Rheumatology & Haematology — MCQs

Rheumatology & Haematology UK Medical PG Practice Questions and MCQs

Question 11: A 65-year-old man presents with sudden onset severe headache and jaw claudication. ESR is 95 mm/hr. What is the most appropriate immediate treatment?

A. Paracetamol
B. Sumatriptan
C. High-dose prednisolone (Correct Answer)
D. Methotrexate
E. Anti-TNF therapy

Explanation: ***High-dose prednisolone***- The clinical presentation (age, severe headache, jaw claudication, and significantly elevated **ESR**) is highly suggestive of **Giant Cell Arteritis (GCA)**, which is a medical emergency.- Immediate high-dose systemic **glucocorticoids** are essential to rapidly suppress the vasculitis and prevent the most feared complication: irreversible **vision loss** (due to ophthalmic artery occlusion).*Paracetamol*- This is a simple analgesic and will not treat the underlying severe systemic **inflammatory vasculitis** characteristic of GCA.- It lacks the necessary rapid and potent **immunosuppressive** effects required to prevent permanent ischemic damage to the vessel and end-organs.*Sumatriptan*- This medication is used for acute treatment of **migraine** or cluster headaches, conditions distinct from GCA.- It is ineffective against headaches caused by **arterial inflammation** and delaying steroid initiation puts the patient at high risk of blindness.*Methotrexate*- This is a slow-acting **disease-modifying antirheumatic drug (DMARD)** often used as a steroid-sparing agent in chronic rheumatologic conditions.- Its onset of action is far too slow to be considered the immediate intervention required to halt acute, sight-threatening **vasculitis**.*Anti-TNF therapy*- Biological agents such as anti-TNF are reserved for specific chronic inflammatory conditions and are not the appropriate **induction therapy** for acute GCA.- They do not provide the immediate, rapid anti-inflammatory effect needed to urgently protect the ophthalmic arteries from **ischemia**.

Question 12: A 37-year-old man presents with recurrent nosebleeds and easy bruising. Platelet count is 25,000/μL. Bone marrow shows abundant megakaryocytes. What is the most likely diagnosis?

A. Aplastic anemia
B. Acute leukemia
C. Immune thrombocytopenic purpura (Correct Answer)
D. Thrombotic thrombocytopenic purpura
E. Hypersplenism

Explanation: ***Immune thrombocytopenic purpura*** - Characterized by **autoantibody-mediated destruction** of platelets, leading to severe **thrombocytopenia** (25,000/μL) and bleeding symptoms like nosebleeds and bruising. - The bone marrow compensates for peripheral destruction by robust platelet production, evidenced by **abundant megakaryocytes**. *Aplastic anemia* - This condition involves failure of hematopoietic stem cells, resulting in a **hypocellular bone marrow** and pancytopenia. - The diagnosis is excluded by the presence of **abundant megakaryocytes**, as aplastic anemia causes hypocellularity across all cell lines. *Acute leukemia* - Thrombocytopenia in leukemia results from impaired production due to bone marrow replacement by leukemic **blasts**. - The bone marrow would typically show few, if any, normal megakaryocytes, which contradicts the observation of abundant megakaryocytes. *Thrombotic thrombocytopenic purpura* - TTP is characterized by the formation of microvascular thrombi, leading to platelet consumption and requires associated features like **microangiopathic hemolytic anemia** (schistocytes) and neurological symptoms. - While it causes thrombocytopenia, the presentation lacks the key non-hemorrhagic systemic features associated with TTP. *Hypersplenism* - This typically causes mild to moderate thrombocytopenia due to sequestration or pooling of platelets within an enlarged spleen, rarely causing counts as low as 25,000/μL. - It is usually associated with **splenomegaly** and portal hypertension, underlying conditions not described in this patient.

Question 13: A 61-year-old woman presents with fatigue and weight loss. Blood tests show Hb 8.5 g/dL, MCV 105 fL. Blood film shows hypersegmented neutrophils. What is the most likely cause?

