Coughing and dyspnea are getting worse, and finally diagnosed as a rare syndrome?

*It is only for medical professionals to read for reference.
When encountering unexplained coughing and breathing difficulties, it is always right to have multiple minds! Summary of the situation: During the new coronary pneumonia pandemic, encountering unexplained coughing and dyspnea, CT reveals infiltrating lesions in both lungs, which will inevitably make the receiving physicians frightened
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Although the patient has repeatedly tested negative for new crown nucleic acid, which makes his tight nerves slightly relaxed, the "true culprit" is still at large.
The patient's cough and dyspnea are progressively worsened.
After admission, CT, bronchoscopy and other series of examinations did not occur.
After discovering clear clues, after the immune test report, let's discover the truth together~Case introduction The patient is a 51-year-old white female who complained of "persistent dry cough and progressive dyspnea for 6 weeks" and was admitted to the emergency department
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According to the patient's memory: Before this admission, he had been in the emergency department and tested negative for new coronary pneumonia
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Emergency physicians gave oral antibiotics for 10 days based on experience, but there was no significant improvement
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Later, the patient went to the outpatient department of the respiratory department and told the doctor that he would have difficulty breathing when he walked.
The chest X-ray showed infiltrates of the lungs, and he was diagnosed with pneumonia
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The doctor gave oral doxycycline 100mg (treatment course for 14 days) and oral prednisone 40mg (treatment course for 5 days), and recommended regular follow-ups
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However, the patient tried to stop prednisone, but found that the dyspnea symptoms became more severe after stopping the drug
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When walking, pulse oximeter showed 80%, lung function test showed restrictive ventilatory disorder, forced expiratory volume per second (FEV-1) decreased by 52%, and forced vital capacity (FVC) decreased by 47%
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The patient said "always feel fatigued all over the body" and there are no other symptoms
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The patient also informed that both his father and daughter had "Crohn's disease"
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Personal history is nothing special
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In the emergency room, the patient has a body temperature of 36.
4°C, a breathing rate of 26 breaths per minute, a blood oxygen saturation of 88-90% under breathing room air, and a blood pressure of 102/53mmHg
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Physical examination revealed that the patient had obvious dyspnea, shortness of breath, and reduced breathing sounds in both lower lungs
.

Skin, heart, abdomen, nervous system and musculoskeletal examinations showed no obvious abnormalities
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Repeat the new coronavirus nucleic acid test is negative
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Therefore, the patient undergoes further examination and evaluation
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The blood test showed normal cellular anemia, and the kidney and liver examinations were within the normal range
.

Erythrocyte Sedimentation Rate (ESR) is 49mm/h (reference range 0~15mm/h), C-reactive protein (CRP) is 3.
24mg/dl (reference range 0~0.
74mg/dl)
.

Urinalysis and complement levels did not change significantly
.

