, Systemic connective tissue diseases - SLE, dermatomyositis, scleroderma. Flashcards
What is the etiology of SLE ?
Hladr2 hladr3
UV light and EBV infection may trigger disease flares,
More in women 15-44
Clinical features of SLE
, fever, weight loss
Joints
Arthritis and arthralgia
Distal symmetrical polyarthritis
Skin
Malar rash
Raynaud phenomenon
Photosensitivity → maculopapular rash
Discoid rash
Oral ulcers (usually painless)
Nonscarring alopecia
———
Hematological:
petechiae
recurrent infections due to cytopenias
Musculoskeletal: myalgia
Serositis: pleuritis and pericarditis
Lupus nephritis
Heart
Pancreatitis- Pericarditis, myocarditis, endocarditis (Libman-Sacks endocarditis)
Lungs
Pneumonitis
Interstitial lung disease
Vascular
Vasculitis
Thromboembolism (see “Antiphospholipid syndrome”)
Neurological Seizures Psychosis Lupus cerebritis Aseptic meningitis
Eyes: keratoconjunctivitis sicca
SLE diagnostics
Ana 1:80
Clinical
Anti phospholipid antibodies - anticardiolipin antibodies m
Lips anticoagulant
Anti b2 GPI
Complaints low c3 and c4
Sle specific
Anti dis dna antibodies
Anti sm antibodies
Treatment of SLE
Avoid UV
If cutaneous - topical steroids and topical calcination inhibitors nsaids
Hydroxychloroquine
With methotrexate azathioprin
Low dose short term oral glucocorticoids
Then medium dose
With immunosuppressive agents like mycophenolate , cyclophosphomide
What is dermatomyositis?
inflammatory myopathy characterized by progressive symmetrical proximal muscle weakness and distinctive skin findings
Etiology of eermatomyositis?
Idiiopathic
disorder appears to have seasonal clustering, it is believed that some infectious organism
Parvovirus B19
Coxsackievirus
HLA-DR3.
Paraneoplastic antibody mediated vascular
Associated with malignancies such as non Hodgkin lymphoma
Clinical features of dermatomyoitis
juvenile form is associated with multisystemic vasculitis and a high frequency of calcinosis,
Cutaneous
Symmetric erythematous rash The erythema is often described as violaceous (blue-purple)
On :
1) Extensor surfaces of the hand joints, elbows, and knees (Gottron sign); scaly papules may form (Gottron papules)
2) Upper eyelids (heliotrope rash); often associated with periorbital edema
3) Mid-face - May mimic malar rash but, in contrast to SLE, it affects the nasolabial folds
4) Upper back, posterior neck, and shoulders (shawl sign)
5) Upper chest and anterior neck (V sign
,
Mechanic’s hands: thickened and cracked skin on the sides of the fingers and palms (horizontal fissures may appear darkened or dirty, hence the name)
Calcinosis cutis In children
- —-
symmetrical proximal muscle weakness,
pelvic and shoulder girdle muscles,
Axial muscle weakness
Oropharyngeal muscle weakness leading to dysphagia
Respiratory muscle weakness leading to restrictive lung disease
——-
Systemic
Interstitial lung
Myocarditis - Av block
.However, unlike the adult form, it does not have an increased risk of malignancy
Pain
Fever
What is the diagnosis of dermatomyositis?
DM: characteristic skin findings and ≥ 3 additional features
Symmetric proximal muscle weakness
Elevated muscle enzymes
Electromyogram (EMG) suggestive of inflammatory myopathy
Evidence of myositis on muscle biopsy ( golden standard) predominantly cd4 T cells and b lymphocytes in the the perimysium (the connective tissue surrounding the fascicle)
——————-
Leukocytosis
Esr and crp
——— Muscle enzyme Ck AST and alt high because of muscle break down LDH high Aldolase high Myoglobin high
——— Antibodies Anti-mi-2 antibodies or helicase Anti- NXP-2 Anti TIF-1 Anti- SAE Anti- MDA-5 an
When is the onset of dermatomyositis?
5-10
Treatment of dermatomyositis
: Start supportive therapies (physical, occupational, and/or speech therapy, as appropriate) as soon as possible.
.
Advise patients with cutaneous manifestations to use photoprotective measures.
Pharmacologic therapy Initial treatment First-line: glucocorticoids Prednisone In severe disease or with multisystem involvement, consider short course of pulsed IV methylprednisolone. AND (immunosuppressive agent, e.g.: Methotrexate Azathioprine
Severe or refractory disease
Intravenous immunoglobulins
AND/OR rituximab
Dysphagia: intravenous immunoglobulins
Rapidly progressive parenchyma lung disease: Consider plasmapheresis.
What is the clinical manifestations of scleroderma
Common
Thickening and hardening of the skin: Skin appears smooth, shiny, and puffy.
Sclerodactyly: fibrotic thickening and tightening of the skin of the fingers and hands
- Initially edema, followed by fibrosis with waxy appearance of the skin
- Red-blue discoloration of the fingers
- Limited range of motion and possibly flexure contractures and clawing of the digits
Multiple, painful ischemic digital ulcers with atrophy and necrotic spots
Face
Loss of expression (mask-like facies)
No wrinkles
Microstomia - characteristic perioral wrinkles
Vascular
Vascular disease
Raynaud phenomenon
Thromboembolism
Other
Joint stiffness
What is the clinical manifestations in subclassification called limited cutaneous systemic sclerosis
Skin manifestations usually restricted to hands and fingers and face
Disease progression is slower
Raynaud phenomena always preceded
CREST Calvinists Curtis Raymond phenomena Esophageal hypomotility- GERD Sclerodactyly Telangiectasia
Clinical manifestations in the subclassificationw diffuse cutaneous systemic sclerosis
Disease progression rapid
Skin manifestations are widespread and typically spread from the trunk to the elbow.
Raynaud phenomenon
Extracutaneous organ manifestations are common:
1 Arthralgia and myalgia: can result in contractures
2) Gastrointestinal tract
Esophageal dysmotility → dysphagia and reflux
Small bowel dysmotility → bloating, gas, constipation,
3) pulmonary hypertension and interstitial lung disease
4) Cardiac disease: fibrosis, myocarditis, pericarditis
5) Renal disease Abnormal collagen deposition → thickening of renal arteriolar walls → decreased renal blood flow → reduced kidney function Scleroderma renal crisis.: Oliguric renal failure (Malignant) hypertension Encephalopathy Microangiopathic hemolytic anemia Treatment: ACE inhibitors
Diagnosis of scleroderma
Ana
Limited : anticentromere antibodies
Diffuse- anti - scl- 70
Anti rna polymerase 3
Serum protein electrophoresis - increase gamma globulin
What is the treatment of scleroderma?
General measures
Physical therapy, massage
Prevent dry skin
Warm oil and paraffin baths
Avoid soap
Phototherapy
————
Immunosuppressive therapy: e.g., methotrexate
Organ-specific therapy
PPIs in cases of gastroesophageal reflux disease
CCBs for Raynaud phenomenon
D-penicillamine for skin and visceral complications
