggesting Raynaud's phenomenon) and **tight facial skin** (cutaneous fibrosis) is highly characteristic of systemic sclerosis [1]. - A **positive ANA with a nucleolar pattern** is strongly associated with systemic sclerosis, particularly the diffuse cutaneous form, and often indicates the presence of anti-RNA polymerase III, anti-Th/To or anti-U3-RNP (fibrillarin) antibodies. *Systemic lupus erythematosus* - While ANA is positive in SLE, a **nucleolar pattern is uncommon**; common patterns include homogeneous or speckled [1]. - SLE typically presents with **malar rash**, photosensitivity, and arthritis, with tight skin being less common. *Mixed connective tissue disease* - MCTD is characterized by overlapping features of SLE, systemic sclerosis, and polymyositis, with a very high titer of **anti-U1-RNP antibodies** [1]. - While Raynaud's phenomenon can occur, profound skin tightening is less typical than in systemic sclerosis, and the ANA pattern is often speckled. *Rheumatoid arthritis* - RA primarily affects the **synovial joints**, causing pain, swelling, and stiffness (especially in small joints of hands and feet). - A positive ANA is less specific for RA, and neither tight skin nor a nucleolar ANA pattern are characteristic features [1].

Q: A young male presents with acute redness of the eye. His X-ray of the spine is shown below. What is the most likely condition?

Ankylosing Spondylitis. ***Ankylosing Spondylitis*** - The young male presenting with **acute redness of the eye** (uveitis) and a spinal X-ray showing changes consistent with **bamboo spine** (fusion of vertebrae due to syndesmophyte formation) is highly indicative of ankylosing spondylitis. - This condition is a chronic inflammatory disorder primarily affecting the **axial skeleton** (spine and sacroiliac joints) and is often associated with extra-articular manifestations like **uveitis**. *Psoriatic Arthritis* - While psoriatic arthritis can affect the spine and cause uveitis, the characteristic imaging findings in the provided X-ray, particularly the **bamboo spine**, are more classical for ankylosing spondylitis. - Psoriatic spondylitis often presents with more asymmetric and less diffuse spinal involvement compared to ankylosing spondylitis. *Rheumatoid Arthritis* - Rheumatoid arthritis primarily affects the **peripheral joints** (e.g., small joints of hands and feet) and typically spares the axial skeleton, except for involvement of the **cervical spine**. - **Uveitis** is a rare extra-articular manifestation in rheumatoid arthritis, and the X-ray findings are not typical for this condition. *Sjögren Syndrome* - Sjögren syndrome is a chronic autoimmune disease characterized by **dry eyes** (keratoconjunctivitis sicca) and **dry mouth** (xerostomia) due to lymphocytic infiltration of exocrine glands. - While it can cause some joint pain, it does not typically lead to the characteristic spinal changes seen on the X-ray or acute uveitis.

Q: A young patient presents to the clinic with erythematous lesions over the exposed areas of the skin like hands, arms, chest, etc. she also complaints of arthralgia and breathlessness. Which among the following antibodies will be useful in diagnosing this condition?

Anti-dsDNA antibodies. Anti-dsDNA antibodies - The clinical presentation with erythematous lesions in sun-exposed areas (consistent with photosensitivity [1] or malar rash), arthralgia, and breathlessness (suggesting serositis [4] or pulmonary involvement) is highly suggestive of Systemic Lupus Erythematosus (SLE) [3]. - Anti-dsDNA antibodies are highly specific for SLE and are included in the diagnostic criteria [4]. Their levels often correlate with disease activity, especially in lupus nephritis. *Anti-centromere antibodies* - These antibodies are typically associated with CREST syndrome (a limited form of systemic sclerosis), characterized by Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasias. - This clinical picture does not align with the patient's symptoms, which point more towards an inflammatory multi-systemic disease. *Anti-RNP antibodies* - Anti-ribonucleoprotein (RNP) antibodies are characteristic of Mixed Connective Tissue Disease (MCTD) [2], which features overlapping symptoms of SLE, systemic sclerosis, and polymyositis [3]. - While some features like arthralgia might overlap, the classic erythematous lesions and breathlessness are more directly linked to SLE in this presentation, and anti-dsDNA is more specific for distinguishing SLE. *Anti-Scl 70 antibodies* - Also known as anti-topoisomerase I antibodies, these are highly specific for diffuse cutaneous systemic sclerosis. - This condition is characterized by widespread skin thickening, interstitial lung disease, and other visceral organ involvement, which is not fully supported by the patient's primary symptoms of prominent erythematous rashes and isolated arthralgia.

Q: Which of the following is not a first-line drug for the management of a patient with rheumatoid arthritis?

Azathioprine. ***Azathioprine*** - While an **immunosuppressant**, azathioprine is generally reserved for patients with **refractory rheumatoid arthritis (RA)** or those who cannot tolerate or have failed first-line DMARDs. - Its use often comes with a higher risk of side effects, making it less suitable as an initial agent compared to other conventional synthetic DMARDs. *Hydroxychloroquine* - This is a **first-line DMARD** for RA, particularly in patients with **mild disease**, due to its relatively favorable safety profile. - It is often used in combination with other DMARDs like methotrexate. *Sulfasalazine* - Sulfasalazine is a common **first-line conventional synthetic DMARD** for RA, especially effective in patients with peripheral arthritis. - It is frequently used when methotrexate is contraindicated or not tolerated, or as part of combination therapy. *Methotrexate* - **Methotrexate is considered the cornerstone** and **first-line treatment** for most patients with rheumatoid arthritis due to its efficacy and tolerability [1]. - It is recommended for early initiation in newly diagnosed patients to prevent joint damage and improve outcomes [2].

