Rheumatology and Immunology Practice Questions

Q: A 40-year-old man presents with discomfort in one of his joints. Synovial fluid aspiration reveals rhomboid-shaped, positively birefringent crystals under polarized light microscopy. Which of the following is the most likely diagnosis?

C. Pseudogout. ### Pseudogout - Pseudogout, or **Calcium Pyrophosphate Dihydrate (CPPD) crystal deposition disease**, is classically identified by the presence of **rhomboid-shaped** crystals [1]. - These CPPD crystals exhibit **positive birefringence** under polarized light microscopy, a distinguishing feature from gout [1]. *Gout* - Gout is characterized by monosodium urate (MSU) crystals, which are **needle-shaped**, not rhomboid [1]. - MSU crystals show **strong negative birefringence**, appearing yellow when aligned parallel to the compensator axis (Yellow parallel) [1]. *Rheumatoid arthritis* - The primary diagnostic finding in rheumatoid arthritis (RA) synovial fluid is **inflammatory changes** (high WBC count, mostly neutrophils) and not the presence of crystals. - RA is associated with **RF** and **anti-CCP antibodies** and primarily affects smaller joints symmetrically. *Osteoarthritis* - Osteoarthritis (OA) synovial fluid is typically **non-inflammatory**, appearing viscous with a low white blood cell count (<2000 cells/mm³). - OA is a degenerative joint disease defined by **cartilage loss** and **osteophyte formation**, not crystal deposition [1].

Q: Which of the following is the most common clinical feature observed during the progression of systemic lupus erythematosus (SLE)?

Arthralgia & myalgia. ### Arthralgia & myalgia - **Arthralgia (joint pain)** and **myalgia (muscle pain)** are documented as the most common initial and persistent clinical features, occurring in over 90% of SLE patients [1]. - The arthritis in SLE is typically non-erosive and symmetrical, often affecting the small joints of the hands, wrists, and knees. *Photosensitivity* - While very common and a key diagnostic criterion, it occurs in about 40-50% of patients, making it less frequent than diffuse joint and muscle pain [1]. - It is a prominent feature of cutaneous involvement, often leading to the characteristic **malar rash** or discoid lesions after sun exposure [1]. *Nephrotic syndrome* - Renal involvement (**Lupus nephritis**) is serious, but clinically overt nephrotic syndrome (heavy proteinuria, edema) is found only in a subset of patients with Type III, IV, or V nephritis. - Overall, symptomatic renal disease affects about 50-60% of patients, less frequent than musculoskeletal symptoms. *Anemia and thrombocytopenia* - **Hematologic abnormalities** (anemia, leukopenia, and thrombocytopenia) are common and considered diagnostic criteria but occur in roughly 50% or less of patients. - **Anemia of chronic disease** is the most frequent hematologic finding, while **thrombocytopenia** is less common than arthralgia.

Q: The deformity shown below is seen in:

Rheumatoid arthritis. ***Rheumatoid arthritis*** - The image exhibits classic features of **rheumatoid arthritis**, including **ulnar deviation** of the fingers and swelling of the **metacarpophalangeal (MCP) joints**. - **Swan neck** and **boutonnière deformities** are also characteristic, though less distinctly visible here, while prominent MCP joint swelling points strongly to this diagnosis. *Ankylosing spondylitis* - This condition primarily affects the **axial skeleton**, leading to spinal stiffness and sacroiliitis, rather than peripheral joint deformities seen in the image. - While peripheral arthritis can occur in ankylosing spondylitis, the **classic hand deformities** shown are not typical. *Osteoarthritis* - **Osteoarthritis** typically causes **Heberden's** and **Bouchard's nodes** (affecting distal and proximal interphalangeal joints, respectively) and tends to spare the MCP joints. - The type of joint swelling and deviation seen in the image is not characteristic of osteoarthritis, which also lacks the **inflammatory component** of rheumatoid arthritis. *Reiter's syndrome* - Also known as **reactive arthritis**, Reiter's syndrome is characterized by a triad of arthritis, urethritis, and conjunctivitis, often triggered by an infection. - While it can cause inflammatory arthritis, the specific hand deformities of **ulnar deviation** and prominent MCP swelling are not typical; arthritis tends to be asymmetric and involves larger joints or enthesitis.

