Rheumatology & Haematology

Rheumatology & Haematology UK Medical PG Question 1: A 38-year-old woman presents with recurrent episodes of severe abdominal pain and psychiatric symptoms. Her urine turns dark during attacks. Family history reveals similar episodes. What is the inheritance pattern?

• A. Autosomal recessive
• B. Autosomal dominant (Correct Answer)
• C. X-linked recessive
• D. X-linked dominant
• E. Mitochondrial

Rheumatology & Haematology Explanation: ***Autosomal dominant*** - The clinical picture of recurrent severe abdominal pain, psychiatric symptoms, and dark urine during attacks is highly suggestive of **Acute Intermittent Porphyria (AIP)**. - AIP is caused by a deficiency in **hydroxymethylbilane synthase (PBG deaminase)** and is inherited in an **autosomal dominant** fashion, which explains the positive family history. *Autosomal recessive* - **Autosomal recessive** disorders typically manifest if two copies of the defective gene are inherited, often presenting in siblings but not consistently across multiple generations (vertical transmission) as implied by the family history. - Conditions like **Congenital erythropoietic porphyria** are autosomal recessive but primarily cause photosensitivity and hemolytic anemia, not neurovisceral crises. *X-linked recessive* - **X-linked recessive** disorders predominantly affect males and are transmitted from carrier mothers to sons, a pattern inconsistent with a female patient with similar episodes in the family. - Common examples like **Hemophilia** or **Duchenne Muscular Dystrophy** have sex-linked inheritance patterns that do not match the presented symptoms or inheritance. *X-linked dominant* - **X-linked dominant** inheritance would show affected fathers passing the trait to all daughters but none of their sons, and affected mothers passing it to half of their children, which is not the typical pattern for AIP. - **X-linked protoporphyria**, a rare porphyria, follows this pattern but presents primarily with severe photosensitivity and hepatobiliary complications, not the neurovisceral attacks seen here. *Mitochondrial* - **Mitochondrial inheritance** is characterized by exclusive **maternal transmission**, meaning all children of an affected mother are affected, but no children of an affected father. This pattern differs from the general family history for AIP. - Mitochondrial disorders primarily affect high-energy-demand organs, and while they can have neurological components, most porphyrias are nuclear-encoded genetic disorders, making mitochondrial inheritance highly unlikely.

Rheumatology & Haematology UK Medical PG Question 2: A 28-year-old woman presents with sudden onset severe headache during exercise. She vomits and has neck stiffness. CT head shows subarachnoid hemorrhage. What is the most likely cause?

• A. Arteriovenous malformation
• B. Berry aneurysm (Correct Answer)
• C. Carotid dissection
• D. Hypertensive hemorrhage
• E. Trauma

Rheumatology & Haematology Explanation: ***Berry aneurysm*** - The sudden onset of a severe, explosive **thunderclap headache** coupled with signs of meningeal irritation (vomiting, neck stiffness) and the finding of **subarachnoid hemorrhage (SAH)** on CT head is the classic presentation of a ruptured saccular (**berry**) aneurysm. - Exertion (exercise) acts as a common trigger for aneurysm rupture due to the sudden increase in **intracranial pressure** and transmural wall stress. *Arteriovenous malformation* - AVMs more commonly present with **intraparenchymal hemorrhage** (ICH) or seizures, rather than isolated SAH, especially when triggered by exertion. - While AVMs can cause SAH, they are a less frequent cause of widespread spontaneous SAH compared to ruptured **berry aneurysms**. *Carotid dissection* - Carotid artery dissection typically manifests as severe neck/facial pain, headache, and signs of **cerebral ischemia** (stroke symptoms) due to vessel stenosis or occlusion. - Dissections rarely cause primary, widespread SAH; they are more often associated with **subintimal hemorrhage** leading to stroke or pseudoaneurysm formation. *Hypertensive hemorrhage* - Hemorrhage due to chronic or severe hypertension (hypertensive hemorrhage) almost exclusively causes deep **intraparenchymal hemorrhage** (ICH), usually in the basal ganglia, thalamus, or brainstem. - The primary finding of SAH, rather than ICH and the patient's young age, makes uncontrolled hypertension highly unlikely as the underlying cause. *Trauma* - Although trauma is the single most frequent overall cause of SAH, the clinical history describes a **spontaneous event** triggered by exertion (exercise) without any external injury. - Traumatic SAH is clinically differentiated by the history of a specific injury and usually involves bleeding adjacent to the site of impact.