A. Iron deficiency
B. Vitamin B12 deficiency (Correct Answer)
C. Folate deficiency
D. Chronic disease
E. Thalassemia

Explanation: ***Vitamin B12 deficiency***- The patient presents with **macrocytic anemia** (Hb 8.5 g/dL, MCV 105 fL), and the hallmark finding of **hypersegmented neutrophils** on the blood film confirms **megaloblastic anemia**.- Vitamin B12 (cobalamin) is crucial for **DNA synthesis**, and its deficiency impairs cell division in hematopoietic precursors, leading to the formation of large, immature cells (megaloblasts) and characteristic hypersegmented neutrophils.*Iron deficiency*- This condition typically results in **microcytic hypochromic anemia** (low MCV), reflecting insufficient hemoglobin synthesis.- Iron deficiency would show decreased MCV, and peripheral smear abnormalities like **microcytes** and **pencil cells**, not macrocytosis.*Folate deficiency*- This condition also causes **megaloblastic anemia** (macrocytosis, hypersegmented neutrophils) because folate is also necessary for **DNA synthesis**.- While blood film findings are identical to B12 deficiency (macrocytosis + hypersegmented neutrophils), B12 deficiency is often tested first as it also carries the risk of **irreversible neurological damage**.*Chronic disease*- Anemia of chronic disease (ACD) is typically **normocytic, normochromic** (normal MCV) or occasionally microcytic.- ACD involves iron sequestration and cytokine-mediated suppression of erythropoiesis, but it does **not** cause the characteristic **hypersegmented neutrophils** seen here.*Thalassemia*- Thalassemia is a genetic disorder of globin chain synthesis that causes severe **microcytic anemia** (very low MCV) due to imbalanced chain production.- The red cells are typically small and pale, and the smear often shows **target cells** and **basophilic stippling**, not macrocytosis.

Question 14: A 55-year-old woman presents with bone pain and elevated calcium. Protein electrophoresis shows an IgG paraprotein. Bone marrow shows >30% plasma cells. What is the most likely diagnosis?

A. Multiple myeloma (Correct Answer)
B. Monoclonal gammopathy of uncertain significance
C. Smoldering myeloma
D. Waldenstrom's macroglobulinemia
E. Plasmacytoma

Explanation: ***Multiple myeloma***- The presence of **bone pain**, **hypercalcemia**, an **IgG paraprotein**, and **bone marrow plasmacytosis (>30%)** fulfills the diagnostic criteria for active multiple myeloma, specifically the **CRAB features**.- Active multiple myeloma is diagnosed when there is evidence of clonal plasma cells (≥10% in marrow or plasmacytoma) along with **myeloma-defining events (MDEs)**, such as the observed CRAB features (hypercalcemia and bone lesions).*Monoclonal gammopathy of uncertain significance*- MGUS is characterized by the **absence of symptoms** and **CRAB features**, with bone marrow plasma cells typically **<10%** and M-protein **<3 g/dL**.- This patient's **symptomatic bone pain**, **hypercalcemia**, and **>30% plasma cells** rule out MGUS.*Smoldering myeloma*- Smoldering multiple myeloma (SMM) involves a higher tumor burden (marrow plasma cells 10–60% or M-protein ≥3 g/dL) but, crucially, **lacks any CRAB features** or other MDEs.- The patient's presentation with **hypercalcemia** and **bone pain** indicates active disease, thus ruling out SMM.*Waldenstrom's macroglobulinemia*- Waldenstrom's macroglobulinemia (WM) is primarily associated with an **IgM paraprotein** and lymphoplasmacytic lymphoma in the bone marrow, often leading to hyperviscosity syndrome.- The patient has an **IgG paraprotein** and classic lytic bone disease leading to hypercalcemia, which are characteristic of multiple myeloma, not WM.*Plasmacytoma*- A plasmacytoma is a **localized tumor** of plasma cells, which can be solitary bone plasmacytoma or extramedullary. It typically does not involve diffuse bone marrow plasmacytosis (>30%) or systemic CRAB features.- The extensive bone marrow involvement and systemic complications like **hypercalcemia** and diffuse **bone pain** indicate systemic multiple myeloma rather than a solitary plasmacytoma.

