Rheumatology and Immunology Practice Questions

Q: A 25-year-old lady presents with inability to form a fist and marked stiffening of joints. Diagnosis is:

Scleroderma. ***Scleroderma*** - The combination of **inability to form a fist** (due to hardening and tightening of the skin on the hands) and marked **stiffening of joints** (often affecting multiple joints) is characteristic of systemic sclerosis, commonly known as scleroderma. - Scleroderma causes **fibrosis** of the skin and internal organs, leading to skin thickening, **Raynaud's phenomenon**, and potential involvement of the lungs, heart, kidneys, and gastrointestinal tract. *Coup de sabre* - This is a localized form of morphea (linear scleroderma) occurring on the face or scalp. It presents as a **linear atrophy** and pigmentation, resembling a saber-cut. - While it involves skin hardening, it typically does not cause generalized joint stiffening or diffuse inability to form a fist that suggests widespread systemic involvement. *Morphea* - **Morphea** is a localized form of scleroderma that primarily affects the skin, causing well-demarcated patches of hardened, discolored skin. - Unlike systemic scleroderma, morphea **rarely involves internal organs** or causes generalized joint stiffness to the extent described in the clinical vignette. *Rheumatoid arthritis* - Rheumatoid arthritis is a chronic inflammatory joint disease primarily affecting the **synovial membranes** of multiple joints, typically presenting with **morning stiffness** lasting over 30 minutes, swelling, and tenderness. - While it can cause joint stiffness and hand deformities, the clinical picture would usually include significant **joint inflammation** (redness, swelling) and would not typically manifest as the diffuse skin hardening that leads to an "inability to form a fist" due to skin tightness, as seen in scleroderma.

Q: A 40-year-old lady complains of progressive deformities of her hands and fingers associated with stiffness which is present in both the hands and improves as the day progresses. On examination, there is symmetrical involvement of hands and fingers of both the upper limbs with flexion and ulnar deviation at the metacarpophalangeal joints. What is the most likely diagnosis in this lady?

Rheumatoid arthritis. ***Rheumatoid arthritis*** - The combination of **symmetrical polyarthritis** affecting the hands and fingers, **morning stiffness** that improves with activity ("improves as the day progresses" not as severe as morning stiffness) [1][4], and characteristic **flexion and ulnar deviation at the metacarpophalangeal joints** (Swan-neck, Boutonniere's, and Z-thumb deformities) are classic features of rheumatoid arthritis (RA) [3]. - RA is an **autoimmune disease** causing chronic inflammation of the synovial lining of joints, leading to progressive joint damage and characteristic deformities [3]. *Ankylosing spondylitis* - This condition primarily affects the **axial skeleton** (spine and sacroiliac joints), causing **back pain and stiffness**, not typically significant small joint deformities of the hands. - While it can involve peripheral joints, it is often **asymmetrical** and doesn't present with the specific hand deformities described. *Osteoarthritis* - **Osteoarthritis** is a degenerative joint disease characterized by **cartilage breakdown**, leading to pain that **worsens with activity** and improves with rest [2]. - Joint involvement is often **asymmetrical** and typically affects weight-bearing joints or causes **Heberden's** and **Bouchard's nodes** in the fingers, not the symmetrical MCP involvement and specific deformities seen here [2]. *Tenosynovitis* - **Tenosynovitis** is an inflammation of the **synovial sheath surrounding a tendon**, causing localized pain, swelling, and difficulty moving the affected digit or limb. - It does not explain the widespread, symmetrical joint involvement, progressive deformities of multiple joints, or systemic nature of the symptoms described.

Q: Which of the following are correct about Felty's syndrome? 1. It is associated with rheumatoid arthritis. 2. It may present with leukopenia. 3. It may have splenomegaly. 4. Splenectomy always improves the blood picture.

1, 2 and 3. ***1, 2 and 3*** - Felty's syndrome is a severe variant of **rheumatoid arthritis** characterized by the triad of **rheumatoid arthritis**, **splenomegaly**, and **neutropenia** (a type of leukopenia) [1]. - While splenectomy can be considered for persistent severe neutropenia, it does not **always improve the blood picture** and is reserved for cases unresponsive to other treatments. *1, 2 and 4* - This option correctly identifies the association with **rheumatoid arthritis** and **leukopenia** but incorrectly states that splenectomy **always improves the blood picture**. - Splenectomy is not a guarantee of improvement and is considered a last resort. *1, 3 and 4* - This option correctly identifies the association with **rheumatoid arthritis** and **splenomegaly** but incorrectly concludes that splenectomy **always improves the blood picture**, and misses the characteristic **leukopenia**. - Leukopenia, specifically neutropenia, is a defining feature of Felty's syndrome [1]. *2, 3 and 4* - This option incorrectly states that Felty's syndrome is always associated with leukopenia and splenomegaly, but the crucial missing element is its clear association with **rheumatoid arthritis**. - The primary underlying condition for Felty's syndrome is **long-standing, severe rheumatoid arthritis** [1].

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.

Question 1

A 25-year-old lady presents with inability to form a fist and marked stiffening of joints. Diagnosis is:

Accepted Answer

Scleroderma

Answer

Coup de sabre

Answer

Morphea

Answer

Rheumatoid arthritis

Question 2

A 40-year-old lady complains of progressive deformities of her hands and fingers associated with stiffness which is present in both the hands and improves as the day progresses. On examination, there is symmetrical involvement of hands and fingers of both the upper limbs with flexion and ulnar deviation at the metacarpophalangeal joints. What is the most likely diagnosis in this lady?

Accepted Answer

Rheumatoid arthritis

Answer

Ankylosing spondylitis

Answer

Osteoarthritis

Answer

Tenosynovitis

Question 3

Which of the following are correct about Felty's syndrome?

1. It is associated with rheumatoid arthritis.
2. It may present with leukopenia.
3. It may have splenomegaly.
4. Splenectomy always improves the blood picture.

Accepted Answer

1, 2 and 3

Answer

1, 2 and 4

Answer

1, 3 and 4

Answer

2, 3 and 4

Question 4

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 5

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 6

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 7

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 8

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 9

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 10

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

Rheumatology and Immunology — MCQs

Rheumatology and Immunology — MCQs

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