Rheumatology & Haematology UK Medical PG Question 3: A 52-year-old woman presents with progressive dysphagia and weight loss. She has tight skin on her hands and face. ANA shows nucleolar pattern. What is the most concerning systemic complication?

• A. Renal crisis
• B. Pulmonary hypertension (Correct Answer)
• C. Cardiac arrhythmias
• D. Digital ulceration
• E. Arthritis

Rheumatology & Haematology Explanation: ***Pulmonary hypertension*** - This patient's presentation with **dysphagia**, **tight skin on hands and face**, and **nucleolar ANA pattern** strongly suggests systemic sclerosis, particularly the limited cutaneous form. - **Pulmonary hypertension** is a common and severe life-threatening complication of systemic sclerosis, especially in the limited cutaneous subtype, requiring vigilant screening and management. *Renal crisis* - **Scleroderma renal crisis** is a severe complication, but it is more frequently associated with **diffuse cutaneous systemic sclerosis** and anti-RNA polymerase III antibodies. - It presents with **malignant hypertension** and rapidly progressive renal failure, which is not suggested as the primary concern here. *Cardiac arrhythmias* - While **cardiac involvement** like myocardial fibrosis and pericarditis can occur in systemic sclerosis, **cardiac arrhythmias** are typically not the most concerning life-threatening systemic complication. - They are less common as a primary life-threatening event compared to **pulmonary hypertension**. *Digital ulceration* - **Digital ulceration** is a common localized vascular manifestation of systemic sclerosis due to **Raynaud's phenomenon** and small vessel disease. - Though it can cause pain, infection, and significant morbidity, it is not considered the most concerning **systemic life-threatening complication**. *Arthritis* - **Arthritis** or arthralgia can occur in systemic sclerosis, often affecting small joints and typically **non-erosive**. - While it contributes to discomfort, it is not considered a major **life-threatening systemic complication** compared to visceral organ involvement like pulmonary hypertension.

Rheumatology & Haematology UK Medical PG Question 4: A 42-year-old woman presents with fatigue, muscle aches, and widespread pain. She has multiple tender points but normal inflammatory markers. Sleep is poor. What is the most appropriate initial treatment?

• A. NSAIDs
• B. Prednisolone
• C. Pregabalin (Correct Answer)
• D. Methotrexate
• E. Physiotherapy alone

Rheumatology & Haematology Explanation: ***Pregabalin*** - **Pregabalin** is a **gabapentinoid** drug that modulates voltage-gated calcium channels, decreasing the release of excitatory neurotransmitters involved in central pain sensitization characteristic of **fibromyalgia**. - It is one of the FDA-approved medications (along with duloxetine and milnacipran) specifically recommended for managing the **widespread pain** and associated symptoms like **poor sleep** in fibromyalgia. *NSAIDs* - Non-steroidal anti-inflammatory drugs (NSAIDs) target inflammatory pain, which is generally absent in **fibromyalgia** as evidenced by **normal inflammatory markers**. - NSAIDs are usually **ineffective** in treating the centralized pain and hyperalgesia seen in this condition, making them a poor choice for monotherapy. *Prednisolone* - **Prednisolone** is a powerful corticosteroid used for conditions driven by **inflammation** (e.g., active arthritis or vasculitis). - The patient has normal inflammatory markers and a clinical presentation consistent with a non-inflammatory central pain syndrome, making steroids **inappropriate** and potentially harmful. *Methotrexate* - **Methotrexate** is a **Disease-Modifying Anti-Rheumatic Drug (DMARD)** indicated for managing autoimmune inflammatory diseases like **Rheumatoid Arthritis** or **Psoriatic Arthritis**. - Since the patient does not show evidence of an inflammatory or autoimmune joint disease, this immunosuppressant drug treatment is **not warranted**. *Physiotherapy alone* - While non-pharmacological therapies like **aerobic exercise** and **Cognitive Behavioral Therapy (CBT)** are essential long-term components, they are often insufficient alone to manage severe initial symptoms, particularly **poor sleep** and disabling pain. - Initial treatment typically requires a combination of pharmacological agents (like **Pregabalin**) combined with supportive non-pharmacological management for optimal symptom control.

Rheumatology & Haematology UK Medical PG Question 5: A 52-year-old man presents with progressive dysphagia and weight loss. He has tight skin on his hands and Raynaud's phenomenon. What is the most likely esophageal abnormality?