Question 15: A 51-year-old woman presents with bone pain and elevated alkaline phosphatase. X-rays show mixed lytic and sclerotic lesions. Bone scan shows increased uptake. What is the most likely diagnosis?

A. Osteoporosis
B. Paget's disease (Correct Answer)
C. Metastatic bone disease
D. Multiple myeloma
E. Osteomalacia

Explanation: ***Paget's disease*** - The combination of **bone pain**, significantly **elevated alkaline phosphatase**, **mixed lytic and sclerotic lesions** on X-ray, and **increased uptake on bone scan** are classic findings for Paget's disease of bone. - This condition is characterized by a focal disorder of bone remodeling, involving phases of excessive bone resorption followed by disorganized and rapid bone formation. *Osteoporosis* - **Osteoporosis** primarily presents with **fragility fractures** due to reduced bone mineral density and typically does not cause a markedly elevated alkaline phosphatase or mixed lytic/sclerotic lesions on X-ray. - Bone scans in osteoporosis usually show **decreased uptake**, reflecting low bone turnover, in contrast to the increased uptake seen in this patient. *Metastatic bone disease* - While metastatic bone disease can cause bone pain and lytic or sclerotic lesions, the presentation would often involve a known primary malignancy, and the specific combination of markedly **elevated alkaline phosphatase** with mixed lytic-sclerotic lesions strongly favors Paget's. - Metastatic lesions often present as purely lytic or purely sclerotic, and while mixed patterns exist, the described picture is highly suggestive of Paget's in the absence of a primary cancer. *Multiple myeloma* - Multiple myeloma is characterized by **punched-out lytic lesions** without a sclerotic component, due to osteoclast activation, and is associated with a monoclonal paraprotein. - **Alkaline phosphatase** levels are typically **normal** in multiple myeloma unless there are associated pathological fractures or other complications like liver involvement. *Osteomalacia* - **Osteomalacia** is caused by defective bone mineralization, leading to soft bones, diffuse bone pain, and muscle weakness, and typically presents with X-rays showing **radiolucency** and **pseudofractures (Looser's zones)**. - Although **alkaline phosphatase** can be elevated in osteomalacia, the characteristic mixed lytic and sclerotic lesions described are not consistent with this diagnosis.

Question 16: A 28-year-old woman presents with recurrent oral ulcers, genital ulcers, and arthritis. She has a positive pathergy test. What is the most likely diagnosis?

A. Systemic lupus erythematosus
B. Crohn's disease
C. Behçet's disease (Correct Answer)
D. Herpes simplex infection
E. Aphthous stomatitis

Explanation: ***Behçet's disease***- The constellation of **recurrent oral ulcers**, **genital ulcers**, and **arthritis** is the classic presentation of this systemic vasculitis.- A **positive pathergy test**, indicating nonspecific cutaneous hyperreactivity, is highly specific (though not highly sensitive) for Behçet's disease.*Systemic lupus erythematosus*- While SLE can cause oral ulcers, they are usually **painless** and less commonly recurrent, and SLE is classically defined by features like **malar rash** and serositis.- **Genital ulcers** and a specific **positive pathergy test** are not typical features used to diagnose or differentiate SLE.*Crohn's disease*- Crohn's disease is primarily a form of **Inflammatory Bowel Disease (IBD)**; while it can cause oral lesions and peripheral arthritis, severe, recurrent **genital ulcers** are uncommon.- A **positive pathergy test** is a characteristic feature of Behçet's disease and is not typically associated with Crohn's disease.*Herpes simplex infection*- HSV causes painful, recurring **vesicular lesions** that evolve into ulcers in the oral and genital areas but typically does not cause a systemic, persistent **arthritis**.- HSV infection is diagnosed by viral tests (e.g., PCR) and does not result in a **positive pathergy test**.*Aphthous stomatitis*- This common condition only causes **recurrent oral ulcers** (canker sores) and is considered a localized mucosal disorder.- It does not cause associated features like **genital ulcers**, systemic **arthritis**, or the inflammatory skin hyperreactivity seen with a **positive pathergy test**.

Question 17: A 70-year-old woman presents with severe headache and jaw claudication. She also complains of visual disturbances. ESR is 95 mm/hr. What is the most appropriate immediate treatment?

