Final Rheum I Flashcards

Question

Describe the medical management of AS [3]

Answer 1

- Regular exercise like swimming - First line treatment: **NSAIDS** - Physiotherapy - Second line: **Anti-TNF**: for patients with persistently high disease activity; e.g. **adalimumab** - Third line: **IL-17 antibodies: Secukinumab or ixekizumab** ## Footnote - **DMARDs** only useful in peripheral joint involvement

Answer 2

**Limited lumber movement** **Reduced chest expansion** **Radiological changes:** - Progressive loss of joint space --> sclerosis --> **fibrosis of joints** - CXR: **apical fibrosis** - **Syndesmophytes**: formation of bony bridges that fuse - **causes bamboo spine** ## Footnote Complete fusion of sacro-iliac joint on right photo

Answer 3

**Apical fibrosis** **Anterior uveitis** **Aortic regurgitation** **Achilles tendonitis** **AV node block** **Amyloidosis** and **cauda equina syndrome**

Answer 4

aortitis, aortic regurgitation, conduction abnormalities and ischemic heart disease.

Answer 5

**Treatment of arthritis** - first-line therapy for acute phase: **NSAIDs** - **Corticosteroids**: during an acute flare, or unresponsive to NSAIDs. - **DMARDs**: **Sulfasalazine** is effective in peripheral disease and has little or no effect on spinal disease; **Methotrexate** is effective in treating both acute and chronic ReA especially, in patients with spinal involvement. - **Anti-TNF-α therapy:** **Etanercept** is an emerging therapy, **Antibiotics** for acute Chlaymdia infection - **doxycycline or azithromycin** ## Footnote **NB** - Antibiotics may be given until septic arthritis is excluded.

Answer 6

**Joint pain & swelling** (without joint destruction) **Malar rash** - spares nasolabial folds. Feels inflammed **Mouth ulcers** **Reynauds** **Livedo reticularis** - broken lattice work in inflam. disease **Photosensitivity** **Lupus nephritis** **Alopecia** **Discoid erythematosus** **Lymphadenopathy**

Answer 7

**Skin**: - **hydroxychloroquine** or azathriopine. **Joints** - hydroxychloroquine or methotrexate **Vital organs:** - Azathriopine - MMF - Cyclophosphamide - esp. if renal involvement **PassMed**: All patients - **hydroxychloroquine** **Mild Disease**: - hydroxychloroquine & low dose pred. - Methotrexate and NSAIDs can also be used **Moderate disease:** - hydroxychloroquine with short term pred. - Additional agents may include methotrexate, azathioprine, mycophenolate and ciclosporin. **Severe disease:** - induction therapy of intense immunosuppressants and then maintenence - DMARDs (methotrexate; MMF; cyclophoshamide) & Biologics (Rituximab; Belimumab) may also be used

Answer 8

**Assess clinical features:** - **dry eyes** > 3 months; use of tear substitutes more than three times daily or presence of keratoconjunctivitis sicca with ocular staining score ≥3. - **dry mouth** consistently **Serology**: - anti-Ro; anti-La - Elevated IgG levels **Further tests:** - **Schirmer's test** - < 5 mm/5mins wetting and / or Rose Bengal scores of > 4 - **Sialometry** < 1.5ml/15mins **Histopathology** - Lip biopsy exhibiting focal lymphocytic sialadenitis with a focus score ≥1 per 4 mm² glandular tissue area.

Answer 9

**Nephritis**: - Lupus nephritis: can lead to proteinuira; haematuria; end stage kidney disease **CV disease**: - CAD; myocarditis; pericarditis; heart failure **Pulmonary**: - ILD; pulmonary HTN; acute lupus pneumonitis **Neuropsyc:** - Head and mood to stroke or seizures **Hematologic abnormalities**: - leukopenia, lymphopenia, thrombocytopenia and autoimmune hemolytic anaemia.

