Pneumocystis carinii pneumonia, is an opportunistic fungal lung infection occurring almost exclusively in immunocompromised individuals. In 50% of cases, PCP is the first manifestation of AIDS (acquired immune deficiency syndrome), but it may be caused by other immunodeficiency disorders. PCP should be suspected in patients with a history of progressive dyspnoea and a dry cough with resistance to standard antibiotic treatment. Signs that support this diagnosis include a CD4 count < 200/μL, an increased beta-D-glucan level, and diffuse bilateral infiltrates on chest x-ray. Management of PCP includes high-dose trimethoprim/sulfamethoxazole (TMP/SMX), treatment of the underlying immunodeficiency disorder, and steroids in the case of severe respiratory insufficiency. TB is less likely to be present in this case as ESR is relatively low and chest x-ray appeared normal.

People with Systemic Juvenile Idiopathic Arthritis (also known as Stills disease) can have recurrent fevers, a macular rash, joint pain, joint deformities, an enlarged liver and/or spleen, and can occasionally have polyserositis, lung involvement or pericardial effusions. Rheumatoid factor and antinuclear antibodies are usually negative. Treatment is with non-steroidal anti-inflammatory drugs (NSAIDs) and the prognosis is better than for adult rheumatoid arthritis.
In pauciarticular Still’s disease, antinuclear antibodies are present. Large joints are affected and most patients develop classic features of seronegative spondylarthritis.

Rheumatoid arthritis is an inflammatory systemic disease associated with some extraarticular manifestations. Keratoconjunctivitis sicca, episcleritis, scleritis, corneal changes, and retinal vasculitis are the most common ocular complications among extraarticular manifestations of RA. The overall prevalence of keratoconjunctivitis sicca also known as dry eye syndrome among patients of RA is 21.2% and is the most common with sense of grittiness in the eyes.

Anti-Sm antibodies are essential for diagnosis of SLE, especially in anti-dsDNA-negative patients. ANA are also found in 95% of the patients with SLE but they may also occur with other conditions like Juvenile inflammatory arthritis, chronic activity hepatitis, and Sjogren’s syndrome. Anti-Ro, although also found with SLE are more characteristic of Sjogren Syndrome. RF is usually associated with rheumatoid arthritis and cANCA with Wegener’s granulomatosis, Churg Strauss, and microscopic polyangiitis.

Osteoblastic (or sclerotic) bone metastases, characterized by deposition of new bone, present in prostate cancer, carcinoid, small cell lung cancer, Hodgkin lymphoma or medulloblastoma.

The patient most likely suffers from antiphospholipid syndrome. The clinical criteria consist of vascular thrombosis and pregnancy morbidity. Vascular thrombosis is defined as one or more clinical episodes of arterial, venous, or small-vessel thrombosis in any tissue or organ confirmed by findings from imaging studies, Doppler studies, or histopathology. ASD, VSDs would cause paradoxical emboli and stroke, however the recurrent pregnancy loss in this case is strongly suggestive of antiphospholipid syndrome. The ECG would be normal in most cases associated with anti phospholipid syndrome.

Old age, persistent backache, weight loss, and osteosclerotic lesions make prostatic adenocarcinoma the most likely diagnosis. The sequelae include severe pain, pathological fractures, hypercalcemia and cord compression. Prostatic adenocarcinoma is detected by elevated levels of prostate specific antigen. Positive serology for borrelia burgdorferi would hint at Lyme disease which does not cause osteosclerotic bone lesions, neither would Neisseria gonorrhoeae have such a presentation.

Pseudogout is a paroxysmal joint inflammation due to calcium pyrophosphate crystal deposition (calcium pyrophosphate dihydrate). Arthrocentesis should be performed, especially in acute cases.
Polarized light microscopy: detection of rhomboid-shaped, positively birefringent CPPD crystals.
Synovial fluid findings: 10,000-50,000 WBCs/μL with > 90% neutrophils.
X-ray findings: cartilage calcification of the affected joint (chondrocalcinosis).
Fibrocartilage (meniscus, annulus fibrosus of intervertebral disc) and hyaline cartilage (joint cartilage) may be affected.

DGI presents as two syndromes: 1) a bacteremic form that includes a triad of tenosynovitis, dermatitis, and polyarthralgias without purulent arthritis and 2) a septic arthritis form characterized as a purulent arthritis without associated skin lesions. Many patients will have overlapping features of both syndromes. Time from infection to clinical manifestations may range from 1 day to 3 months. There is no travel history and the rash of Lyme disease is not purulent. Reactive arthritis presents with conjunctivitis, urethritis and arthritis usually with a red hot tender and swollen joint.

Rheumatoid factor is an IgM antibody that targets the Fc portion of IgG.