A. Paracetamol
B. Sumatriptan
C. High-dose prednisolone (Correct Answer)
D. Methotrexate
E. Anti-TNF therapy

Explanation: ***High-dose prednisolone*** - The clinical presentation (severe headache, jaw claudication, visual disturbances, and very high ESR in an elderly patient) is highly suggestive of **Giant Cell Arteritis (GCA)**. - **High-dose corticosteroids** are the immediate and most crucial treatment to prevent **irreversible vision loss**, a devastating complication of GCA. *Paracetamol* - Paracetamol (acetaminophen) is a basic **analgesic** that offers symptomatic pain relief but has no significant **anti-inflammatory** properties. - It would not address the underlying **vasculitis** or prevent the progression to **blindness**, which is the critical concern in GCA. *Sumatriptan* - Sumatriptan is a **triptan** specifically indicated for the acute treatment of **migraine headaches** and cluster headaches. - The headache in GCA is caused by **arterial inflammation**, not migraine, making sumatriptan ineffective and inappropriate for this condition. *Methotrexate* - Methotrexate is a **disease-modifying anti-rheumatic drug (DMARD)** that may be used as a **steroid-sparing agent** or for long-term management in GCA, often in combination with corticosteroids. - However, its **slow onset of action** (weeks to months) makes it unsuitable for the immediate, acute treatment necessary to prevent vision loss in new-onset GCA. *Anti-TNF therapy* - **Anti-TNF agents** are generally not effective in GCA and are not a standard part of its treatment regimen. - While other biologics like **Tocilizumab** (an IL-6 inhibitor) might be considered for refractory cases or steroid sparing, they are not the immediate treatment for acute sight preservation.

Question 18: A 45-year-old woman presents with fatigue, joint pain, and a butterfly rash across her cheeks and nose. Blood tests show positive ANA and anti-dsDNA antibodies. Complement levels (C3, C4) are low. What is the most likely diagnosis?

A. Systemic sclerosis
B. Sjögren's syndrome
C. Systemic lupus erythematosus (Correct Answer)
D. Dermatomyositis
E. Mixed connective tissue disease

Explanation: ***Systemic lupus erythematosus*** - The presence of fatigue, joint pain, and a characteristic **butterfly (malar) rash** across the cheeks and nose is a hallmark clinical presentation of Systemic Lupus Erythematosus (SLE). - The laboratory findings of **positive ANA**, highly specific **anti-dsDNA antibodies**, and **low complement levels (C3, C4)** due to immune complex consumption are definitive for the diagnosis of active SLE. *Systemic sclerosis* - This condition is characterized by **skin thickening (scleroderma)**, Raynaud's phenomenon, and often leads to fibrosis of internal organs like the lungs and gastrointestinal tract. - Typical autoantibodies include **anti-Scl-70** or **anti-centromere antibodies**, and it does not typically present with a malar rash or anti-dsDNA antibodies. *Sjögren's syndrome* - The primary clinical manifestations involve **sicca symptoms** (dry eyes and dry mouth) resulting from immune-mediated damage to exocrine glands. - It is often associated with **anti-Ro (SSA)** and **anti-La (SSB)** antibodies, and lacks the prominent malar rash and anti-dsDNA antibodies seen in this case. *Dermatomyositis* - This autoimmune disease presents with characteristic **proximal muscle weakness** and distinctive cutaneous findings such as **Gottron papules** (over joints) and a **heliotrope rash** (periorbital edema with a violaceous discoloration). - Diagnosis usually involves elevated muscle enzymes like **creatine kinase (CK)** and specific antibodies such as anti-Mi-2 or anti-Jo-1, not anti-dsDNA. *Mixed connective tissue disease* - Defined by overlapping features of several connective tissue diseases (e.g., SLE, systemic sclerosis, polymyositis) along with a high titer of **anti-U1-RNP antibodies**. - While some features may overlap with SLE, the combination of a classic malar rash and high-titer **anti-dsDNA antibodies** with low complements points more specifically to SLE rather than MCTD as the primary diagnosis.

