Rheumatology III Flashcards
Describe the typical presentation of dermatomyositis
Also what is the difference in presentation between polymyositis vs dermatomyositis?
Skin features
* photosensitive
* macular rash over back and shoulder
* heliotrope rash in the periorbital region
* Gottron’s papules - roughened red papules over extensor surfaces of fingers
* ‘mechanic’s hands’: extremely dry and scaly hands with linear ‘cracks’ on the palmar and lateral aspects of the fingers
* nail fold capillary dilatation
Other features:
- Proximal muscle weakness - difficulty standing off chairs
- Myalgia
- Raynaud’s
- ILD
NB: polymyositis doesnt present with skin features
Describe the investigations used for dermatomyositis [4]
Which antibody is most associated with polymyositis? [1]
- the majority of patients (around 80%) are ANA positive
- Elevated CK
- Skin and muscle bx can confirm dx
- EMG - to distinguish from neuropathy
- TOMTIP - anti-Jo1 antibodies are associated with polymyositis
Mx for dermatomyositis? [1]
1st line: Prednisolone
Behcets is associated with which gene? [1]
There is a link with the HLA B51 gene.
Describe a typical patient suffering from Behcets. [1]
Describe the possible presentation of Behcets [+]
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
Describe what is meant by the pathergy test
The pathergy test:
- involves using a sterile needle to make multiple pricks on the forearm.
- The area is reviewed 24-48 hours later to look for erythema (redness) and induration (thickening), indicating non-specific skin hypersensitivity.
- A positive result can indicate Behçet’s disease, Sweet’s syndrome or pyoderma gangrenosum.
PassMed:
- +ve result: puncture site following needle prick becomes inflamed with small pustule forming)
Describe the treatment of Behcets
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.
Describe what is meant by Neuro-Behcet’s syndrome (a nervous system complication of Behcets) [2]
Meningoencephalitis symptoms such as headache, fever, stiff neck and neurological deficits.
It may also present with parenchymal lesions or cerebral venous sinus thrombosis.
anterior uveitis
thrombophlebitis and deep vein thrombosis
Define Ehler-Danlos syndrome [1]
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.
Describe the different types of Ehlers-Danlos syndromes [4]
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.
TOM TIP: It is worth being familiar with relatively common hypermobile Ehlers-Danlos syndrome and remembering some key features of the other types to spot them in your exams.
Which features are typical for classic EDS? [2]
Which features are typical for vascular EDS? [1]
Classical EDS:
- Extremely stretchy skin
- Severe joint hypermobilitiy
Vascular EDS:
- Thin translucent skin
- Blood vessel rupture
Hypermobile Ehlers-Danlos syndrome is associated with which pathology? [1]
Describe the symptoms [3]
Postural orthostatic tachycardia syndrome (POTS)
- Significant tachycardia occurs on sitting or standing, and symptoms include presyncope (lightheadedness), syncope (loss of consciousness), headaches, disorientation, nausea and tremor.
TOM TIP: It is worth learning and remembering to use the [] score to assess patients for hypermobility.
TOM TIP: It is worth learning and remembering to use the Beighton score to assess patients for hypermobility.
DcSSc has which clinical features?
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.
Describe the colour changes in Raynaud’s [3]
Raynaud’s phenomenon is where the fingertips change colour in response to even mildly cold triggers (e.g., opening the fridge). It is caused by vasoconstriction of the vessels supplying the fingers. The typical pattern is:
First white, due to vasoconstriction
Then blue, due to cyanosis
Then red, due to reperfusion and hyperaemia
Describe what is meant by nailfold capillaroscopy [2]
How do you use this investigation to assess SS? [1]
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.
Which antibodies are associated with SS? [3]
Serology:
* Antinuclear antibodies (ANA) are positive in most patients with systemic sclerosis. They are non-specific.
* anti-scl-70 antibodies associated with diffuse cutaneous systemic sclerosis
* anti-centromere antibodies associated with limited cutaneous systemic sclerosis
Describe the management of SSc
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
What are the leading causes of mortality in SSc?
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
Antibodies:
* [] is associated with ILD
* [] are associated with PAH.
- Anti-Scl-70 (anti-topoisomerase I) is associated with ILD
- anti-centromere antibodies are associated with PAH.
Which drugs do you use to tx the arthritis in SSc? [1]
Methotrexate
