Hereditary angioedema is a rare autosomal dominant disorder characterized by episodic, self-limited, localized nonpitting edema of the skin and mucous membranes.

The disease has an unpredictable onset, most has a family history, can occur at any age, usually begins in childhood, worsens during adolescence, and is often accompanied by abdominal pain, nausea and vomiting, and skin swelling, but because these symptoms are not specific, they are often treated as common gastroenteritis and allergies.

Patients with this type of disease mainly have clinical manifestations such as facial subcutaneous edema, respiratory mucosal edema, gastrointestinal mucosal edema, abdominal pain, etc., and the most fatal is upper respiratory tract mucosal edema, that is, "laryngeal edema", which can rapidly progress to cause patients to have difficulty breathing or suffocation, which is life-threatening.

Although the general direction of the iris group has been locked, the process still needs to be followed, and the course data should be improved, other diseases should be excluded, and biochemical, immune, imaging, pathology and other related examinations should be carried out.

Among them, the CT results are worth mentioning, the imaging report shows that the intestinal wall of the small intestine in the right lower quadrant of Panmela is thicker, and the intestinal wall of the stomach, ileocecal region, ascending colon, hepatic flexure of the colon, and transverse colon is slightly thicker, and the serum complement is also reduced.

In other words, the patient is not only swollen in the hands and mouth, but now even the intestines are swollen, and the complement is not normal. Basically, eight or nine is not far from ten.

However, in order to further confirm the diagnosis, Iris Tiantuan also arranged for C1 inhibitors and genetic testing for little Panmilla.

Because 90% of patients with hereditary angioedema have been reported to have a decrease in serum C1 esterase inhibitors, the addition of a C1 inhibitor is a good screening agent.

If the result is negative, it means that it may be other types, because there are three types of the disease, and the other two types account for only 10%, and the corresponding treatment methods are also different.

The results showed that the concentration of C1 inhibitor in Little Panmila was 0.05g/L, which was lower than the normal value, and it was in the 90% range, which belonged to type I. The results of gene sequencing showed that c.1480C>T heterozygous mutation occurred on the SERPING1, resulting in the failure of the synthesized related proteins to perform their functions correctly.

All the data were combined, and after everyone discussed it, the diagnosis of "hereditary angioedema type I" was finally diagnosed.

After the clouds are cleared, symptomatic treatment begins. Although there is no cure for this rare disease, symptomatic treatment can well control the patient's condition, so that the patient can return to normal studies or work as soon as possible, and become a normal person again.

Moreover, early identification and timely intervention can help reduce the frequency of disease attacks, reduce the impact of diseases on patients' daily life, and effectively prevent the occurrence of fatal laryngeal edema.

To put it simply, after the symptomatic treatment of the iris Tiantuan, although the root is not broken, the situation that can occur almost every month in the past can now be managed for a year and a half.

And as the number of treatments increases, this "normal" time can be longer.

This drug does not require surgery, and Nanako Chiba helped select a drug called lanalimumab injection, which is very suitable for this condition.

With the help of the Iris Celestial Group, little Panmilla's abdominal pain, vomiting, edema and other symptoms were soon relieved, and the Simmons took her home happily.

It can be said that this is the fastest they have encountered since they saw a doctor.

If you have another attack next time, continue to come to the iris clinic for follow-up, because you have been diagnosed before, you can even skip all kinds of examinations, and start direct symptomatic treatment, which will speed up and save money.

In the past, their family was treated in other places, tossing and turning, and there was no shortage of examinations and hardships.

……

Sequoia Tree Hospital, Texas.

In the intensive care unit, Beatallis Grace, a 21-year-old Texas girl, is lying in a hospital bed, intubated, ventilated, and with hemodialysis equipment nearby.

The disease is not curable.

Just half a month ago, this girl was fine, and then she suddenly fell ill without any obvious trigger.

Even, before "falling", there was only a slight fever, as well as paroxysmal coughing.

After treatment at a clinic near her home, her condition worsened, and the clinic doctor did not give a clear diagnosis, so she hurriedly referred Beatrice Grace to Sequoia Tree Hospital.

This hospital has grown to become the best hospital in the area. There used to be a hospital that could go hand in hand, but now it can't catch up. That hospital doesn't have a boss as powerful as Zhou Qiao.

After arriving at Sequoia Tree Hospital, the girl's condition progressed rapidly, with severe infections and respiratory failure, and she had to be transferred from the general ward to the ICU.

In the United States, ICUs are just as expensive. If you want to be treated decently, for an ordinary family, it is not inferior to a mountain.

But at this moment, Beatolis's family is in no mood to worry about the medical bills. That's all after you get the bill. Now, I want to see what the doctor has to say.

Beatolis's mother asked very worriedly, "Doctor, what is my daughter's disease?" Can you be cured? ”

Doctor: "......"

There was silence for a moment.

The families are even more anxious.

"Doctor, what kind of illness are you talking?" Bellatolis's father asked, furious.

The doctor hesitated for a moment, but had to tell the truth: "Actually...... We don't know what it is. ”

"What?"