Answer 10

* **topical steroid cream** * oral **antimalarials** may be used second-line e.g. **hydroxychloroquine** * **avoid sun exposure**

Answer 11

Aberrant immune response - **autoreactive T cells become activated and infiltrate exocrine glands.** Within the affected glands, there is a marked increase in pro-inflammatory cytokines including interleukin-1 (IL-1), tumour necrosis factor-alpha (TNF-α), and interferon-gamma (IFN-γ). The local inflammatory milieu results in glandular dysfunction through both direct cytotoxic effects on acinar epithelial cells and disruption of normal glandular architecture. **B cell hyperactivity** is another hallmark of Sjögren's syndrome. There is **increased production of autoantibodies such as anti-Ro/SSA and anti-La/SSB,** which are directed complexes within the nucleus of glandular epithelial cells. **These autoantibodies** may contribute to **tissue damage either directly or via immune complex formation and deposition within glandular tissues**. Chronic inflammation leads to **fibrosis and atrophy of the exocrine glands over time**. The resultant loss of functional **acinar cells impairs saliva and tear production**, manifesting clinically as dry mouth and dry eyes.

Answer 12

**Primary treatment options:** * **Artificial tears** (e.g., polyvinyl alcohol eye drops during the day and carbomer gel at night) * **Artificial saliva** * **Vaginal lubricants** * **Pilocarpine** (oral) can be used to stimulate tear and saliva production * **Hydroxychloroquine** may be considered, mainly in patients with associated joint pain **Secondary treatment options** are usually prescribed by an ophthalmologist and include: * **Topical NSAIDs or Corticosteroids**: usually short-term use. Associated with corneal complications long-term. * **Topical cyclosporin**: reserved for patients needing recurrent courses of topical steroid. * **Serum tear drops:** application of autologous or allogenic serum. Variable efficacy. Treatment of systemic disease SS with extraglandular involvement is seen in around 70% of patients and may be severe in 15%. Systemic therapies are generally restricted to patients with severe active disease as measured by the ESSDAI. There are certain criteria, based on the ESSDAI, for initiating therapy. **Systemic therapy options include:** **Corticosteroids (First line):** - may be given as a ‘pulse’ of methyprednisolone followed by maintenance. A pulse refers to a short course of high dose steroids (often 1-3 days). Higher doses of maintenance may be needed for more severe disease. The aim is to withdraw steroids completely or get to a maintenance dose of 5 mg/day or less. **Immunosuppressive agents (second line):** - these may be considered in patients with severe, or uncontrolled, disease that would otherwise need long-term steroids. There is no evidence to support one immunosuppressive agent over another. Options include Leflunomide (pyrimidine synthesis inhibitor), Methotrexate (Dihydrofolate reductase inhibitor), Azathioprine and Mycophenolate (Purine synthesis inhibitors) and Cyclophosphamide (alkylating chemotherapy agent that crosslinks DNA and RNA) **Monoclonal antibodies (third line):** - Patient with severe SS that is refractory to treatment may be treated with immunosuppressive agents that target B lymphocytes. For example, rituximab (monoclonal antibody to CD-20). ## Footnote **NB**: Pilocarpine stimulates muscarinic receptors, stimulating the parasympathetic nerves and promoting salivary and lacrimal gland secretion.

Answer 13

**Libmann-Sacks endocarditis** is a non-bacterial endocarditis with growths (vegetations) on the heart valves (most often the mitral and aortic valves). It is associated with SLE and antiphospholipid syndrome.

