23-year-old female with a two-year history of neck pain and polyarthritis, dry mouth, hair loss, and skin rashes - 11/05/2022

Case Quiz Study

Case quiz study exposes you to a step-by-step analysis of the case discussed.
The MCQs poser is placed in critical junctures where the reader can exercise his thoughts in diagnosis by answering them.
It’s designed to help the reader to learn about the clinical features, investigations to be performed, any clinical interventions, and how to conclude the diagnosis
Take the quiz to enhance your ability to diagnose the case.

Note Correct answers and Discussion of the case from an expert are available after completing all the Questions.

1 / 9

The probable diagnosis to be considered with respect to her clinical features are following except

Sjogren’s syndrome, Rheumatoid arthritis, mixed connective tissue disease (MCTD)

Tuberculosis, Viral infections

Ankylosing spondylitis, Psoriatic arthritis

None of the above

Clinical and laboratory investigations

Liver function tests

2 / 9

The results of the tests which could suggest

Leukopenia, Anaemia- haematological involvement

Elevated GGT- liver dysfunction

Urine protein- renal involvement

Amorphous crystal in Urine-Gout

Parameters

3 / 9

The following the tests are recommended for further diagnosis

ANA, Rheumatoid factor, CRP, Complement C3 & C4

CRP, Complement C3 & C4

Bone marrow, CRP, Complement C3 & C4

ANA, Rheumatoid factor, and CRP

Further test

4 / 9

The following probability is increased in context of the preceding findings

Sjogren’s syndrome and paraneoplastic syndrome

SLE and rheumatoid arthritis

SLE and Sjogren’s syndrome

Rheumatoid arthritis and paraneoplastic syndrome

5 / 9

By applying criteria current patient can be grouped into what diagnosis

ACR/EULAR 2010 criteria- to RA

SLICC criteria- SLE

2016 ACR/EULAR criteria for Sjogren- Sjogren’s syndrome

To all of them

6 / 9

The following distinguishes the diagnosis of SLE from other CTDs except

Low C3

Positive ANA

Positive RF

Leukopenia

7 / 9

The final diagnosis of the case is

Sjogren’s disease

Non-renal Systemic lupus erythematosus (SLE)

Connective tissue disease

Rheumatoid arthritis

8 / 9

The following test helps to rule out Sjogren’s syndrome

CRP test

Rheumatoid factor

Complement test

Schirmer’s test

9 / 9

The following symptoms of the patient fulfills the following clinical SLICC criteria

Joint pain-synovitis, reddish rashes, hair loss, and leukopenia

Dry mouth, reddish rashes, breathlessness, hair loss, and leukopenia

Reddish rashes, dry mouth, hair loss, and leukopenia

Joint pain, tenderness in wrists and shoulders, and dry mouth

Discussion of the case

The young female had symmetric and non-deforming polyarthritis involving both small and large joints. She had dry eyes and mouth, and cough with grade 2 breathlessness. The patient had been diagnosed with tuberculosis and was on a four-drug regimen for one month. She was on steroid and anti-allergic medications for two months and she also had swollen and tender joints. These clinical presentations suggest a possible diagnosis of connective tissue disease, especially SLE, Sjogren's, or MCTD.

The possibility of rheumatoid arthritis, tuberculosis, and chronic viral infections including retroviral infection should be considered. The possibility of paraneoplastic syndrome is less likely since the patient was young. The clinical examination indicated leukopenia with normal neutrophil and lymphocyte proportion, positive RF, and ANA. The ANA profile suggested positive anti- Sm, anti-SSA, and anti-ds DNA. Her compliments levels were low, with a normal CRP and ESR rate. These reports indicated the possible diagnosis of SLE or Sjogren's syndrome overlap, especially, the low complement levels. Normal ESR suggests the disease to be predominantly of the SLE pattern, however, it couldn't explain some of the clinical features like symptomatic dry eyes and mouth experienced by the patient. In addition, the low counts also suggested a lupus profile.

The patient's chest findings and X-ray were not suggestive of any cardiac problems. Her urine evaluation did not suggest renal involvement. The clinical and immunological criteria of SLICC are listed in table 1. The proposed classification rule of SLICC criteria is as follows:

Classify a patient as having SLE if he or she satisfies 4 of the clinical and immunologic criteria used in the SLICC classification criteria, including at least one clinical criterion and one immunologic criterion, OR if he or she has biopsy-proven nephritis compatible with SLE in the presence of ANAs or anti-dsDNA antibodies¹.