Temporal arteritis is a chronic large- and medium-sized vessel vasculitis that typically involves the temporal arteries. Classical symptoms include temporal headaches, jaw claudication, amaurosis fugax. Physical exam shows scalp tenderness, palpation of the temporal area may demonstrate an absent pulse, knot-like swelling and vision loss. Lab results reveal an increased erythematous sedimentation rate and C-reactive protein. Temporal artery biopsy confirms the diagnosis. Management approach: high-dose systemic corticosteroids should be promptly administered even before the diagnosis is established. Temporal artery biopsy confirms the diagnosis. Inability to manage this or administer glucocorticoids might lead to development of blindness.

Primary gout is related more often to underexcretion of uric acid or overproduction.

Most patients with psoriatic arthritis present with monoarthritis or asymmetric oligoarthritis. The most common form of the disease is the one involving a few joints of the peripheral skeleton with a distinct asymmetry of symptoms. Involvement of the smaller joints of the hands and feet, especially distal interphalangeal joints, seems to be a characteristic feature. Arthritis mutilans is a rare and severe complication of psoriatic arthritis.

Behçet disease is a rare vasculitic disorder that is characterized by a triple-symptom complex of recurrent oral aphthous ulcers, genital ulcers, and uveitis. The systemic manifestations can be variable. Ocular disease has the greatest morbidity, followed by vascular disease generally from active vasculitis. Cutaneous manifestations can occur in up 75% of patients with Behcet disease and can range from acneiform lesions, to nodules and erythema nodosum. GI manifestations can be severe. Differentiating Behçet disease from active inflammatory bowel disease can be clinically difficult. Herpes would have ideally responded to acyclovir. Sarcoidosis does not have genital and oral ulcerations.

To confirm the diagnosis, especially in patients with negative anti-Ro or anti-La antibodies, labial gland biopsy is done. In performing a labial biopsy, the surgeon typically makes a shallow 1/2 inch wide incision on either side of the inner lip after numbing the area with a local anaesthetic. Schirmer’s test determines whether the eye produces enough tears to keep it moist. This test can be done for ocular symptoms of Sjogren syndrome but is of no diagnostic importance as it can be positive with many other diseases.

Felty syndrome is a severe subtype of seropositive Rheumatoid arthritis. Clinical triad consists of arthritis, splenomegaly, and neutropenia (leads to an increased risk of recurrent bacterial infections). Other symptoms include skin ulcers of the lower limbs (indicating vasculitis), hepatomegaly, fever, and chest pain (indicating pleuritis or pericarditis). It is associated with increased risk of developing non-Hodgkin lymphoma.

A high level of anti-dsDNA in the blood is strongly associated with lupus and is often significantly increased during or just prior to a flare-up. When the anti-dsDNA is positive and the person tested has other clinical signs and symptoms associated with lupus, it means that the person tested likely has lupus. This is especially true if an anti-Sm test is also positive.

In the evaluation of someone with lupus nephritis, a high level (titre) of anti-dsDNA is generally associated with ongoing inflammation and damage to the kidneys.

A very low level of anti-dsDNA is considered negative but does not exclude a diagnosis of lupus. Only about 65-85% of those with lupus will have anti-dsDNA.

Low to moderate levels of the autoantibody may be seen with other autoimmune disorders, such as Sjögren syndrome and mixed connective tissue disease (MCTD).

Drug induced lupus typically presents with pulmonary involvement and no renal or neurological involvement. Hence glomerulonephritis would be highly unlikely in this case. Rash and arthralgias are classic presentations. Pleurisy can be present as pulmonary involvement may occur with DILE.

Arthritis mutilans is a rare (occurs in only 5% of the patients) and extremely severe form psoriatic arthritis characterized by resorption of bones and the consequent collapse of soft tissue. When this affects the hands, it can cause a phenomenon sometimes referred to as ‘telescoping fingers.’ The associated nail changes are also characteristic of arthritis.

People with polyarteritis nodosa often exhibit anaemia of chronic disease. Leucocytosis and eosinophilia may also be present. ANCA is only rarely positive. As polyarteritis nodosa affects the kidneys as well, the creatinine is elevated in most cases.

