Other Rheum Flashcards

Question

ANA pattern, associated disease and associated autoantibodies

Answer 1

- Centromere: CREST/limited scleroderma, anti-centromere - Diffuse (homogenous): RA/SLE/drug induced lupus Anti dsDNA Anti histone Anti nucelosome - Nucleolar: SLE, systemic sclerosis anti-nucleolar anti-SCL70 - Peripheral: SLE, anti-dsDNA - Speckled: SLE, systemic sclerosis, CREST, sjogrens, mixed connective tissue disease, DM/PM anti-smith, RNP, Ro, La, Mi2, jo1, SCL70

Answer 2

Relapsing polychondritis is a multi-systemic condition characterised by repeated episodes of inflammation and deterioration of cartilage. This most commonly affects the ears, however, can affect other parts of the body such as the nose and joints. Key features: Ears: auricular chondritis, hearing loss, vertigo Nasal: nasal chondritis → saddle-nose deformity Respiratory tract: e.g. hoarseness, aphonia, wheezing, inspiratory stridor Ocular: episcleritis, scleritis, iritis, and keratoconjunctivitis sicca Joints: arthralgia Less commonly: cardiac valvular regurgitation, cranial nerve palsies, peripheral neuropathies, renal dysfunction Diagnosis: Various scoring systems based on clinical, pathological, and radiological criteria Treatment Induce remission: steroids Maintenance: azathioprine, methotrexate, cyclosporin, cyclophosphamide

Answer 3

SItS Supraspinatus Infraspinatus Teres Minor Subscapularis Supraspinatus: aBDucts arm before deltoid Most commonly injured Infraspinatus: Rotates arm laterally teres minor: aDDucts & rotates arm laterally Subscapularis: aDDuct & rotates arm medially

Answer 4

- Glycogen storage disorders are hereditary metabolic disorders characterized by defects in the enzymes responsible for glycogenolysis or glycolysis - Autosomal RECESSIVE 6 main types - a Very Presumptuous Corgi Ambles in the the Middle of the Highway - Type 1: von Gierke, glucose 6 phosphatase mutation on chromosome 17 - Type 2: pompe - GAA gene mutation on chromosome 17 leading to lysosomal a-1,4 glucosidase deficiency - Type 3: Cori disease - Type 4: Andersen - Type 5: McArdle - Type 6: Hers disease .

Answer 5

autosomal recessive type V glycogen storage disease caused by myophosphorylase deficiency this causes decreased muscle glycogenolysis Features - muscle pain and stiffness following exercise - muscle cramps - myoglobinuria - low lactate levels during exercise because not enough glucose is produced Generalized muscle weakness, exercise intolerance (with a second wind phenomenon): Symptoms of muscle fatigue disappear after a period of activity because of increased muscular blood flow. - Glycogen accumulates in muscles, but can not be metabolized due to enzyme deficiency - Normal serum glucose McArdle affects the Muscles

Answer 6

- Type 1 - Autosomal RECESSIVE - Mutation of glucose 6 phosphatase located on chromosome - Glycogen unable to be broken down to glucose so cause hypoglycaemia, weakness, poor growth. - Due to accumulation of glucose 6 phosphate, this causes (a) Increased pyruvate: lactic acidosis (b) Increased acetyl CoA: hypertriglyceridemia, hyperlipidemia (c) Increased ribose 5 phosphate: hyperuricemia - Cause neurological abnormalities: seizures, lethargy, weakness due to hypoglycemia - Growth and developmental delay - Hepatomegaly Ix Genetic testing for glucose 6 phosphatase mutation on chromosome 17 Tx Diet of complex carbs Avoid fructose and galactose as they can break down to glucose 6 phosphate

Answer 7

- Type 2 glycogen storage disorder - Autosomal RECESSIVE - Mutation of GAA gene --> prevent the production of lysosomal acid alpha-1,5 glucosidase --> prevents glycogen breakdown and glycogen buildup cause cellular damage and destruction ``` Infantile Form - Little or no enzyme - First few months of life - HOCM, skeletal muscle weakness (diaphragm and other breathing muscles) - Enlarged liver due to heart failure - Large tongue Pompe punishes Pump, Liver and Muscle ``` Late Onset - Reduced enzyme - Any age - Proximal limb weakness - Progressive diaphragm weakness - Does not have heart inovlvement ``` Ix - Elevated CK - Low a- glucosidase - Gene sequencing GAA Tx - Enzyme replacement ``` Pompe: tend to have predominant respiratory muscle weakness as presenting weakness

Answer 8

An iliopsoas abscess describes a collection of pus in iliopsoas compartment (iliopsoas and iliacus). Primary Haematogenous spread of bacteria Staphylococcus aureus: most common ``` Secondary Crohn's (commonest cause in this category) Diverticulitis, colorectal cancer UTI, GU cancers Vertebral osteomyelitis Femoral catheter, lithotripsy Endocarditis intravenous drug use ``` Note the mortality rate can be up to 19-20% in secondary iliopsoas abscesses compared with 2.4% in primary abscesses. ``` Clinical features Fever Back/flank pain Limp Weight loss ``` Clinical examination Patient in the supine position with the knee flexed and the hip mildly externally rotated Specific tests to diagnose iliopsoas inflammation: Place hand proximal to the patient's ipsilateral knee and ask patient to lift thigh against your hand. This will cause pain due to contraction of the psoas muscle. Lie the patient on the normal side and hyperextend the affected hip. This should elicit pain as the psoas muscle is stretched. Investigation CT abdomen is the investigation of choice Management Antibiotics Percutaneous drainage is the initial approach and successful in around 90% of cases Surgery is indicated if: 1. Failure of percutaneous drainage 2. Presence of an another intra-abdominal pathology which requires surgery