Answer 14

**primary thromboprophylaxis** - low-dose aspirin **secondary thromboprophylaxis** * initial venous thromboembolic events: **lifelong warfarin with a target INR of 2-3** * recurrent venous thromboembolic events: **lifelong warfarin**; if occurred whilst taking warfarin then consider **adding low-dose aspirin, increase target INR to 3-4** * **arterial thrombosis** should be treated with lifelong warfarin with **target INR 2-3**

Answer 15

**A typical presentation of Behcet's syndrome might involve a patient in their twenties or thirties presenting with recurrent oral and genital ulcers, accompanied by uveitis** **Oral & genital ulceration** - typically painful, round or oval, with a yellow-grey pseudomembrane surrounded by a red halo. **Uveitis** - can lead to blindness **Skin lesions** **VTE/arterial thrombosis** **GI symptoms**: - abdominal pain, diarrhoea or gastrointestinal bleeding **CNS**: - aseptic meningitis and cerebral venous sinus thrombosis

Answer 16

**Topical treatments:** * For oral and genital ulcers, **topical corticosteroids** are frequently employed. * **Topical anaesthetics** may also be used for pain relief. **Corticosteroids**: * Systemic corticosteroids are administered in cases with severe manifestations such as ocular disease or vascular involvement. * **Prednisolone is often the first-line treatment.** **Disease-modifying anti-rheumatic drugs (DMARDs):** - **Methotrexate, azathioprine, and cyclosporine** can be used as steroid-sparing agents or in patients unresponsive to corticosteroids. **Biologic therapy:** - **Anti-TNF agents** like **infliximab** and **adalimumab** have shown efficacy in refractory cases or those with major organ involvement. Interferon-alpha may be considered for refractory uveitis. **Cytotoxic agents**: - **Cyclophosphamide** may be employed for severe vasculitis or neurological involvement.

Answer 17

**Meningoencephalitis symptoms** such as **headache, fever, stiff neck and neurological deficits.** It may also present with **parenchymal lesions** or **cerebral venous sinus thrombosis.**

Answer 18

**anterior uveitis**

Answer 19

thrombophlebitis and deep vein thrombosis

Answer 20

Ehler-Danlos syndrome is an **autosomal dominant connective tissue disorder** that mostly affects **type III collagen**. This results in the tissue being more **elastic** than normal leading to **joint** **hypermobility** and **increased elasticity of the skin.**

Answer 21

**Hypermobile Ehlers-Danlos syndrome** - is the **most common** and **least severe type of Ehlers-Danlos syndrome** (although it still causes significant disability and psychosocial issues). - The key features are **joint hypermobility and soft and stretchy skin.** - A single gene for hypermobile EDS has not been identified. It appears to be inherited in an autosomal dominant pattern. **Classical Ehlers-Danlos syndrome** - features **remarkably stretchy skin that feels smooth and velvety.** - There is **severe joint hypermobility, joint pain and abnormal wound healing**. - **Lumps** often develop over pressure points, such as the **elbows**. Patients are prone to **hernias**, **prolapses**, **mitral** **regurgitation** and **aortic root dilatation.** Inheritance is autosomal dominant. **Vascular Ehlers-Danlos syndrome** - is the **most severe and dangerous form of EDS**, where the **blood vessels are particularly fragile and prone to rupture**. - Patients have **characteristic thin, translucent skin.** Other features include **gastrointestinal** **perforation** and **spontaneous** **pneumothorax**. - Patients are monitored for vascular abnormalities and told to seek urgent medical attention for sudden unexplained pain or bleeding. Inheritance is autosomal dominant. **Kyphoscoliotic Ehlers-Danlos syndrome** - is characterised **initially by poor muscle tone** (hypotonia) as a **neonate** and **infant**, followed by **kyphoscoliosis** as they grow. - There is **significant joint hypermobility. Joint dislocation is common**. - Inheritance is autosomal recessive.

Answer 22

**Classical EDS:** - Extremely stretchy skin - Severe joint hypermobilitiy **Vascular EDS:** - Thin translucent skin - Blood vessel rupture

Answer 23

Includes **CREST** AND: **Skin**: - Thickening, tightening **(Sclerodactyly)**, and hardening (**scleroderma**) of the skin, which typically starts in the fingers and progresses proximally - **Calcinosis**. **Raynaud's phenomenon:** - Vasospasm-induced color changes (pallor, cyanosis, and erythema) in the fingers and toes in response to cold or stress. **Gastrointestinal involvement:** - Dysphagia, gastroesophageal reflux, and motility disorders affecting the esophagus, stomach, and intestines. **Pulmonary involvement:** - Interstitial lung disease (ILD) and pulmonary arterial hypertension (PAH) are common complications, which can cause shortness of breath, cough, and chest pain. **Renal involvement:** - Scleroderma renal crisis, characterized by rapidly progressive renal failure and **malignant hypertension**, is a life-threatening complication of SSc. **Musculoskeletal involvement:** - Joint pain, stiffness, and contractures due to fibrosis of the joint capsules and tendons.

