Antiphospholipid Antibody Syndrome & Scleroderma - Free MCQ Practice Test

Pregnancy complications associated with anti-phospholipid antibody syndrome can be averted through a regimen that includes a combination of heparin and 80 mg of aspirin daily. Additionally:

• Intravenous immunoglobulin (IVIg) administered at 400 mg/kg once daily for five days may also help prevent miscarriages.
• Glucocorticoids, however, are not effective in this context.

Following the initial thrombotic incident, patients with APS should begin lifelong treatment with warfarin, with the goal of maintaining an international normalised ratio (INR) between 2.5 and 3.5. This treatment may be used alone or in conjunction with 80 mg of aspirin daily.

• Venous Thrombo-Embolism
• Warfarin-induced skin necrosis (WISN)

• Peripheral venous system (deep venous thrombosis)
• Central nervous system (cerebrovascular accident, sinus thrombosis)
• Hematologic (thrombocytopenia, hemolytic anaemia)
• Obstetric (pregnancy loss, eclampsia)
• Pulmonary (pulmonary embolism, pulmonary hypertension)
• Dermatologic (livedo reticularis, purpura, infarcts/ulceration)
• Cardiac (Libman-Sacks valvulopathy, myocardial infarction)
• Ocular (amaurosis, retinal thrombosis)
• Adrenal (infarction/haemorrhage)
• Musculoskeletal (avascular necrosis of bone)

Anti-phospholipid Syndrome is an acquired thrombophilia mediated by autoantibodies. It is linked to:

• Occurrence of arterial or venous thrombosis
• Recurrent miscarriage

This occurs alongside laboratory findings indicating persistent antiphospholipid antibodies. A clotting time that exceeds 30 seconds and does not correct despite a mixing study suggests the presence of a lupus anticoagulant. If the initial dRVVT assay yields an abnormal result, it should be followed by a confirmatory dRVVT test. In this test, the inhibitory effect of lupus anticoagulants on phospholipids in the dRVVT can be neutralised by adding an excess of phospholipid to the assay.
The clotting times from both the initial dRVVT assay and the confirmatory test are normalised and used to calculate a ratio of time without phospholipid excess to time with phospholipid excess. Generally, a ratio exceeding 1.2 is deemed a positive result, indicating that the patient may possess antiphospholipid antibodies.
The dRVVT test is more sensitive than the aPTT test for detecting lupus anticoagulant, as it is not affected by deficiencies or inhibitors of clotting factors VIII, IX, or XI. A clot solubility test is performed to assess factor XIII deficiency. Fibrin clots formed in the presence of factor XIII and thrombin remain stable (due to crosslinking) for at least 1 hour in 5 mol/l urea, while clots formed without factor XIII dissolve quickly.

Antiphospholipid Antibody Syndrome (APLAb) is a condition that can lead to various health issues. Here are some key points to understand:

• Single titre of Anticardiolipin is not sufficient for a diagnosis. A higher titre or repeated tests are usually required.
• The syndrome is often linked with recurrent fetal loss, meaning many women experience multiple miscarriages.
• It may lead to complications like pulmonary hypertension, which is high blood pressure in the lungs.
• For treatment, Warfarin is commonly prescribed to prevent blood clots.

For a woman with Antiphospholipid Antibodies and a history of abortions or stillbirths, the recommended treatment is:

• Aspirin to help prevent blood clots
• Low molecular weight Heparin to further reduce clotting risks

This combination is effective in improving pregnancy outcomes in women with this condition. Other treatments, like Prednisolone, are not routinely recommended in this specific context.

Scleroderma crisis arises in 12% of instances involving systemic sclerosis. It is defined by:

• rapid hypertension
• a swift decrease in kidney function

Histopathological analysis reveals narrowing of the arcuate artery intima and proliferation of the media, which is typically referred to as onion skinning. The presence of anti-U3-RNP may help identify younger patients who are at risk for a scleroderma crisis. Conversely, anti-centromere acts as a negative predictor for this condition. The highest mortality rates in scleroderma are attributed to pulmonary artery hypertension and pulmonary fibrosis.

Anti-centromere antibodies are observed in CREST Syndrome.

Scleroderma is a widespread connective tissue disorder defined by inflammatory, vascular, and fibrotic alterations in the skin and various internal organs.