• A. Esophageal carcinoma
• B. Achalasia
• C. Esophageal dysmotility (Correct Answer)
• D. Peptic stricture
• E. Eosinophilic esophagitis

Rheumatology & Haematology Explanation: ***Esophageal dysmotility***- The combination of **tight skin (scleroderma)** and **Raynaud's phenomenon** is characteristic of **Systemic Sclerosis**, which causes atrophy and fibrosis of smooth muscle in the distal two-thirds of the esophagus.- This loss of smooth muscle function leads to decreased peristalsis (dysmotility) and, crucially, incompetence of the **lower esophageal sphincter (LES)**, causing severe GERD and the resulting dysphagia.*Esophageal carcinoma*- While progressive **dysphagia** and **weight loss** are concerns for malignancy, the patient's systemic features (**tight skin**, **Raynaud's**) strongly suggest a connective tissue disorder as the etiology.- Carcinoma often occurs in the context of significant risk factors (e.g., smoking, alcohol, HPV) and typically does not present with the classic dermatologic or peripheral vascular signs of Scleroderma.*Achalasia*- Achalasia involves impaired relaxation of the **LES** and aperistalsis, but it is a primary esophageal motility disorder and lacks the systemic features (Raynaud's, sclerodactyly) seen in this patient.- Dysphagia in achalasia tends to be prominent for both **liquids and solids** from the start, often without significant GERD symptoms.*Peptic stricture*- A **peptic stricture** is a *consequence* of chronic acid exposure resulting from the incompetent LES caused by Scleroderma-related esophageal dysmotility.- While a stricture may eventually explain the severe dysphagia, the primary diagnostic link between the systemic symptoms and the esophageal pathology is the **underlying smooth muscle failure** (dysmotility).*Eosinophilic esophagitis*- This condition is typically associated with **atopic disorders** (allergies, asthma) and presents histologically with excessive **eosinophil infiltration**.- It typically causes dysphagia, often for solids, and sometimes **food impaction**, but it is not linked to generalized fibrosis or vascular changes like those causing tight skin and Raynaud's phenomenon.

Rheumatology & Haematology UK Medical PG Question 6: A 46-year-old woman presents with fatigue, muscle weakness, and purple discoloration around her eyes. She has Gottron's papules over her knuckles. CK is 3800 U/L. What is the most important investigation?

• A. EMG
• B. Muscle biopsy
• C. CT chest/abdomen/pelvis (Correct Answer)
• D. Myositis antibodies
• E. Echocardiogram

Rheumatology & Haematology Explanation: ***CT chest/abdomen/pelvis*** - The most important investigation in a patient with new-onset **dermatomyositis**, especially in a middle-aged or older individual, is a thorough screening for **underlying malignancy**. - Approximately 15-30% of patients with dermatomyositis have an associated cancer, making **malignancy screening** crucial for prognosis and management. *EMG* - While an **EMG** can show **myopathic changes** (e.g., fibrillation potentials, small-amplitude polyphasic motor unit potentials) consistent with inflammatory myopathy, it primarily confirms muscle involvement. - Confirming muscle involvement is important diagnostically, but ruling out an **associated malignancy** takes precedence given its significant impact on patient survival. *Muscle biopsy* - A **muscle biopsy** is often considered the gold standard for diagnosing inflammatory myopathies, showing characteristic **perifascicular atrophy** and inflammation in dermatomyositis. - However, while confirming the diagnosis, the immediate priority in this clinical picture is to identify or exclude a potentially life-threatening **underlying malignancy**. *Myositis antibodies* - **Myositis-specific antibodies** (e.g., anti-Jo-1, anti-MDA5, anti-TIF1γ) are useful for classifying inflammatory myopathies, predicting disease course, and assessing specific associations (e.g., malignancy risk with anti-TIF1γ). - While helpful diagnostically and for risk stratification, these antibodies do not directly screen for an **underlying malignancy**; imaging is required for that purpose. *Echocardiogram* - An **echocardiogram** assesses cardiac function and can detect myocardial involvement, which can occur in inflammatory myopathies (e.g., myocarditis, heart failure). - While cardiac complications can arise, they are not the *most important initial investigation* when the clinical picture strongly suggests **dermatomyositis** with its significant risk of an **underlying malignancy**.

