Rheumatism makes you diagnose, will you?

*It is only for medical professionals to read for reference.
It is said that wind avoidance is difficult.
How difficult is it? Guarantee is very difficult! From January 23 to 24, 202, the medical media, based on the original intention of "spreading the strongest rheumatism and creating a new academic fashion", joined hands with 4 top domestic rheumatism and immunology departments and invited 20 well-known experts in the field of rheumatism, covering 8 hot spots in the field of rheumatism.
Research on diseases and start "Bringing the Wind and Breaking the Waves-2020 Rheumatism Annual Inventory"! It is said that the diagnosis of rheumatism is the most difficult, how difficult is it? In the four venues, Peking University People’s Hospital, Peking University First Hospital, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine, and the Department of Rheumatology and Immunology at the Second Xiangya Hospital of Central South University all discussed the theme of "Inventory and Analysis of Difficult Rheumatism Cases" Made a sharing report.

 Let us follow in the first session, Professor Liu Yanying from the Department of Rheumatology and Immunology, Peking University People’s Hospital, to start a journey of difficult rheumatism~ There are 5 cases in the full text.
Test yourself to the first one to be driven crazy~ Fibrosis reported by 1CT Is it fibrosis? Let's take a look at the characteristics of the case first.
.
.
Table 1 Case characteristics of Case 1 Professor Liu Yanying emphasized several points in the case: creatinine was as high as 595μmol/L; previous biopsy supported retroperitoneal fibrosis; effective after hormone treatment; lactate dehydrogenase and Alpha-hydroxybutyrate dehydrogenase exceeds 1000U/L; immunoglobulins are all low.

 CT examination report: retroperitoneal mass, 13.
1cm x 10.
3cm x 19.
6cm, considering retroperitoneal fibrosis, the mass enveloping the surrounding blood vessels and the left ureter, accompanied by atrophy of the left renal parenchyma and left hydronephrosis.

 Figure 1 Comparison of the results of the patient's pelvic CT before and after seeing this, I believe many friends are starting to consider retroperitoneal fibrosis.

After all, the previous biopsy and CT report showed retroperitoneal fibrosis.

 but! The CT results are not just for looking at the report sheet! You have to see the result of CT interpretation for yourself! Professor Liu Yanying discovered the mismatch between the CT findings and the report.

Professor Liu Yanying pointed out that the boundaries of retroperitoneal fibrosis are generally clear.

However, observing the CT image of this patient, the boundary between the mass and the blood vessel is blurred, and the boundary of itself is blurred, which does not conform to the imaging characteristics of retroperitoneal fibrosis.

 Re-doing the pathological examination of the mass tissue found: Figure 2 Pathological results of the re-biopsy This result is also confirmed, the patient is non-Hodgkin's lymphoma, which is the diffuse large B-cell lymphoma named by the WHO.

 In response to this case, Professor Liu Yanying reminded: the diagnosis of retroperitoneal fibrosis must have a typical manifestation; when the manifestation is atypical, a biopsy must be used, or even multiple biopsy to confirm the diagnosis.

 Hold back the irritability! Let's take Kangkang's second case~ 2 Strongly positive for IgG4 in blood, is it an IgG4-related disease? Let’s read the case characteristics first~ Table 2 Case characteristics of case 2 The upper abdominal MRI imaging data are: Figure 3 MRI image of the upper abdomen of Case 2.
This MRI result shows that the intrahepatic bile ducts are frequently dilated, and the wall thickened with enhancement.
The head of the pancreas is swollen with widening of the pancreatic duct; there are multiple swollen lymph nodes behind the abdominal cavity, and the lymph nodes tend to fuse.

 The typical retroperitoneal lymph node hyperplasia and swelling, coupled with the patient's serum IgG4 is indeed very high, so most people will immediately think of IgG4-related diseases.

However, Professor Liu Yanying reminded that IgG4-related diseases will have multiple lymph node involvement, but they are scattered; and this patient has more retroperitoneal lymph nodes, larger in size, and fusion tendency, which is not very consistent with the lymph node changes of IgG4-related diseases.

 However, considering the changes in the biliary tract, Professor Liu Yanying said that he still hopes that the diagnosis can be explained by monism.

Finally, through a biopsy, the pathology did not support IgG4-related diseases, but it was confirmed that this patient had a fungal infection of the biliary tract.

(Some people may never encounter one such patient in their lifetime.
.
.
) Don't be dizzy, don't be dizzy, half of them haven't arrived yet~ 3 antibody positive + low C3, what else can it be if it is not lupus? The old rules, the characteristics of the case! Table 3 Case characteristics of Case 3 At first glance, this case is really complicated.
.
.
With so many autoantibody positives, low C3, and various systemic symptoms, isn't it a lupus erythematosus disease? However, Professor Liu Yanying emphasized that although this patient has some autoantibodies positive, including the highly specific anti-dsDNA of SLE, there are still two doubts. First, the patient does not have typical systemic lupus erythematosus manifestations, such as oral ulcers, joint swelling and pain.