Ankylosing spondylitis (spondylarthritis) is a chronic inflammatory disease of the axial skeleton that leads to partial or even complete fusion and rigidity of the spine. Males are disproportionately affected and upwards of 90% of patients are positive for the HLA-B27 genotype, which predisposes to the disease. The most characteristic early finding is pain and stiffness in the neck and lower back, caused by inflammation of the vertebral column and the sacroiliac joints. The pain typically improves with activity and is especially prominent at night. Other articular findings include tenderness to percussion and displacement of the sacroiliac joints (Mennell’s sign), as well as limited spine mobility, which can progress to restrictive pulmonary disease.
The most common extra-articular manifestation is acute, unilateral anterior uveitis. Diagnosis is primarily based on symptoms and x-ray of the sacroiliac joints, with HLA-B27 testing and MRI reserved for inconclusive cases. There is no curative treatment, but regular physiotherapy can slow progression of the disease. Additionally, NSAIDs and/or tumour necrosis factor-α inhibitors may improve symptoms. In severe cases, surgery may be considered to improve quality of life. The spine adopts a bamboo shape, not lordosis. The pain usually improves as the day progresses. leg raise test causes pain in cases of meningitis etc not in this case.

Inclusion body myositis (IBM) is a progressive muscle disorder characterized by muscle inflammation, weakness, and atrophy (wasting). It is a type of inflammatory myopathy. IBM develops in adulthood, usually after age 50. The symptoms and rate of progression vary from person to person. The most common symptoms include progressive weakness of the legs, arms, fingers, and wrists. Some people also have weakness of the facial muscles (especially muscles controlling eye closure), or difficulty swallowing (dysphagia). Muscle cramping and pain are uncommon, but have been reported in some people. The underlying cause of IBM is poorly understood and likely involves the interaction of genetic, immune-related, and environmental factors. Some people may have a genetic predisposition to developing IBM, but the condition itself typically is not inherited. Elevated creatine kinase (CK) levels in the blood (at most ,10 times normal) are typical in IBM. Muscle biopsy may display several common findings including; inflammatory cells invading muscle cells, vacuolar degeneration, inclusions or plaques of abnormal proteins.

NSAIDs are considered as the first line of treatment for managing pain and stiffness associated with ankylosing spondylitis. Other useful medications include TNF-alpha inhibitors. Other drugs like paracetamol, colchicine, and steroids are not routinely used. Bilateral total hip replacement might be indicated in advanced disease contrary to complicated spinal surgery.

A variety of proteins compose the structure of microfibrils, the most prominent of which are the two fibrillins. Fibrillin-1 a scaffolding protein is encoded by FBN1 on human chromosome 15q21 and fibrillin-2 is encoded by FBN2 on 5q23. Mutations in FBN1 produce Marfan syndrome, a pleiotropic autosomal dominant connective tissue disorder with prominent manifestations in the skeleton, eye and cardiovascular system. A number of conditions related to Marfan syndrome are also due to FBN1 mutations.

Anti–Mi-2 antibodies are highly specific for dermatomyositis, but sensitivity is low; only 25% of patients with dermatomyositis demonstrate these antibodies. A positive antinuclear antibody (ANA) finding is common in patients with dermatomyositis, but is not necessary for diagnosis. Anti-Jo-1 antibodies are mostly associated with polymyositis. Anti Scl-70 antibodies and anti centromere antibodies are most commonly found in systemic scleroderma.

Adult onset Still’s disease (AOSD) is an uncommon systemic inflammatory disease on the clinical spectrum of autoinflammatory disorders. Its presentation and clinical course may result in several well-differentiated phenotypes: from a systemic and highly symptomatic pattern to a chronic articular pattern. Overproduction of numerous pro-inflammatory cytokines is observed in AOSD. Anakinra, a human interleukin (IL)-1R antagonist, has recently been approved in the treatment of AOSD. Denosumab is a RANK ligand inhibitor used in the treatment of osteoporosis. Mepolizumab is used in the treatment of severe asthma with elevated eosinophils. There is some evidence to support the use of tocilizumab, an anti-IL6 monoclonal antibody in adult onset Still’s, but there is stronger data favouring the use of tocilizumab in the treatment of rheumatoid arthritis. Rituximab is usually reserved for patients who are unresponsive to anakinra.

An overall concordance rate in monozygotic twins was documented to be 25% as compared to dizygotic twins with 3%. First degree relatives have a chance of around 3% of developing the disease. Caucasians show an increase frequency of HLA-B8. The Japanese lupus patients had a stronger association with HLA-DR2.

The combination of APTT and low platelets with recurrent DVTs make antiphospholipid syndrome the most likely diagnosis.

Many drugs are responsible for causing drug induced lupus. However, it is most commonly associated with hydralazine, procainamide and quinidine.

The patient most likely has reactive arthritis which is usually diagnosed on history and clinical examination. The classic triad of symptoms include conjunctivitis, urethritis and arthritis. Arthritis and conjunctivitis may occur 4-6 weeks after a gastrointestinal or genitourinary infection. Arthritis usually occurs acutely, mostly involving the lower limb and is asymmetrical. Blood culture, urine culture and arthrocentesis (joint aspiration) will not yield positive results.