Q: A 30-year-old woman with Raynaud's phenomenon and difficulty in chewing food has the following physical appearance. Anti Scl-70 is positive. All are true about the condition shown except:

Malar flush. ***Malar flush*** - A **malar flush** (or malar rash) is a characteristic butterfly-shaped rash that presents across the bridge of the nose and cheeks, commonly associated with **systemic lupus erythematosus (SLE)** or **mitral stenosis**, not systemic sclerosis. - The image and clinical presentation (Raynaud's phenomenon, difficulty chewing, anti-Scl-70 positivity) are consistent with systemic sclerosis, where a malar flush is not a typical feature. *Salt and pepper pigmentation* - **Salt and pepper pigmentation** is a common cutaneous manifestation of **systemic sclerosis**, resulting from areas of both hyperpigmentation and hypopigmentation, particularly on the face and trunk. - This is often seen in individuals with darker skin tones and is a relevant feature in the context of the given clinical picture. *Mask facies* - **Mask facies** in systemic sclerosis results from **tightening of the facial skin**, leading to reduced facial expression, restricted mouth opening (microstomia), and a characteristic smooth, unlined appearance. - The image shows evidence of skin tightening and possible microstomia, consistent with mask facies due to scleroderma. *DLCO is reduced* - **Reduced DLCO (diffusing capacity of the lung for carbon monoxide)** is a common finding in systemic sclerosis, indicating **interstitial lung disease (ILD)**, a frequent and serious complication. - The presence of anti-Scl-70 antibodies (topoisomerase I) increases the risk of developing diffuse cutaneous systemic sclerosis and severe internal organ involvement, including ILD.

Q: A 15-year-old girl has a persistent feverish feeling and myalgia. She has pain in the left knee joint and recurrent mouth ulcers. Which of the following tests is useful for diagnosis? (Recent NEET Pattern 2016-17)

Antinuclear antibody. ***Antinuclear antibody*** - The symptoms of persistent fever, myalgia, knee joint pain, and recurrent mouth ulcers are highly suggestive of **Systemic Lupus Erythematosus (SLE)**. A positive ANA test is a key diagnostic criterion for SLE. - While ANA is a screening test and not specific to SLE, its positivity in this clinical context strongly supports the diagnosis and prompts further specific testing. *C3 levels* - **Low C3 levels** are often seen in active SLE due to the consumption of complement components in immune complex formation. - However, C3 levels are not a primary diagnostic test for SLE; they are more useful for monitoring disease activity and prognosis. *Absolute eosinophil count* - An elevated **absolute eosinophil count** (eosinophilia) is typically associated with allergic reactions, parasitic infections, or certain hematological malignancies. - It is not a characteristic finding in SLE and would not be useful for differentiating SLE from other conditions presenting with similar symptoms. *HLA B5* - **HLA-B5** (specifically HLA-B51) is strongly associated with **Behcet's disease**, which can present with oral ulcers, joint pain, and other systemic symptoms. - While Behcet's disease can mimic some aspects of SLE, the overall clinical picture, particularly the fever and myalgia in the absence of other specific Behcet's features (e.g., genital ulcers, skin lesions, ocular involvement), makes SLE more likely, and ANA is a more relevant initial diagnostic test for SLE.

Q: A 25-year-old female presents with history of fever and oral ulcers and has developed erythematous lesions on her face. Comment on the diagnosis?

Systemic Lupus Erythematosus (SLE). ***Systemic Lupus Erythematosus (SLE)*** - The combination of **fever**, **oral ulcers**, and **malar rash** (butterfly-shaped erythematous lesions across the cheeks and nose) represents classic triad of **SLE** according to **ACR/EULAR diagnostic criteria**. - SLE is a **multisystem autoimmune disease** affecting young women (female:male ratio 9:1) with systemic manifestations including constitutional symptoms and mucocutaneous involvement. *Discoid Lupus Erythematosus (DLE)* - DLE presents with **chronic scarring plaques** with **follicular plugging** and **atrophy**, typically without systemic features like fever. - Lacks **systemic manifestations** such as fever and oral ulcers that are characteristic of systemic lupus. *Dermatomyositis* - Characterized by **heliotrope rash** (violaceous discoloration around eyelids) and **Gottron's papules** over knuckles, not malar distribution. - Associated with **proximal muscle weakness** and elevated **creatine kinase levels**, which are absent in this presentation. *Rosacea* - A **chronic inflammatory skin condition** affecting central face with **persistent erythema** and **papulopustular lesions**. - Does **not** present with systemic symptoms like **fever** or **oral ulcers**, and typically occurs in middle-aged adults.