Second, the patient's inflammation level, globulin, IgG, and antibody levels did not significantly improve after high-dose hormone therapy; and after the hormone amount was reduced to 7 tablets, the patient had fever again.

 Since the patient's liver was found to be very large during physical examination, the patient's abdominal CT was further performed.

 Figure 4 CT imaging of the liver of Case 3 However, CT of the liver can only show some small retroperitoneal lymph node hyperplasia.

 Considering this patient's liver is so big, let's do a PET-CT to check the tumor.
.
.
but there is no positive finding.

 Figure 5 The PET-CT result of case 3 returns.
The lymph node biopsy is continued, but there is still no positive findings, just reactive hyperplasia.

 Since the patient's liver enlargement is a very obvious sign, he continued to perform a liver biopsy.

But the results of the biopsy are not simple.
I don’t know if I don’t check it.

It turned out to be a kala-azar.
.
.
Figure 6 Liver biopsy results for this patient, Professor Liu Yanying emphasized that although the clinical manifestations resemble lupus erythematosus, but the symptoms of immune disease are not typical and there is no obvious improvement after treatment, it is necessary to consider whether it is other diseases Up.

 The revolution has not yet succeeded, comrades still need to work hard! Hold on again~ 4 Is monism still effective for this patient.
.
.
The characteristics of the hot case are here~ Table 4 The characteristics of the case of Case 4 At the time of admission, the patient had endocrine abnormalities, abnormal skin pigmentation, and liver and spleen lymph nodes.
Swelling, Professor Liu Yanying first thought of POEMS syndrome.

But after doing blood and urine M protein, VEGF and IL-6 examinations, no obvious positive signs were found.

 The special performance of Zaikangkang patients: obvious skin depigmentation and calmness.

 Figure 7 Clinical manifestations of Case 4 After further improving the chest and abdomen CT, except for the enlarged liver and spleen lymph nodes, no other lesions were found.

 Figure 8 The chest and abdomen CT in case 4 affected the results and continued to perfect other auxiliary examinations for this patient.

 Figure 9 The auxiliary examination result of Case 4 but almost no positive result.
At this point, the diagnosis is deadlocked.
.
.
After the whole hospital consultation, considering that the most prominent of the patient is the swelling of the liver and spleen lymph nodes, the patient was mobilized.
PET-CT examination.

PET-CT results showed that the patient's liver and spleen lymph node metabolism increased.

Figure 10 PCT-CT examination results of Case 4 Then, the patient was mobilized to perform a second lymph node biopsy.

 At this time, there is really another village.
.
.
the second lymph node biopsy results show that the patient is angioimmunoblastic T-cell lymphoma.

 Only the last one left.
.
.
the blame didn't kill, he was stupid.

 The finale of 5 multi-system involvement! Alas.
.
.
Let’s take a look at the characteristics of the case first.

Table 5 Case characteristics of Case 5 Let's look at the patient's physical examination on admission.
There are chapped changes around the nails of both hands, and the joints of the fingers and the metacarpophalangeal joints have pigmentation.

In addition, there are petechiae and swelling of the lower limbs.

So is it an atypical dermatomyositis change? Figure 11 The physical examination of case 5 The auxiliary examination after admission does not seem to have a lot of directional signs.
.
.
Figure 12 The auxiliary examination result of case 5 is for this patient with no obvious signs of directional signs, and Professor Liu Yanying will show all the findings make a list of.

After sorting out, it was found that it was multiple and multiple system damage, so I focused on connective tissue disease (CTD), tumor and endocrine disease.

 Figure 13 Professor Liu Yanying's diagnosis idea 1 In combination with the patient's admission, the blood pressure has been rising, and there is still hypokalemia in the case of potassium supplementation.

Therefore, Professor Liu Yanying focused the main contradiction on the cause of hypertension and hypokalemia.

 Figure 14 Professor Liu Yanying's diagnosis idea 2 So further auxiliary examinations and imaging examinations were done.

 Figure 15 Further auxiliary examination results of case 5 The following figure shows the CT results of the adrenal glands of this patient.
Both adrenal glands are thickened.  Figure 16 Chest CT imaging results of Case 5 Further investigation, chest CT showed a soft tissue density nodules in the anterior mediastinum, with clear boundaries, about 2.
1cm×1.
6cm in size.

 Figure 17 Imaging examination of Case 5 Finally, a pathological section was taken of the tumor of the patient's anterior mediastinum, and it was found to be a paraganglioma.

