Quiz 2

(Ref: Harrison 20th edition, p 2518; Harrison 19t, e p 2126-27)
The diagnosis is based on joint pain in fever with rash and photosensitivity. Rheumatoid arthritis involves the small and joints symmetrically and does not have presence of Rash
The diagnostic criteria for SLE are as follows:
• Rash Fixed erythema, over the Malar Eminences
• Erythematous circular raised patches with adherent keratotic scaling and follicular plugging; atrophic scarring may occur
• Photosensitivity Exposure to UV light causes rash
• Oral ulcers Includes oral and nasopharyngeal ulcers
• Synovitis/Non-erosive arthritis of two or more peripheral joints
• Serositis: Pleuritis or pericarditis documented by ECG or rub or evidence of effusion
• Renal disorder Proteinuria > 0.5 g/d or 3+, or cellular casts
• Neurologic disorder Seizures or psychosis without other causes
• Hematologic disorder Hemolytic anemia or leukopenia
• Immunological criteria like positive CRP, low C3, ELISA cardiolipin antibody
• ANA positivity

(Ref: Harrison 20th edition, p 2517)
 Anti ds-DNA antibody is associated with increased risk of nephritis in cases of SLE.
 Anti centromere ab is associated with limited scleroderma.
 Antibodies to Ribosomal-Pantigen is associated with CNS lupus.
 Antibodies to tRNA synthetase are associated with, polymyositis with interstitial lung disease.

(Ref: Harrison 20th edition, p 2531; Harrison 19th edition, p 2128)
 The pericardial friction rub of pericarditis resolves with steroids.
 Lupus cerebritis and lupus nephritis responds to steroids.
 No specific therapy is indicated for Libman-endocarditis. Valve surger Sacks y may be required for hemo-dynamically significant valvular dysfunction. Mechanical prostheses are usually implanted Manage heart failure due to valvular dysfunction according to usual guidelines. Medications may include vasodilators, beta blockers, diuretics, and digoxin

(Ref: Harrison's 19th edition, p 2791)
 Anti-phospholipid Syndrome-is an autoantibody mediated acquired thrombophilia.
 It is associated with Occurrence of arterial or venous thrombosis or recurrent miscarriage in association with laboratory evidence of persistent antiphospholipid antibody.
 A prolonged clotting time of 30 seconds or greater that does not correct despite the mixing study suggests the presence of a lupus anticoagulant.
 An abnormal result for the initial dRVVT assay should be followed by a dRVVT confirmatory test. In this test, the inhibitory effect of lupus anticoagulants on phospholipid in the dRVVT can be overcome by adding an excess of phospholipid to the assay. The clotting times of both the initial dRVVT assay and confirmatory test are normalized and then used to determine a ratio of time without phospholipid excess to time with phospholipid excess.
 In general, a ratio of greater than 1.2 is considered a positive result and implies that the patient may have antiphospholipid antibodies. The dRVVT test is more sensitive than the aPTT test for the detection of lupus anticoagulant, because it is not influenced by deficiencies or inhibitors of cloning factors VIII, IX or XI.
 Clot solubility test is done for factor 13 deficiency. Fibrin clots formed in the presence of factor XIII and thrombin are stable (as a result of crosslinking) for at least 1 h in 5 mol/l urea, whereas clots formed in the absence of factor XIII dissolve rapidly.

(Ref: CMDT 2014 ch.20, p 838)
$ At least 40-50% of patients with scleroderma experience esophageal symptoms such as heartburn and dysphagia, while up to 90% of patients have esophageal dysfunction on objective testing at some point in their disease. The disease results in smooth muscle dysfunction that causes esophageal aperistalsis and reduced lower esophageal sphincter pressures. Gastroesophageal reflux with
poor acid clearance results with an increased incidence of complications such as peptic stricture and Barrett's esophagus.
$ Scleroderma is a common cause of intestinal pseudo-obstruction, although the association with other connective tissue disorders, hypothyroidism, Chagas’ disease, diabetes, Parkinson’s disease and the use of narcotics. The lack of contractile activity at regular intervals results from atrophy and fibrosis of the muscularis layer of the small bowel. Plain radiographs of the abdomen show dilated loops of the small bowel with air fluid levels although this cannot exclude mechanical obstruction as a cause. A more characteristic sign of scleroderma intestinal pseudo-obstruction is a ‘hide-bound’ or ‘accordion-like’ appearance produced by closely packed valvulae resulting from excessive collagen deposition. This characteristic mucosal fold pattern is uniquely seen in scleroderma.
$ Pneumatosis cystoides intestinalis (PCI) is a rare life-threatening gastrointestinal complication In the course of connective tissue disease (CTD). PCI is characterised by the appearance of intramural clusters of gas in the small and large bowel wall on X-ray or computed tomography and often is accompanied by free air in the peritoneal cavity.

(Ref: Harrison 20th edition, p 2582-2583; Harrison 19th edition, p 2187)
 Since all peripheral pulses are palpable, hence Takayasu’s arteritis is ruled out. The presence of gangrene in digits points to small blood vessel involvement.
 The presence of Hypertension further points to a vasculitis which is a feature of polyarteritis nodosa. Wegeners and SLE are ruled out as ANCA and dsDNA is negative.
 PAN can affect digital vessels leading to gangrene while the vasculitis component explains hypertension.

(Ref: Harrison 20th edition, p 2582-2583)
The diagnosis here is made on basis of presence of > 3 out of 10 ACR criteria for diagnosis of PAN
1. Hypertension (BP = 160/140 mm Hg)
2. Kidney involvement without glomerulonephritis (RBC 10- 15/HPF, but no casts seen)
3. Muscle weakness or myalagia
The presence of digital gangrene further cements the diagnosis since small vessel involvement is there but the peripheral pulses are palpable.
Diagnostic criteria for PAN are mentioned below - (3 out of 10 should be present)
1. Weight loss of 4 kg or more
2. Testicular pain/tenderness
3. Myalgia or muscle weakness/tenderness
4. Mononeuropathy or polyneuropathy
5. Diastolic blood pressure greater than 90 mm/Hg
6. Livedo reticularis
7. Elevated blood urea nitrogen (BUN) or creatinine level unrelated to dehydration or obstruction Kidney involvement is due to vasculitis and not due to glomeru- lonephritis. Hence hematuria is seen but without RBC casts.
8. Presence of hepatitis B surface antigen or antibody in serum
9. Arteriogram demonstrating aneurysms or occlusions of the visceral arteries
10. Biopsy of small- or medium-sized artery containing polymorphonuclear neutrophils

(Ref: Harrison 20th edition, p 2960-2961; Harrison 19th edition, p 426e-2)
 Nonspecific headaches, impaired hearing, and tinnitus commonly result from skull involvement. The patient’s hat size may increase (or, less commonly, decrease) as a result of skull enlargement or deformity.
 The most common cranial symptom is hearing loss, occurring in 30-50% of patients with skull involvement.
 The most common neurologic complication is deafness as a result of involvement of the petrous temporal bone.
 Hip pain is most common when the acetabulum and proximal femur are involved, especially in the sclerotic stage. Bowing of the femur and long bones or protrusion of the acetabulum causes pain that becomes worse with weightbearing and is relieved with rest. Knee and shoulder pain may occur because of altered mechanical forces across the articular joints from deformed bones.
 Other patients with Paget disease present with a range of manifestations related to complications. These include musculoskeletal, neurologic, and cardiovascular problems.
 Because of increased osteoblastic activity and bone formation, bone-specific alkaline phosphatase (BSAP) levels are elevated