v3 Chapter 926： Rare disease constitution?

Chapter 926 Rare disease constitution?

"Didn't he have an angiogram four years ago, and he didn't have any problems, what is he afraid to do?"

Jin Miao stood aside and asked.

However, Gu Xinyue shook her head slightly: "I think it's actually similar to 'heparin-induced thrombocytopenia'. After all, no matter how low-probability an event is, there are two cases for patients, non-occurrence (0%) and occurrence (100%) )."

Doctors can make mistakes, but for patients, they cannot afford the serious consequences of any mistakes.

Lu Chen smiled and nodded: "It should be beneficial and harmless to think more about it. For example, is it okay to use heparin and contrast media again during the operation? Will it interact with the patient's unknown disease? Continue to take coronary heart disease-related drugs aspirin and statins for a long time. Will it aggravate the abnormality of liver function?"

Lu Chen appreciates Gu Xinyue's ideas.

In clinical practice, considering one more situation can always prevent some unknown events in advance.

Gu Xinyue continued: "So I've been thinking these days, can the patient have an angiography? What are the complications of the angiography? These issues need to be communicated with the patient's family."

Jin Miao also felt quite reasonable after hearing this.

"How is the patient's liver function?" Lu Chen asked.

Gu Xinyue quickly handed over an auxiliary examination.

Lu Chen picked it up and took a look.

Auxiliary examination results reported, liver function: total bilirubin 224.8 μmol/L, direct bilirubin 13.25 μmol/L, indirect bilirubin 211.55 μmol/L.

In addition, alanine aminotransferase, aspartate aminotransferase, total protein, albumin, globulin, etc. were all normal.

Myoglobin, coagulation series, infectious disease series and other routine and biochemical tests were normal; abdominal color Doppler ultrasound was normal.

"Please ask a gastroenterology consultation first." Lu Chen said.

Industry specializing in surgery.

Lu Chen does not know about every disease.

In some meticulous specialty areas, it is definitely still the best at specialists.

Gu Xinyue said helplessly: "The patient said that he had seen a doctor before, and he had seen the gastroenterology department twice. He didn't want to see it again, and hoped that coronary intervention could be arranged as soon as possible."

Lu Chen was taken aback, "This..."

This patient is really anxious.

Actually, according to the patient's condition, coronary intervention is not so urgent.

Thinking of this, Lu Chen recalled that he seemed to have seen jaundice caused by genetic factors in a document many years ago.

The general content of    seems to be relatively close, but the name of the diagnosis is in English.

I can't remember anything now.

"Forget it, I'd better communicate with the patient first." Lu Chen said, "Let him wait for the cardiac interventional surgery and clarify the digestive diseases first."

"it is good."

Gu Xinyue smiled, Lu Chen would do it.

As long as Director Lu communicates with the patient, it will be easy to handle.

followed.

Lu Chen followed Gu Xinyue to the ward.

After some communication with the patient, the patient finally agreed to postpone the intervention.

"Director Lu, I have been sick for many years, are you sure you can find the cause?" the patient asked in confusion.

Lu Chen smiled, "I don't know now, I can go back and check the information. In short, it seems that your disease should have no effect on body functions, but we still have to be careful."

"Director Lu, you are really sincere, you said to go back and check the information..." The patient also laughed.

The average doctor will always try his best to show his knowledge.

But Director Lu in front of him is really sincere, do you really want to go back and check the information? !

"My major is Cardiology. Speaking of Cardiology diseases, I can tell you a thing or two." Lu Chen said, "But when it comes to diseases other than Cardiology, I don't have much confidence, so I have to be cautious. it is good."

"Well, I'll wait for the good news from Director Lu."

…

After returning to the office.

Lu Chen immediately started looking for relevant information.

searched for most of the day.

He finally found the diagnosis name of the disease, and by the way, he looked at other possible diseases.

"Gilbert Syndrome?!"

When Lu Chen thought of the diagnosis name, a prompt popped up on the system panel.

"Congratulations, the completion of the system upgrade has increased!"

Lu Chen was stunned for a while, this is really the diagnosis!

Gilbert syndrome is a congenital non-hemolytic disease mainly due to bilirubin binding disorder, which leads to elevated indirect bilirubin levels in the blood.

The inheritance pattern is usually autosomal recessive, but may also be dominant.

can occur at any age, is characterized by intermittent jaundice, and has no effect on life expectancy.

Foreign reports have reported that the incidence of Gilbert syndrome is 3-13%, with more men than women.

Lu Chen found that there is no large-scale epidemiological survey data in China.

Visible, it is not a rare disease.

Of course that is for gastroenterologists, not for cardiovascular physicians.

The next day.

Lu Chen informed Gu Xinyue of his thoughts.

"Director Lu, how should you diagnose Gilbert syndrome?" Gu Xinyue said.

"Check your genes!" Lu Chen said slowly.

This is a genetically inherited disease, and Gilbert syndrome can only be diagnosed through genetic testing.

After communicating with the patient, Gu Xinyue agreed to check the genes.

After   , the patient had a genetic test, and the result finally came after a long wait.

Patient genetic testing report: gene UGT1A1, variant information c.1456T>G (p.Tyr486Asp), gene UGT1A1, variant information c.211G>A (p.Gly71Arg)!

So far, Gilbert syndrome is considered based on the clinical manifestations of the patient and auxiliary examinations.

This diagnosis was also recognized by colleagues in gastroenterology.

"Now there is a problem!" Lu Chen said to Gu Xinyue, "Gilbert syndrome is usually asymptomatic. However, severe physical exertion, fasting, lack of sleep, alcohol, dehydration, surgery and concurrent diseases may aggravate the patient's jaundice! "

"You mean the surgery may aggravate the patient's condition?" Gu Xinyue said.

"Yes! There is definitely such a possibility. Although the probability is low, it cannot be ruled out." Lu Chen nodded, "So we must communicate well with the patient, and the liver function must be reviewed during the operation."

in the ward.

After the patient learned of the diagnosis, he was a little anxious, "Is this English disease of G or something serious?"

Lu Chen smiled and comforted: "It's usually a benign disease that doesn't require special treatment. However, surgery may aggravate jaundice, so we need to communicate with you in advance."

Hearing this, the patient breathed a sigh of relief and said with a smile: "I know this, as long as the disease is fine, it will be fine. There are many relatives in my family who have this disease. As for interventional surgery, I must be aware of the risks."

"If you can understand it, that's fine."

After communication and notification of possible risks, the patient still chose to have coronary angiography.

Postoperative re-examination of liver function: total bilirubin 285.84 μmol/L, direct bilirubin 14.7 μmol/L, indirect bilirubin 271.14 μmol/L, and other items were normal.

Bilirubin indicators, all rise.

Lu Chen checked the relevant literature again and found no relevant literature on the effect of contrast agent or heparin on the elevation of bilirubin in patients with Gilbert syndrome.

Considered comprehensively, it is still related to surgical stress.

After three days of observation, bilirubin levels naturally decreased.

"It's another rare disease! Incident cases can be reported!"

Gu Xinyue sighed involuntarily.

Following Lu Chen's side, the probability of encountering such rare diseases is really high!

Director Lu might have a physique that attracts "rare diseases"?

Jin Miao smiled.

"This is Director Lu's eyes. If others encounter this kind of disease, they don't diagnose it, and they just miss it, then they won't encounter rare diseases!"

(end of this chapter)