Q: The clinical diagnosis favors development of chronic gout and the image shows presence of eccentric juxta-articular lobulated soft-tissue masses. Which of the following is the most definitive diagnostic test for gout shown in the image?

Polarized microscopy of tissue fluid aspirate. ***Polarized microscopy of tissue fluid aspirate*** - The definitive diagnosis of gout requires the identification of **monosodium urate crystals** in synovial fluid or tissue, typically performed with polarized microscopy. - This method directly visualizes the *negatively birefringent* (needle-shaped when perpendicular to the polarization axis) crystals, which are pathognomonic for gout. *X-ray of the joint* - X-rays can show characteristic changes in chronic gout, such as **punched-out erosions with overhanging edges** (known as Martel's sign) and soft tissue masses (tophi). - However, these findings are not specific to gout and can be seen in other conditions; they do not provide a definitive diagnosis on their own. *Blood tests for uric acid levels* - Elevated **serum uric acid levels (hyperuricemia)** are a key risk factor for gout, but they are neither necessary nor sufficient for diagnosis. - Many individuals with hyperuricemia never develop gout, and some patients can have normal uric acid levels during an acute gout attack. *MRI of the affected joint* - MRI can visualize soft tissue abnormalities like **tophi**, bone erosions, and inflammatory changes, offering detailed anatomical information. - While useful for assessing disease extent and complications, MRI cannot definitively identify the specific crystal deposits that confirm gout.

Q: Identify the deformity shown in the image.

Sclerodactyly. ***Sclerodactyly*** - The image shows **thickening and tightening of the skin** of the fingers, particularly noticeable over the joints, characteristic of sclerodactyly. - This condition is often associated with **systemic sclerosis (scleroderma)**, where excessive collagen deposition leads to skin hardening. *Prayer sign* - The **prayer sign** refers to the inability to approximate the palmar surfaces of the hands, fingers, and thumbs due to **limited joint mobility**, typically seen in patients with diabetes mellitus. - The image does not depict the hands in a prayer posture or show evidence of generalized joint immobility that would define this sign. *Boutonniere deformity* - A **Boutonniere deformity** is characterized by **flexion of the proximal interphalangeal (PIP) joint** and **hyperextension of the distal interphalangeal (DIP) joint** of a finger. - The image exhibits diffuse skin tightening and swelling rather than the specific joint angulation seen in a Boutonniere deformity. *Arachnodactyly* - **Arachnodactyly** is a condition where the fingers and toes are unusually **long and slender**, often described as "spider-like." - The fingers in the image appear swollen and thickened, which is the opposite of the slender appearance in arachnodactyly.

Q: A 30-year-old female patient presents with erythematous rash over the neck, involving the back. Her investigations reveal presence of anti-MI-2 antibody. What is the diagnosis?

Dermatomyositis. ***Dermatomyositis*** - The combination of an **erythematous rash** over the neck and back (often described as a **shawl sign** or **V-sign**), along with the presence of **anti-MI-2 antibody**, is highly characteristic of dermatomyositis. - Anti-MI-2 antibodies are specific to dermatomyositis and are associated with a classic cutaneous presentation, often with less severe muscle involvement. *SLE* - While **Systemic Lupus Erythematosus (SLE)** can present with various skin rashes, the specific distribution (shawl sign) and the presence of **anti-MI-2 antibody** are not typical findings for SLE. - SLE is more commonly associated with antibodies like **anti-dsDNA**, anti-Sm, or anti-Ro/La. *Inclusion body myositis* - **Inclusion body myositis (IBM)** primarily affects older males and presents with **asymmetric, progressive muscle weakness**, particularly in the quadriceps and forearm flexors. - It does not typically present with the described erythematous rash or **anti-MI-2 antibodies**. *Pyomyositis* - **Pyomyositis** is a **bacterial infection of skeletal muscle**, often presenting with localized pain, swelling, and fever, sometimes leading to abscess formation. - It is not an autoimmune condition and would not involve a characteristic erythematous rash or autoantibodies like **anti-MI-2**.