"Oh my God, I don't even know what the disease is, so how can I cure it?"

"yes, isn't that a blind treatment?"

"Isn't your Redwoods Hospital the best hospital in Cristmills County?"

"Poor little Bellolis, you are so pathetic. It's just my 21st birthday. ”

"Otherwise, let's go to the University Hospital of Houston quickly."

Beatolis's family was as anxious as ants on a hot pan.

The doctor's eyes suddenly lit up, and he hurriedly reassured him, and said: "Don't worry, Beatolis's illness is very strange, most of it is a rare disease, the second boss of our Sequoia Tree Hospital, is a top doctor in North America, he has just opened a rare disease diagnosis and treatment center, we can ask him to come for consultation." ”

"Ah, that's just great. Is it the young and promising Dr. Zhou? I've heard it before, why didn't you say it sooner? ”

Doctor: "I just thought of it." ”

"Then hurry up and please." Beatolis's family urged.

The doctor said, "I'll report to the director right away." "The heart said, where am I qualified to directly instruct Doctor Zhou.

He is not allowed to report to the director, who then reports to the dean and then conveys it to Dr. Zhou. Sometimes, I have to report to Boss Luoya extraly.

For some other trivial matters, Sequoia Tree Hospital can not report it, but if you want to use Doctor Zhou, even if it is out of courtesy, then you have to ask Luo Ya's big boss.

Soon, the doctor came back to share the good news, Dr. Zhou had opened the telemedicine platform and gathered the backbone of various departments of the hospital to conduct remote consultations.

Beatolis's family was disappointed.

Because, they thought it was that Dr. Zhou came from California immediately.

Unexpectedly, it was just a remote consultation.

Isn't it reliable?

Will there be misdiagnoses? After all, after such a long distance, there is still a big difference between the diagnosis from the video and the data and the person in person, right?

Beatolis's family questioned it.

The Doctor: "......"

"In fact, remote guidance is more time-sensitive, so far away, when Dr. Zhou is free to come over, the patient is afraid of ...... Don't worry, since Dr. Zhou asked, there must be no problem. Dr. Chow has never had a disease that could not be diagnosed. ”

After some reassurance, everyone had to wait patiently.

Anyway, the consultation has already begun, and in a few hours, there should be a result, right?

Now that Beatoliss is in the ICU, she can support it for a few days, not a few hours. In addition, they are also worried that even if they go to Houston, they will not be able to find the cause and cannot be effectively treated.

And if you go to Houston, medical insurance may not be available, and it is said that the big hospitals in Houston are more expensive, and you will have to go bankrupt when the time comes.

In the conference room on the second floor of the Iris Clinic, the members of the Tiantuan gathered together again, turned on the large-screen projection, and conducted an emergency multidisciplinary consultation with the team of Sequoia Tree Hospital.

The team at Sequoia Tree Hospital was in a much larger conference room and also on a big screen, because they were more numerous, more than 30 people.

Boss Zhou personally consulted, and everyone fought for the opportunity to come and participate. A little can be learned.

And when I talk to people in the future, I also had a multidisciplinary consultation with Boss Zhou, which is very face-saving.

The patient was admitted to the ICU because of persistent high fever, body temperature up to 40.1°C, thrombocytopenia, scattered rash on the face and abdomen, generalized edema, and ineffective conventional treatment, resulting in aggravation of infection and respiratory failure.

After understanding the situation, considering that the patient had renal failure and thrombocytopenia, they instructed the Sequoia Hospital team to conduct clinical examinations related to autoimmune indicators, thrombotic microangiopathy, renal biopsy pathology, and genetic testing for the patient.

Due to the urgency of the condition, everything is an urgent service. Of course, the corresponding costs are also high.

Although the Sequoia Tree Hospital was built by Luo Ya to canvass votes, it is not a loss-making business. Because the profits of medical care are simply too high.

Then, when the test results came out, they were immediately sent to Zhou Qiao's mailbox.

Send one out and one out instead of waiting for all to come out and send them all together.

It's like going to war.

Sequoia Tree Hospital continued to report data, and Zhou Qiao worked with the sisters to carry out in-depth analysis.

Due to overtime, everyone did not go back at night and continued to work overtime in the clinic.

Elena and Ava are also here, although they can't help much, but Zhou Qiao works overtime, and they have nothing to do when they go back.

Elena is very virtuous, and takes Ava with her to help everyone prepare snacks and drinks, without the slightest princess shelf.

Working overtime, you always have to eat and drink to be interesting. Otherwise, it's too hard, isn't it?

Zhou Qiao joked: "The dessert made by the princess herself is even more delicious." ”

Elena leaned into her ear and whispered, "Is it delicious for me and my sister?" ”

Zhou Qiao hurriedly whispered: "Of course it's not as delicious as yours, it's just ...... There are so many people, how can we be less ......"

"You're still pretending to be ......," Elena pouted.

Zhou Qiao: "......"

On the other side, Stephanie felt ripples in her heart: "Tonight, Joe shouldn't eat us together, right?" ”

Oh my God, six people together, it's a delicate body to think about.