• Pulmonary complications are estimated to affect between 70% and 85% of individuals with scleroderma.
• Lung involvement typically manifests as diffuse and bilateral basilar reticulonodular infiltrates, with pulmonary nodules being uncommon.
• Chest radiography is a less effective imaging technique that only reveals late signs of pulmonary fibrosis, such as heightened interstitial markings.
• Radiography of the extremities should be conducted to identify calcinosis and the resorption of the distal tufts of the fingers.
• Esophageal dysmotility can be assessed through esophageal manometry.
• Bone alterations associated with scleroderma include acro-osteolysis, peri-articular osteoporosis, joint space narrowing, and erosions.

Anti-topoisomerase I is primarily associated with systemic sclerosis, a condition that causes hardening and tightening of the skin and connective tissues. This antibody is often used as a marker in diagnosing this disease.

• Systemic sclerosis involves serious complications, including damage to internal organs.
• It is important to distinguish this condition from other diseases such as classic polyarteritis nodosa, nephrotic syndrome, and rheumatoid arthritis, which do not typically show this marker.

ANA is the preferred screening technique for systemic rheumatic disorders, including:

• systemic lupus erythematosus (SLE)
• mixed connective tissue disease
• Sjogren syndrome
• scleroderma
• CREST syndrome
• rheumatoid arthritis
• polymyositis
• dermatomyositis

Between 40% and 50% of individuals with scleroderma report experiencing symptoms related to the esophagus, such as heartburn and dysphagia. Furthermore, as many as 90% of these patients exhibit esophageal dysfunction when assessed through objective testing at some stage during their illness.

• The condition leads to dysfunction of smooth muscles, which results in esophageal aperistalsis and decreased pressures in the lower esophageal sphincter.
• Gastroesophageal reflux occurs due to ineffective acid clearance, leading to a higher risk of complications like peptic stricture and Barrett's oesophagus.
• Scleroderma is frequently linked to intestinal pseudo-obstruction, alongside other connective tissue disorders, hypothyroidism, Chagas' disease, diabetes, Parkinson's disease, and the use of narcotics.

The absence of contractile activity at regular intervals is caused by atrophy and fibrosis of the muscularis layer in the small intestine. Plain abdominal radiographs typically display dilated loops of the small bowel with air-fluid levels; however, this does not rule out mechanical obstruction as a potential cause.

A more distinctive feature of scleroderma-related intestinal pseudo-obstruction is the 'hide-bound' or 'accordion-like' appearance, which is created by closely packed valvulae due to excessive collagen deposition. This unique mucosal fold pattern is specifically observed in scleroderma.

Pneumatosis cystoides intestinalis (PCI) is a rare yet serious gastrointestinal complication associated with connective tissue diseases (CTD). PCI is marked by the presence of clusters of gas within the walls of the small and large bowel, identifiable through X-ray or computed tomography, and is often accompanied by free air in the peritoneal cavity.

Systemic sclerosis is defined by the fibrosis of the lower oesophageal sphincter, which results in a reduction of the tone of the LES. This decrease in tone subsequently causes gastroesophageal reflux disease (GERD), leading to frequent aspiration pneumonia.

• Renal crisis occurs in roughly 10% of all individuals with systemic sclerosis and signifies a poor prognosis.
• It manifests as accelerated hypertension, oliguria, headaches, dyspnoea, oedema, and a rapid increase in serum creatinine levels.
• Approximately 75% of patients will experience renal crisis within 4 years of diagnosis, though it can arise as late as 20 years post-diagnosis.
• Renal crises are somewhat more prevalent in black individuals compared to whites, and men are at a higher risk than women.

• The progressive fibrosis may affect the heart, leading to restrictive cardiomyopathy and the emergence of the Kussmaul sign.
• Fibrosis in the minor salivary glands diminishes saliva production.

In scleroderma, malignant hypertension may occur, which can result in haemorrhagic strokes, although ischemic strokes are not typical. For other options, the classification criteria for systemic sclerosis will be beneficial.

• Autoantibodies to centromere proteins
• Scl-70 (topo I) and fibrillin
• Basilar pulmonary fibrosis
• Contractures of the digital joints or the prayer sign
• Dermal thickening proximal to the wrists
• Calcinosis cutis
• Raynaud phenomenon (at least a two-phase colour change)
• Distal hypomotility of the oesophagus or reflux oesophagitis
• Sclerodactyly or non-pitting digital oedema
• Telangiectasias, remembered by the abbreviation ABCDCREST.

Meeting three or more of these criteria indicates definitive systemic scleroderma, with a sensitivity and specificity as high as 99% and 100%, respectively.