Creatine kinase (CK) 326 IU/L (reference range 22~232 IU/L) and aldolase 39.
5U/L (reference range 1.
5~8.
1U/L)
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The chest X-ray (Figure 1) showed that there were infiltrating shadows at the base of both lungs, which did not change much from the previous images
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Chest CT and angiography (Figure 2) showed that the lungs on both sides showed ground-glass shadows, mediastinal lymph nodes were enlarged, no filling defects were seen, and no signs of pulmonary embolism were seen
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The echocardiogram showed no abnormalities
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Figure 1 Chest X-ray Figure 2 After chest CT and vascular imaging, the patient underwent bronchoscopy.
A transbronchial biopsy of the right lower lobe showed mild lung parenchymal inflammation and fibrosis without signs of malignant tumors
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GMS staining and Ziehl-Neelsen staining were negative for Pneumocystis and Mycobacterium, respectively
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The bronchoalveolar lavage of the right lower lobe was negative for bacteria and fungi
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Based on the above information, what do you think is the direction for further investigation of this case? What do you think the patient needs to continue to improve? Subsequently, the patient improved the immunological indicators: anti-ANA antibody, anti-Jo-1 antibody positive
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Rheumatoid factor, anti-cyclic citrullinated peptide antibody, anti-Ro/SSA antibody, anti-Scl-70 antibody, anti-Smith antibody and anti-neutrophil cytoplasmic antibody were all negative
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I believe that the answer in everyone’s mind is already ready to come out~ The correct answer is anti-synthetic antibody syndrome
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Immunological test showed positive anti-Jo-1 antibody, and the diagnosis of "anti-synthetic enzyme syndrome (ASS)" was confirmed.
The patient's lung lesions were considered to be ASS-related interstitial lung disease (ILD)
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▎Follow-up treatment and follow-up: The patient started to receive methylprednisolone 40 mg intravenously every 12 hours.
The symptoms did not improve, so she started to receive methylprednisolone 1000 mg/day for 3 consecutive days
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After the patient was treated with hormone shock therapy, the respiratory symptoms were alleviated compared with before.
When discharged from the hospital, he received oral prednisone 60mg/day and received home oxygen therapy
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Two weeks after discharge, the patient was followed up in the rheumatology clinic and started taking mycophenolate ester 500 mg twice a day
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Follow-up 3 months later, the patient's symptoms gradually improved and oxygen therapy was stopped
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The performance of chest CT imaging improved, and laboratory tests such as ESR, CRP, creatine kinase, and aldolase all improved
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Within 6 months, the prednisone dose was gradually reduced to 10 mg/day
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Case Summary At the beginning of the new coronary pneumonia pandemic, the patient showed worsening breathing difficulties and coughing
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Clinicians need to consider the problem more comprehensively.
This case can be diagnosed early and treated in time, and the prognosis has been significantly improved
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Combining this case, let's learn about ASS together~ ASS is a rare autoimmune disease, the main features are ILD, myositis and arthritis, and rare manifestations include fever, Raynaud's phenomenon and skin lesions
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15%~30% of ASS patients may initially present with ILD
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The main serological hallmark of this syndrome is the presence of various autoantibodies against aminoacyl tRNA synthetase, including anti-Jo-1 antibodies
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Marguerie et al.
first proposed the concept of ASS in 1990
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There is still no uniform internationally recognized ASS classification standard
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The commonly used diagnostic criteria include: positive serum anti-synthetic enzyme antibodies, and at least one of the following clinical manifestations: Raynaud’s phenomenon, arthritis, ILD, fever (no other causes of fever were found), mechanic hands (thickening of the skin of the hands, Chapped, especially the skin of the fingertips)
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The pathogenesis of ILD is still unclear, and it is generally considered to occur in a genetically susceptible population under the background of environmental factors and immune system activation
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The diagnosis of ASS is challenging, especially if it is not accompanied by other characteristics, and ILD is the main manifestation, it is difficult to distinguish from infections and other diseases, and high suspicion is required
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Early recognition and monitoring of new disease manifestations, timely application of glucocorticoids and other immunosuppressive treatments, can obtain a better prognosis
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ILD is the main manifestation of the lungs in patients with ASS.
It is usually associated with or without dry cough and is the main cause of death
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Bronchoscopy and lung biopsy are not routinely used for the diagnosis of ASS, but infection or other causes can be ruled out
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At present, there is still a lack of guidelines on the standard treatment plan for ASS-related ILD
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The clinical symptoms of this case improved after glucocorticoid shock and immunosuppressive mycophenolate treatment
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Glucocorticoids are the most common initial treatment
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In addition, studies have reported that mycophenolate mofetil or azathioprine can be used together with glucocorticoids to improve survival and reduce recurrence rates compared with prednisone monotherapy
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There are also case reports of the use of cyclophosphamide, cyclosporine, methotrexate, and intravenous immunoglobulin as immunomodulators.
Rituximab has been used in patients with refractory ILD
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The severity of ILD is still the main prognostic factor of ASS
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ASS is a rare clinical syndrome with different symptoms and "combinations
.
"
This case emphasizes the need to consider the possibility of ASS-related ILD after encountering pneumonia of unknown cause and excluding infections and other diseases
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Early diagnosis and timely treatment will significantly improve the prognosis of ASS patients
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In addition, more randomized controlled trials and larger sample size studies are still needed in the future to further standardize the diagnosis and treatment of ASS
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Reference materials: [1]Alfraji N,Mazahir U,Chaudhri M,et al.
Anti-synthetase syndrome: a rare and challenging diagnosis for bilateral ground-glass opacities—a case report with literature review[J].
BMC Pulmonary Medicine,2021 ,21(1).
[2]Li Wen, Li Jun, Xie Wanmu, et al.
Clinical characteristics of patients with anti-synthetase syndrome combined with interstitial lung disease[J].
Chinese Medical Journal 2020, Volume 100, Issue 24,1861-1865 Page, MEDLINE ISTIC PKU CSCD CA, 2020.