Q: This elderly male came with a history of recurrent attacks of pain and swelling in the great toe in the past. This is the present X-ray of the hands. The diagnosis can be confirmed by:

Polarized microscopy of tissue fluid aspirate. ***Polarized microscopy of tissue fluid aspirate*** - The patient's history of recurrent pain and swelling in the **great toe**, along with the X-ray findings (which likely show features of crystal deposition such as **erosions with overhanging edges** or joint damage), is highly suggestive of **gout**. - **Gout** is definitively diagnosed by identifying **negatively birefringent needle-shaped urate crystals** within the synovial fluid or tissue aspirate under polarized microscopy. *HLA B27* - **HLA-B27** is a genetic marker associated with **spondyloarthropathies**, such as Caucasians with ankylosing spondylitis and psoriatic arthritis, not typically used for diagnosing gout. - While some spondyloarthropathies can affect the great toe, the clinical presentation and X-ray findings (which are presumably related to crystal deposition) are not characteristic of this condition. *Anti-CCP antibodies* - **Anti-CCP antibodies** (anti-cyclic citrullinated peptide antibodies) are a specific serological marker for **rheumatoid arthritis**. - Rheumatoid arthritis typically affects small joints symmetrically but does not primarily present with acute, recurrent painful swelling of the great toe or the characteristic X-ray changes seen in gout. *X-ray of lumbosacral spine* - An **X-ray of the lumbosacral spine** is indicated for conditions affecting the spine, such as ankylosing spondylitis or disc herniation. - While chronic gout can sometimes affect the spine, it is not the primary diagnostic tool for confirming gout, especially given the classic peripheral joint involvement.

Question 1

A 40-year-old man presents with discomfort in one of his joints. Synovial fluid aspiration reveals rhomboid-shaped, positively birefringent crystals under polarized light microscopy. Which of the following is the most likely diagnosis?

Accepted Answer

C. Pseudogout

Answer

A. Gout

Answer

B. Rheumatoid arthritis

Answer

D. Osteoarthritis

Question 2

Which of the following is the most common clinical feature observed during the progression of systemic lupus erythematosus (SLE)?

Accepted Answer

Arthralgia & myalgia

Answer

Nephrotic syndrome

Answer

Anemia and thrombocytopenia

Answer

Photosensitivity

Question 3

The deformity shown below is seen in:

Accepted Answer

Rheumatoid arthritis

Answer

Ankylosing spondylitis

Answer

Osteoarthritis

Answer

Reiter's syndrome

Question 4

A 30-year-old woman with Raynaud's phenomenon and difficulty in chewing food has the following physical appearance. Anti Scl-70 is positive. All are true about the condition shown except:

Accepted Answer

Malar flush

Answer

Salt and pepper pigmentation

Answer

Mask facies

Answer

DLCO is reduced

Question 5

A 15-year-old girl has a persistent feverish feeling and myalgia. She has pain in the left knee joint and recurrent mouth ulcers. Which of the following tests is useful for diagnosis? (Recent NEET Pattern 2016-17)

Accepted Answer

Antinuclear antibody

Answer

C3 levels

Answer

Absolute eosinophil count

Answer

HLA B5

Question 6

A 25-year-old female presents with history of fever and oral ulcers and has developed erythematous lesions on her face. Comment on the diagnosis?

Accepted Answer

Systemic Lupus Erythematosus (SLE)

Answer

Discoid Lupus Erythematosus (DLE)

Answer

Dermatomyositis

Answer

Rosacea

Question 7

The clinical diagnosis favors development of chronic gout and the image shows presence of eccentric juxta-articular lobulated soft-tissue masses. Which of the following is the most definitive diagnostic test for gout shown in the image?

Accepted Answer

Polarized microscopy of tissue fluid aspirate

Answer

X-ray of the joint

Answer

Blood tests for uric acid levels

Answer

MRI of the affected joint

Question 8

Identify the deformity shown in the image.

Accepted Answer

Sclerodactyly

Answer

Prayer sign

Answer

Boutonniere deformity

Answer

Arachnodactyly

Question 9

A 30-year-old female patient presents with erythematous rash over the neck, involving the back. Her investigations reveal presence of anti-MI-2 antibody. What is the diagnosis?

Accepted Answer

Dermatomyositis

Answer

SLE

Answer

Inclusion body myositis

Answer

Pyomyositis

Question 10

This elderly male came with a history of recurrent attacks of pain and swelling in the great toe in the past. This is the present X-ray of the hands. The diagnosis can be confirmed by:

Accepted Answer

Polarized microscopy of tissue fluid aspirate

Answer

HLA B27

Answer

Anti-CCP antibodies

Answer

X-ray of lumbosacral spine

Rheumatology and Immunology — MCQs

Rheumatology and Immunology — MCQs

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