Rheumatology & Haematology UK Medical PG Question 7: A 48-year-old man presents with progressive muscle weakness affecting proximal muscles. CK is elevated at 3200 U/L. Muscle biopsy shows inflammatory infiltrates. What is the cancer screening recommendation?

• A. No screening needed (Correct Answer)
• B. Chest X-ray only
• C. CT chest/abdomen/pelvis
• D. Colonoscopy only
• E. PSA testing only

Rheumatology & Haematology Explanation: ***No screening needed***- The clinical presentation of **progressive proximal muscle weakness**, elevated **CK**, and **inflammatory infiltrates** on muscle biopsy is consistent with **polymyositis**.- Unlike **dermatomyositis**, which has a strong association with occult malignancies, **polymyositis** is generally not associated with an increased risk of cancer, therefore **routine cancer screening** is not indicated. *Chest X-ray only*- A **chest X-ray** is a limited screening tool and would be insufficient to detect a wide range of potential malignancies associated with paraneoplastic syndromes.- It would miss cancers in other vital organs, making it an inadequate approach if malignancy were suspected. *CT chest/abdomen/pelvis*- This extensive imaging is typically recommended for patients with **dermatomyositis** due to its strong association with various occult malignancies.- In the absence of dermatomyositis-specific features (e.g., characteristic skin rashes) or other malignancy risk factors, such broad screening is not indicated for **polymyositis**. *Colonoscopy only*- While gastrointestinal malignancies can be associated with paraneoplastic syndromes, performing **colonoscopy** alone is insufficient for comprehensive cancer screening.- This approach would overlook other common cancer sites linked to inflammatory myopathies, such as lung, breast, or ovarian cancers. *PSA testing only*- **PSA testing** is specific for prostate cancer screening and would be part of a more comprehensive workup, not the sole screening measure for malignancy.- Focusing solely on prostate cancer would miss other potential malignancies that might be associated with paraneoplastic syndromes in other forms of inflammatory myopathies.

Rheumatology & Haematology UK Medical PG Question 8: A 41-year-old woman presents with recurrent miscarriages and arterial thrombosis. She has positive lupus anticoagulant and anticardiolipin antibodies. What is the most appropriate long-term treatment?

• A. Aspirin alone
• B. Warfarin (INR 2-3) (Correct Answer)
• C. Clopidogrel
• D. LMWH
• E. No treatment

Rheumatology & Haematology Explanation: ***Warfarin (INR 2-3)***- For patients with **Antiphospholipid Syndrome (APS)** who have experienced a confirmed thrombotic event (arterial or venous), **vitamin K antagonists** like **Warfarin** are the mainstay of long-term secondary prevention.- Given the history of **arterial thrombosis**, a target **International Normalized Ratio (INR)** of 2.0 to 3.0 is typically recommended, as this range effectively reduces the risk of recurrent thrombotic events in APS.*Aspirin alone*- Aspirin is generally reserved for primary prophylaxis in high-risk, asymptomatic carriers of antiphospholipid antibodies or often used as **adjuvant therapy**, but it is insufficient as monotherapy following a definite **arterial thrombotic event** in APS.- The risk of recurrence after thrombosis in APS is high, necessitating **full anticoagulation**, which **Aspirin** (an antiplatelet agent) cannot provide effectively.*Clopidogrel*- Clopidogrel is an antiplatelet agent often used for high-risk cardiovascular conditions but is not the standard first-line agent for the prevention of recurrent **thrombosis** associated with APS, which requires potent **anticoagulation**.- Like aspirin, **antiplatelet therapy** alone does not adequately address the highly procoagulant nature of circulating **lupus anticoagulant** and other antiphospholipid antibodies following a thrombotic episode.*LMWH*- **Low Molecular Weight Heparin (LMWH)** is the preferred treatment for APS patients during **pregnancy** (for fetal and maternal health) or during acute thrombotic events.- While effective, LMWH is impractical for **lifelong secondary prevention** outside of pregnancy due to the requirement for daily subcutaneous injections.*No treatment*- This patient has classic features of **definite Antiphospholipid Syndrome (APS)**, including required laboratory criteria and clinical thrombotic events (arterial thrombosis and pregnancy morbidity).- Untreated patients with a history of **APS-related thrombosis** face a very high risk of **recurrent life-threatening events**, making therapy mandatory.