Table 1. Clinical and immunologic criteria used in the SLICC classification system¹

Clinical criteria

1. Acute cutaneous lupus, including:

· Lupus malar rash (do not count if malar discoid)

· Bullous lupus

· Toxic epidermal necrolysis variant of SLE

· Maculopapular lupus rash

· Photosensitive lupus rash

· in the absence of dermatomyositis

OR subacute cutaneous lupus (nonindurated psoriasiform and/or annular polycyclic lesions that resolve without scarring, although

· Occasionally with post-inflammatory dyspigmentation or telangiectasias)

2. Chronic cutaneous lupus, including:

· Classic discoid rash

· Localized (above the neck)

· Generalized (above and below the neck)

· Hypertrophic (verrucous) lupus

· Lupus panniculitis (profundus)

· Mucosal lupus

· Lupus erythematosus tumidus

· Chilblainsns lupus

· Discoid lupus/lichen planus overlap

3. Oral ulcers

· Palate

· Buccal

· Tongue

· OR nasal ulcers

· in the absence of other causes, such as vasculitis, Behc¸et’s disease, infection (herpesvirus), inflammatory bowel disease, reactive arthritis,

· and acidic foods

4. Nonscarring alopecia (diffuse thinning or hair fragility with visibly broken hairs)

in the absence of other causes such as alopecia areata, drugs, iron deficiency, and androgenic alopecia

5. Synovitis involving 2 or more joints, characterized by swelling or effusion

Tenderness in 2 or more joints and at least 30 minutes of morning stiffness

6. Serositis

· Typical pleurisy for more than 1 day

OR pleural effusions

OR pleural rub

· Typical pericardial pain (pain with recumbency improved by sitting forward) for more than 1 day

OR pericardial effusion

OR pericardial rub

OR pericarditis by electrocardiography

· in the absence of other causes, such as infection, uremia, and Dressler’s pericarditis

7. Renal

Urine protein–to creatinine ratio (or 24-hour urine protein) representing 500 mg protein/24 hours

OR red blood cell casts

8. Neurologic

· Seizures

· Psychosis

· Mononeuritis multiplex

in the absence of other known causes such as primary vasculitis

· Myelitis

· Peripheral or cranial neuropathy

in the absence of other known causes such as primary vasculitis, infection, and diabetes mellitus

· Acute confusional state

in the absence of other causes, including toxic/metabolic, uremia, drugs

9. Hemolytic anemia

10. Leukopenia (_4,000/mm3 at least once)

in the absence of other known causes such as Felty’s syndrome, drugs, and portal hypertension

Lymphopenia (_1,000/mm3 at least once)

in the absence of other known causes such as corticosteroids, drugs, and infection

11. Thrombocytopenia (_100,000/mm3) at least once

in the absence of other known causes such as drugs, portal hypertension, and thrombotic thrombocytopenic purpura

Immunologic criteria

1. ANA level above the laboratory reference range

2. Anti-dsDNA antibody level above laboratory reference range (or 2-fold the reference range if tested by ELISA)

3. Anti-Sm: the presence of antibody to Sm nuclear antigen

4. Antiphospholipid antibody positivity as determined by any of the following:

Positive test result for lupus anticoagulant

False-positive test result for rapid plasma reagin

Medium- or high-titer anticardiolipin antibody level (IgA, IgG, or IgM)

Positive test result for anti–_2-glycoprotein I (IgA, IgG, or IgM)

5. Low complement

· Low C3

· Low C4

· Low CH50

6. Direct Coombs’ test in the absence of hemolytic anemia

Note -* Criteria are cumulative and need not be present concurrently. SLICC _ Systemic Lupus International Collaborating Clinics; SLE _ systemic lupus erythematosus;

ANA _ antinuclear antibody; anti-dsDNA _ anti-double-stranded DNA; ELISA _ enzyme-linked immunosorbent assay.

The clinical criteria of SLICC were fulfilled in the current case. The patient was evaluated for eye and salivary gland involvement. Pulmonary function test and if required, cardiac and pulmonary pressure should be evaluated to explain the problem of breathlessness. The organ involvement is one of the components that determine the extent of immunosuppression as well as the prognosis and outcome of the patients. Her chest evaluation showed normal results with a pulmonary function test and CT scan. Her ophthalmic evaluation suggested the Schirmer test to be 11 mm on either side, which suggests a reduced possibility of Sjogren's syndrome.

The involvement of musculoskeletal and hematological systems was noted, and skin rashes were also observed. The disease was significantly active with low C3 and C4 and threatened renal involvement. Based on the findings, the patient was considered to have moderate to severe SLE and was initially managed with a moderate dose of steroids along with azathioprine and hydroxychloroquine.

Final diagnosis

Non-renal SLE

Learning points

During the evaluation of SLE, the first step is to confirm the diagnosis, and step 2 is to work up for the extent of the disease and the organ damage.
The treatment should be based on the extent of the disease.

Reference

Petri M, Orbai AM, Alarcón GS, Gordon C, Merrill JT, Fortin PR, et al. Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum. 2012; 64(8): 2677–2686.

Your score is

A 23-year-old female presented with a two-year history of neck pain and polyarthritis. She complains of dry mouth, hair loss, and skin rashes for 1 month. She had a history of tuberculosis treated with anti-tuberculotic drugs. What could the definitive diagnosis be?

23-year-old female with a two-year history of neck pain and polyarthritis, dry mouth, hair loss, and skin rashes – 11/05/2022

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