Q: A 35-year-old female presents with skin thickening and muscle weakness. Her peripheries became pale on exposure to cold. Her ANA is positive and creatine kinase is increased. Scl-70 is positive and perifascicular infiltration is noted in biopsy. What is the antibody associated with this condition?

Anti PM scl antibody. ***Anti PM scl antibody*** - The constellation of **skin thickening** [2], **muscle weakness** [1], **Raynaud's phenomenon** (pale peripheries on cold exposure) [3], **elevated creatine kinase**, and **perifascicular infiltration** on muscle biopsy indicates an overlap syndrome between **systemic sclerosis** and **polymyositis/dermatomyositis** [3]. - **Anti-PM/Scl antibodies** are highly specific markers for this **overlap syndrome**, explaining the mixed features of scleroderma and myositis. *Anti Jo1 antibody* - This antibody is primarily associated with **polymyositis** or **dermatomyositis**, especially with the **anti-synthetase syndrome**, which includes features like **interstitial lung disease**, **Raynaud's**, and **arthritis** [1]. - While muscle weakness is present, the prominent skin thickening and positive Scl-70 point away from isolated myositis. *Anti centromere antibody* - This antibody is characteristic of **limited cutaneous systemic sclerosis (CREST syndrome)**, which involves **calcinosis**, **Raynaud's phenomenon**, esophageal dysmotility, sclerodactyly, and telangiectasias. - While Raynaud's is present, the widespread skin thickening, muscle weakness, and perifascicular infiltration are not typical of limited cutaneous systemic sclerosis. *Antinuclear antibody* - A **positive antinuclear antibody (ANA)** is a general screening test for **autoimmune diseases** and is present in a wide range of conditions, including systemic sclerosis, lupus, and myositis [4]. - While ANA is positive in this patient, it is not specific enough to diagnose the exact overlap syndrome with its unique clinical and laboratory findings.

Question 1

A patient presents with severe pain and swelling in his knee joint for 10 days. He also complains of pain and discomfort during urination. He says that he had diarrhea one month ago and he has been unwell since then. What is the most likely diagnosis?

Accepted Answer

Reactive arthritis

Answer

Psoriasis arthritis

Answer

Rheumatoid arthritis

Answer

Enteropathic arthritis

Question 2

A patient presents with pulmonary hemorrhage and is P-ANCA positive. What is the most likely diagnosis?

Accepted Answer

Microscopic polyangiitis

Answer

Churg-Strauss syndrome

Answer

Wegener granulomatosis

Answer

Polyarteritis nodosa (PAN)

Question 3

A 50-year-old male presents with backache, morning stiffness, red eye, and ankle swelling. Based on the X-ray provided, what is the most likely diagnosis?

Accepted Answer

Ankylosing Spondylitis

Answer

Paget's Disease

Answer

Healed TB spine

Answer

Osteopetrosis

Question 4

A 20-year-old patient presents with chronic low backache and early morning stiffness for the last 2 years. For the past 6 months, they have also experienced bilateral heel pain. What is the most likely diagnosis?

Accepted Answer

Ankylosing spondylitis

Answer

Mechanical pain

Answer

Disc prolapse

Answer

TB spine

Question 5

A 26-year-old male presents with backache, morning stiffness, reduced chest expansion, and reddening of the eyes. The X-ray provided is shown below. What is the most likely diagnosis?

Accepted Answer

Ankylosing spondylitis

Answer

Osteopetrosis

Answer

Paget's disease

Answer

Rheumatoid arthritis

Question 6

A patient presents with numb fingertips and tight facial skin. ANA is positive with an immunofluorescence nucleolar pattern. What is the most likely diagnosis?

Accepted Answer

Systemic sclerosis

Answer

Systemic lupus erythematosus

Answer

Mixed connective tissue disease

Answer

Rheumatoid arthritis

Question 7

A young male presents with acute redness of the eye. His X-ray of the spine is shown below. What is the most likely condition?

Accepted Answer

Ankylosing Spondylitis

Answer

Psoriatic Arthritis

Answer

Rheumatoid Arthritis

Answer

Sjögren Syndrome

Question 8

A young patient presents to the clinic with erythematous lesions over the exposed areas of the skin like hands, arms, chest, etc. she also complaints of arthralgia and breathlessness. Which among the following antibodies will be useful in diagnosing this condition?

Accepted Answer

Anti-dsDNA antibodies

Answer

Anti-centromere antibodies

Answer

Anti-RNP antibodies

Answer

Anti-Scl 70 antibodies

Question 9

Which of the following is not a first-line drug for the management of a patient with rheumatoid arthritis?

Accepted Answer

Azathioprine

Answer

Hydroxychloroquine

Answer

Sulfasalazine

Answer

Methotrexate

Question 10

A 35-year-old female presents with skin thickening and muscle weakness. Her peripheries became pale on exposure to cold. Her ANA is positive and creatine kinase is increased. Scl-70 is positive and perifascicular infiltration is noted in biopsy. What is the antibody associated with this condition?

Accepted Answer

Anti PM scl antibody

Answer

Anti Jo1 antibody

Answer

Anti centromere antibody

Answer

Antinuclear antibody

Rheumatology and Immunology — MCQs

Rheumatology and Immunology — MCQs

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