Rheumatology & Haematology UK Medical PG Question 9: A 38-year-old woman presents with fatigue, joint pain, and photosensitive rash. ANA is positive 1:640, anti-dsDNA is positive, and complement levels are low. Urinalysis shows proteinuria and RBC casts. What is the most appropriate initial treatment?

• A. NSAIDs
• B. Hydroxychloroquine
• C. High-dose prednisolone (Correct Answer)
• D. Methotrexate
• E. Rituximab

Rheumatology & Haematology Explanation: ***High-dose prednisolone***- This patient presents with features of **severe active Systemic Lupus Erythematosus (SLE)**, confirmed by high-titer ANA, positive anti-dsDNA, low complement, and active **Lupus Nephritis** (proteinuria, RBC casts).- **High-dose glucocorticoids** (e.g., prednisolone or methylprednisolone pulses) are the cornerstone initial treatment to rapidly induce remission and prevent irreversible damage in severe, active organ-threatening SLE.*NSAIDs*- **NSAIDs** are reserved for mild disease manifestations, typically musculoskeletal symptoms such as arthralgia or non-erosive arthritis, without major organ involvement.- They are generally avoided in active severe **Lupus Nephritis** as they carry a risk of exacerbating renal impairment or non-steroidal induced nephropathy.*Hydroxychloroquine*- **Hydroxychloroquine** is foundational maintenance therapy for almost all SLE patients, reducing flares, preventing damage accrual, and improving survival.- It acts slowly and is **insufficient as monotherapy** to control acute, severe, organ-threatening disease activity like active nephritis, which requires immediate, potent immunosuppression.*Methotrexate*- **Methotrexate** is typically considered for non-organ-threatening manifestations of SLE, such as refractory arthritis or treatment-resistant rash, when hydroxychloroquine fails.- It is not the most appropriate initial agent for acute, severe flares with major organ involvement requiring immediate, high-level immunosuppression.*Rituximab*- **Rituximab** (a B-cell depleting therapy) is a biologic agent usually reserved for SLE that is refractory (non-responsive) to standard induction therapies.- It is not generally recommended as the **first-line initial treatment** for a newly diagnosed major organ flare before high-dose corticosteroids and standard immunosuppressants have been utilized.

Rheumatology & Haematology Flashcard 1 of 10

Question: Haemochromatosis can cause arthropathy, especially in _____ joints with "hook-like" osteophytes

Answer: metocarpophalangeal (MCP)

Rheumatology & Haematology Flashcard 2 of 10

Question: The variables involved in assesing the ORBIT score is: _____ Age >74 Bleeding History (GI bleeding, Intracranial bleeding or haemorrhagic stroke Renal Impairment (GFR <60) Treatment with antiplatelet agents

Answer: Haemoglobin <130g/L in makes <120g/L in females Anaemia

Rheumatology & Haematology Flashcard 3 of 10

Question: Rheumatoid arthritis often has _____cytic anaemia

Answer: normo

Rheumatology & Haematology Flashcard 4 of 10

Question: What investigations should be ordered for suspected psoriatic arthritis? _____, inflammatory markers, Rheumatoid factor, Anti-CCP

Answer: X-ray of hands and feet

Rheumatology & Haematology Flashcard 5 of 10

Question: D-Dimer is a marker of _____

Answer: fibrin degredation

Rheumatology & Haematology Flashcard 6 of 10

Question: Management of No Bleeding on warfarin when INR 5.0-8.0 involves: _____ Reduce subsequent maintenance dose

Answer: Withhold 1 or 2 doses of warfarin

Rheumatology & Haematology Flashcard 7 of 10

Question: Sodium valproate can cause _____ and Hyponatremia

Answer: thrombocytopenia

Rheumatology & Haematology Flashcard 8 of 10

Question: Metastatic Bone Pain may responsd to _____, bisphosphonates or radiotherapy

Answer: strong opioids

Rheumatology & Haematology Flashcard 9 of 10

Question: APL can be distinguised from other types of AML based on: _____ Repsonsivness to all-trans retinoic acid (ATRA: tretinoin)

Answer: Prescence of promyelocytes containing multiple Auer Rods

Rheumatology & Haematology Flashcard 10 of 10

Question: Management of No Bleeding on warfarin when INR >8.0 involves: _____ Repeat dose of vit K if INR still too high after 24 hours Restart when INR <5.0

Answer: Give vitamin K 1-5mg by mouth, using the IV preparation orally