Answer 24

**Nailfold capillaroscopy** - is a technique to **magnify** and **examine** the **peripheral capillaries** where the skin meets the base of the fingernail (**the nail fold)**. - **Abnormal capillaries, avascular areas and micro-haemorrhages suggest systemic sclerosis** - Patients with **Raynaud’s disease (without systemic sclerosis**) have **normal** nailfold capillaries.

Answer 25

Treatment focuses on symptom management **Vasodilator therapy** - especially for Raynaud's - **Nifedipine** - phosphodiesterase-5 inhibitors - prostacyclin analogues **Pulmonary HTN:** - **Sildenafil** - **bosentan** (endothelin receptor antagonists) **Digital Ulcers:** - **Intravenous iloprost** - **bosentan** **Gastrointestinal management:** - **PPIs** - Prokinetics - **metoclopramide** **Renal management** - **ACEIs** is crucial in the management of scleroderma renal crisis. **Immunosuppressive therapy:** - Corticosteroids, methotrexate, mycophenolate mofetil, and cyclophosphamide can be used to reduce inflammation

Answer 26

**Pulmonary Disease:** ILD and PAH are the leading causes of death in SSc. Early detection and intervention can improve outcomes. * **Interstitial Lung Disease (ILD):** Often occurs in **dcSSc**. Progressive fibrosis can lead to respiratory failure. * **Pulmonary Arterial Hypertension (PAH):** More common in **lcSSc**. It carries a high mortality risk, especially if not detected and treated early. **Scleroderma Renal Crisis:** * Characterised by sudden-onset hypertension and renal impairment

Answer 27

**Methotrexate**

Answer 28

Due to hyperuricaemia: **Inherited causes** - Lesch-Nyhan syndrome **Acquired causes** - XS purine - malignancy - XS alcohol **Underexcretion**: - renal disease - lead nephropathy - hypothyroidism **Drugs**: - **Thiazides** - **Aspirin** (low dose) - **Alcohol** - **Ciclosporin**

Answer 29

**General advice**: - Advise rest, ice and elevation. - Lifestyle measures such as weight loss, diet and alcohol consumption should be discussed. **First-line therapy**: - Offer **NSAIDs** (e.g. naproxen) **OR** oral **colchicine**. - Co-prescribe a **PPI** for gastric protection if giving an NSAID. **Aspirin is not indicated.** **Second-line therapy:** - If NSAIDs or colchicine are ineffective or contraindicated - **prednisolone** 15mg/day can be used ## Footnote **NB**: if the patient is already taking allopurinol it should be continued

Answer 30

**Lesch-Nyhan syndrome**

Answer 31

* **haemochromatosis** * **hyperparathyroidism** * **acromegaly** * **low magnesium, low phosphate** * **Wilson's disease**

Answer 32

**Rare type of inflammatory arthritis** - causes **attacks** of **joint** **pain** and **swelling**, the **symptoms** **disappear**, and the affected joints **go back to normal** with no lasting damage Half of the people who have palindromic rheumatism eventually develop **rheumatoid arthritis (RA)** Tx: - NSAIDS - Colchicine -

Answer 33

**Macrophage activation syndrome (MAS)**: - massive inflammatory response **Presentation**: - DIC - Anaemia - Thrombocytopenia - Bleeding - Non-blanching rash - **Low ESR**

Final Rheum I Flashcards

(57 cards)