Question 19: A 60-year-old woman presents with bone pain and fatigue. Blood tests show calcium 2.9 mmol/L, phosphate 0.6 mmol/L, ALP 200 U/L. X-rays show osteopenia and Looser zones. What is the most likely diagnosis?

A. Osteoporosis
B. Osteomalacia (Correct Answer)
C. Paget's disease
D. Multiple myeloma
E. Metastatic bone disease

Explanation: ***Osteomalacia*** - The presence of **Looser zones** (pseudofractures) on X-ray, which represent unmineralized osteoid, is pathognomonic for **osteomalacia** (or rickets in children). - The biochemical constellation of **high ALP** (indicating increased osteoblast activity/turnover) and **hypophosphatemia** (due to reduced renal phosphate reabsorption, often driven by secondary hyperparathyroidism) strongly supports a bone mineralization defect. *Osteoporosis* - This condition is characterized by a reduction in bone quantity but normal bone mineralization; hence, **Looser zones** are not seen. - Lab values (calcium, phosphate, **ALP**) are typically within the normal range, unlike the high ALP and abnormal calcium/phosphate seen here. *Paget's disease* - Paget's disease causes focal abnormal bone remodeling, leading to disorganization (mosaic pattern) and thickening of the affected bones, but not **Looser zones**. - It is typically characterized by a very markedly elevated **ALP**, but calcium and phosphate levels usually remain normal. *Multiple myeloma* - This plasma cell malignancy typically causes **punched-out lytic bone lesions** rather than diffuse osteopenia and pseudofractures, alongside systemic symptoms like anemia. - While hypercalcemia is frequent, ALP is usually normal (unless pathological fracture occurs), and the combination of low phosphate and high ALP is atypical. *Metastatic bone disease* - Malignant cells metastasize to the bone, causing either lytic or blastic lesions, but these structural lesions do not include the specific unmineralized zones known as **Looser zones**. - The combination of **hypophosphatemia** and high ALP points more specifically toward a metabolic bone disorder rather than generalized cancer spread.

Question 20: A 60-year-old woman presents with bone pain, particularly in her back and hips. X-rays show multiple lytic lesions in the spine and pelvis. Serum calcium is elevated, and she has a normocytic anemia. What investigation would be most helpful?

A. Bone marrow biopsy
B. Serum protein electrophoresis (Correct Answer)
C. PSA level
D. Mammography
E. Thyroid function tests

Explanation: ***Serum protein electrophoresis*** - The patient's presentation with **bone pain**, **multiple lytic lesions**, **elevated serum calcium**, and **normocytic anemia** is highly suggestive of **Multiple Myeloma**. - **Serum protein electrophoresis (SPEP)** is the most helpful initial investigation as it detects and quantifies the **monoclonal immunoglobulin (M-protein or M-spike)**, which is a hallmark of this plasma cell dyscrasia.*Bone marrow biopsy* - While a **bone marrow biopsy** is crucial for confirming the diagnosis of Multiple Myeloma by identifying clonal plasma cells, it is usually performed *after* an M-protein has been detected via SPEP or immunofixation. - It provides definitive histological evidence but is more invasive and not the primary screening investigation indicated by the clinical picture.*PSA level* - **Prostate-Specific Antigen (PSA)** is a tumor marker primarily used for screening and monitoring **prostate cancer** in men, which is typically associated with **osteoblastic** (sclerotic) bone lesions rather than lytic lesions. - This patient is a woman, making a PSA level irrelevant to her diagnostic workup.*Mammography* - **Mammography** is a diagnostic imaging tool for **breast cancer**. Although breast cancer can metastasize to bone and cause lytic lesions, the combined clinical findings of significant **hypercalcemia** and **normocytic anemia** strongly point to a hematological malignancy like Multiple Myeloma. - It would not directly explain the systemic laboratory abnormalities characteristic of Multiple Myeloma.*Thyroid function tests* - **Thyroid function tests** are used to diagnose thyroid disorders, which do not typically manifest with **multiple lytic bone lesions**, severe **hypercalcemia**, and **normocytic anemia** simultaneously. - While hyperthyroidism can contribute to bone loss, it would not cause the specific lytic lesions or the monoclonal gammopathy associated with this presentation.

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