Answer 9

Langerhans cell histiocytosis is a rare condition associated with the abnormal proliferation of histiocytes. It typically presents in childhood with bony lesions. Features - bone pain, typically in the skull or proximal femur - cutaneous nodules - recurrent otitis media/mastoiditis - tennis racket-shaped Birbeck granules on electromicroscopy This patient presented with the signs and symptoms of Langerhans cell histiocytosis. This is supported by the clinical manifestation of recurrent otitis media, skin rash and the lytic bone lesions. Langerhans cell histiocytosis is a multi-system disease and it is a proliferative condition of the dendritic cells in the skin. The disease involves the formation of multiple granulomas throughout the body. It commonly presents in childhood but can also be found in adults A classic electron microscopic finding of a biopsy which helps identify the condition is the presence of Birbeck granules which are tennis-racket shaped.

Answer 10

Pseudoxanthoma elasticum is an inherited condition (usually autosomal recessive*) characterised by an abnormality in elastic fibres. characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Features retinal angioid streaks 'plucked chicken skin' appearance - small yellow papules on the neck, antecubital fossa and axillae cardiac: mitral valve prolapse, increased risk of ischaemic heart disease gastrointestinal haemorrhage

Answer 11

- External rotation is classically impaired in adhesive capsulitis Adhesive capsulitis presents as a painful stiff shoulder with restriction of active and passive range of motion in abduction, internal and external rotation. However external rotation often shows the most marked restriction and is the first movement to show impairment. - Patients often report difficulty sleeping on the affected side. - Other indications that the answer is adhesive capsulitis, include coexisting diabetes, female gender and symptoms in the non-dominant hand, all of which are common findings in this condition Adhesive capsulitis (frozen shoulder) is a common cause of shoulder pain. It is most common in middle-aged females. The aetiology of frozen shoulder is not fully understood. Associations diabetes mellitus: up to 20% of diabetics may have an episode of frozen shoulder Features typically develop over days external rotation is affected more than internal rotation or abduction both active and passive movement are affected patients typically have a painful freezing phase, an adhesive phase and a recovery phase bilateral in up to 20% of patients the episode typically lasts between 6 months and 2 years The diagnosis is usually clinical although imaging may be required for atypical or persistent symptoms. Management no single intervention has been shown to improve outcome in the long-term treatment options include NSAIDs, physiotherapy, oral corticosteroids and intra-articular corticosteroids

Answer 12

- Usually gradual onset - Unilateral or bilateral leg pain (with or without back pain), numbness, and weakness which is worse on walking. Resolves when sits down. Pain may be described as 'aching', 'crawling'. - Relieved by sitting down, leaning forwards and crouching down - Clinical examination is often normal - Requires MRI to confirm diagnosis

Answer 13

Relapsing polychondritis is a rare autoimmune disorder characterised by recurrent episodes of inflammation and destruction of cartilaginous tissues resulting in widespread chondritis of the auricular, nasal, and tracheal cartilages as described in this case. Clinical features can include recurrent chondritis of the laryngotracheobronchitis tree and potentially end up with life-threatening laryngotracheal stenosis

Answer 14

- Approx 3x increased CV mortality and double all cause mortality with radiographic knee but not hand

Answer 15

- Age: strongest - Dysplasia of the hip - OA occurs younger - Obesity - Vitamin K analgoues - Lack of osteoporosis - higher bone mass - Occupation - Previous injury - Muscle weakness

Answer 16

- Normal joints are at increased risk of developing OA in the absence of adequate exercise - Normal joints are not at increased risk upon exposure to repetitive, low impact, recreational exercise - Abnormal joints are at increased risk upon exposure to repetitive, low impact recreation exercise - Normal joints are at increased risk upon exposure to repetitive, high impact exercise

Answer 17

``` Pain Loss of function Morning stiffness Swelling Deformity ```

Answer 18

LOSS - Loss of joint space - Osteophyte - Subchondral cysts - Subchondral sclerosis

Answer 19

NSAIDs - oral, topical Duloxetine - if fails nsaids Topical capsacin may be helpful Opioids - not recommended Glucosamine - not recommended Intraarticular steroids injections - increase joint damage, not that effective Short term steroids helpful for hand OA only - Doxycycline can be disease modifying in OA

Answer 20

- Polychondritis, also called relapsing polychondritis, is a rare disease in which cartilage in many areas of the body becomes inflamed - Clinical features include inflammation of the auricular, nasal, laryngotracheal, costal and articular cartilage and ocular inflammation - Can be associated with other CTD and myelodysplasia

Answer 21

- Rare chronic inflammatory disease of unknown aetiology that predominant affects the eye and inner ear - Interstitial keratitis (blood vessels grow into cornea) and recurrent Meniere like episodes of deafness - Mostly in young Caucasian adults - Can be associated with aortitis and vasculitis

Answer 22

Major Criteria - Enlarged aorta - Aortic dissection - Dislocation of the lens - Family history of the syndrome - At least 4 skeletal problems - flat feet, curve spine - Dural ectasia - enlargement of the lining that surrounds part of the spinal cord Minor Criteria - Short sightedness (myopia) - Unexplained stretch marks - Loose joints