 Figure 18 Pathological biopsy results of the anterior mediastinum mass of Case 5 It has to be said that ectopic ACTH secretion syndrome caused by thymic paraganglioma is an extremely rare disease.

Up to now, there are only 2 cases reported internationally, including this patient.

 Finally, the patient was successfully diagnosed with paraganglioma.

 Figure 19 At the end of sharing the diagnosis of Case 5, Professor Liu Yanying reminded everyone that if you want to diagnose the disease, you must ask for a detailed medical history, carefully standardize the physical examination, peel off the cocoons, and look for the differences in the same, so that you can see the moon and the moon.
Make a clear diagnosis! During the discussion, Professor Su Yin from Peking University People's Hospital emphasized the biggest feature of Professor Liu Yanying's case sharing-tracing the source.

If the patient’s condition is undiagnosed or unexplained by conventional treatment or examination, follow-up and examination should be continued to help the early diagnosis.

In addition, Professor Su Yin also raised three questions regarding Professor Liu Yanying's case sharing.

 Q1: Retroperitoneal fibrosis requires pathological diagnosis to be diagnosed.
However, some patients cannot be diagnosed with pathological examination.
Is there any other way to help diagnose the disease? A: Clinically, because the location of retroperitoneal fibrosis is close to large blood vessels, there is a high risk of pathological puncture, so most patients cannot undergo pathological examination.

Therefore, it is now recognized that the diagnostic method of retroperitoneal fibrosis is mainly imaging examination.

The criteria for imaging diagnosis of retroperitoneal fibrosis are: when the soft tissue is wrapped around the aorta, especially the aorta below the branch of the renal artery, the diagnosis is of great significance.

However, the imaging of many patients is not so typical, so it is more often necessary to comprehensively evaluate and diagnose other aspects of the patient's performance.

 Q2: IgG4-related diseases are easily neglected in clinical practice.

What symptoms do patients need to consider, and which tests help diagnosis? A: In the 2019 diagnostic criteria for IgG4-related diseases, it is proposed that the main basis for the diagnosis of IgG4-related diseases is the typical imaging findings of typical parts.

Typical sites include submandibular glands, parotid glands, lacrimal glands, pancreas, biliary tract and retroperitoneum.

If there are lesions in these typical parts, IgG4-related diseases can be given priority.

Secondly, it is necessary to combine the patient's serological and pathological evidence to assist in the diagnosis.

In addition, infections, tumors (especially lymphomas) and other diseases with similar manifestations should also be excluded.

 Q3: Most diseases in the Department of Rheumatology and Immunology are diseases involving multiple organ systems.
There are many challenges in diagnosis, such as the need for invasive pathological diagnosis, repeated PET-CT and other examination methods.

In this case, how to diagnose as soon as possible to alleviate the suffering of patients? A: The first thing is to ask the medical history carefully.

Taking the case of kala-azar as an example, it was found that the patient had no previous manifestations of systemic lupus erythematosus such as recurrent oral ulcers, joint swelling and pain, Raynaud’s phenomenon, etc.
during repeated medical history.

Therefore, even if this patient is positive for dsDNA, systemic lupus erythematosus is not considered.

The second is to look at the effect of clinical treatment.

If a patient is treated with hormones according to the diagnosis of lupus, the anemia is not corrected after treatment, the globulin has not returned to normal, and the inflammation is still increasing, it is necessary to reconsider whether the patient is systemic lupus erythematosus.

Standardized physical examination is also very important.

In the shared cases, two patients were finally focused on hepatosplenomegaly and were diagnosed after biopsy.

However, hepatosplenomegaly was not reflected in the information provided by the foreign hospital.

However, as long as a standardized physical examination is performed on admission, it is easy to find enlarged liver and spleen lymph nodes.

Comprehensive evaluation of laboratory results.

Some patients have rheumatic immune antibodies in the serum, but the clinical manifestations are not typical of rheumatic immune disease.
At this time, it is necessary to draw a question mark on the diagnosis of rheumatic immune disease. Expert profile Professor Liu Yanying, chief physician and associate professor of the Department of Rheumatology and Immunology, Peking University People’s Hospital, Ph.
D.
, Peking University, Postdoctoral Fellow, Karolinska University, Sweden, Chinese Medical Association Rheumatology Branch, Youth Committee, Chinese Medical Association Internal Medicine Branch, Standing Committee Member of the Immune Purification and Cell Therapy Group And Deputy Secretary-General of the Standing Committee of the IgG4 Related Diseases Group of the Cross-Strait Medical and Health Association and Secretary-General of the Chinese Medical Doctor Association National Physician Regular Assessment Specially-appointed experts as the main contributors, respectively won the second prize of Beijing Science and Technology, the second prize of Chinese Medical Science and Technology, and Beijing 1 second prize for medical science and technology each