After all, there are fewer opportunities for the five of them to work overtime together. It was the first time they had known each other.

Although she and Murphy are both pregnant, the pre-pregnancy period has passed, and it is time to exercise in that area appropriately. As long as the action is not too intense, it is okay.

Although she and Murphy are not very harmonious, there is no need to be embarrassed by Elena, Ava and Nanako Chiba at the scene to adjust the atmosphere.

To be honest, Stephanie was looking forward to it.

Not only Stephanie had this idea, but even Nanako Chiba had this shameful idea. The heart said, if it really happens, is she refusing? Or do you want to stay and join in?

Thinking about it, I didn't know what to do for a while.

It's a pity that they think too much, and Zhou Qiao doesn't have that thought, at least, before the patient's condition is clear, there will be no leisure.

In addition, Zhou Qiao has not yet reached that point. Three people are already very exciting, and a few more will be a little too much to take care of.

Then, he was told by Elena, a bit of a fake serious. Six people, in the clinic again, this ...... This...... It's a bit of a shame. I'm afraid that some of the girls will be unhappy, if the other party doesn't accept it, but collapses, it won't be beautiful.

For example, Murphy......

Various data were sent urgently, including hemolytic indicators and complement-related indicators, etc., and finally, at dawn, Iris Tiantuan was finally diagnosed.

Beatolis's condition is likely to be an extremely rare form of atypical hemolytic uremic syndrome (aHUS).

About a 7 in a million odds.

Of course, although this rare disease is rare and the "winning rate" is extremely low, the probability is actually quite high compared with the disgusting big lottery and two-color ball.

The odds of winning the jackpot in the former are only 1 in 21.42 million, while in the latter it is 1 in 17.72 million.

The most popular lottery in the United States (Mega Millions), with a probability of winning the jackpot of 1 in 175 million, is the most difficult lottery game in history.

Atypical hemolytic uremic syndrome (aHUS) is a syndrome characterized by the triad of microangiopathic hemolytic anemia, acute kidney injury and thrombocytopenia, with nearly 50% of patients with aHUS developing end-stage renal disease and a mortality rate of 25%.

The diagnosis is difficult due to the lack of specific symptoms, complex etiology, limitations of laboratory testing, and rarity, and requires careful evaluation of the history, clinical manifestations, and laboratory test results, combined with the collaboration of multidisciplinary experts, to make a correct diagnosis.

The doctors of the Iris Flower Troupe, any one of them is a famous general practitioner who suppresses one side, so they can "solve the case" in a very timely and effective manner and find the "culprit".

Beatolis's suffering from this rare disease of 7 out of a million is unfortunate, but at the same time, she is fortunate because she came to Sequoia Tree Hospital and enjoyed the telemedicine assistance of the Iris Celestial Group, otherwise, the consequences would be unimaginable.

Perhaps, this time next year, it will be almost the day of Beatolis's death.

And then there is a little bit of good news, and often, patients with "orphan disease" face the huge challenge of a lack of treatment drugs and extremely expensive in addition to diagnostic difficulties. However, the aHUS disease that Beatoliss suffers from can be treated with an injection called sullire.

This drug, also known as eculizumab injection, is produced by Alexion in the United States, which is one of the most expensive drugs in the world, and is also a recombinant human monoclonal antibody that inhibits terminal complement C5. This antibody has a high affinity for C5, blocks the formation of C5a and C5b-9, and protects mammalian cells from C5b-9-mediated damage, completely blocking complement-mediated blood cell destruction.

Originally, this drug was not used to treat atypical hemolytic uremic syndrome (aHUS), but to treat paroxysmal nocturnal hemoglobinuria (PNH).

Like the previous "old drug reuse" project that Nanako Chiba participated in, clinical studies found that this drug also has a very good effect on aHUS, so the U.S. Food and Drug Administration (FDA) approved it as an orphan drug for the treatment of aHUS patients.

In addition, it can be used for the treatment of adult patients with generalized myasthenia gravis (gMG) who are positive for anti-acetylcholine receptor (AChR) antibodies, and for the treatment of adult patients with neuromyelitis optica spectrum disorder (NMOSD) who are positive for anti-AQP4 antibodies.

It can be said that one medicine is multi-purpose.

This medicine is also available in China, it used to be about 20,000 yuan a piece, and it can't go through medical insurance, and the average family really can't afford it, because one can't be cured, and a lot of it is needed. However, the good news is that from January 1, 2024, the new version of the National Medical Insurance Drug List will be officially implemented, and eculizumab injection will also be included.

Now after the medical insurance reimbursement, the cost of each piece is about 1,000 yuan. Perhaps, with some other medical insurance, it will be cheaper.

Under the high-level guidance of the Iris Tiantuan and the careful treatment of the Sequoia medical team, it didn't take long for Beatolis to be transferred from the ICU to the general ward, and she no longer needed supportive treatment such as ventilator-assisted ventilation and hemodialysis.

The family couldn't be happier. Although the medical bills are high, they are not worth mentioning compared to the precious lives.

After all, money is an external object, and people only live in the world for seventy or eighty years. If you can live fifty or sixty years longer, what is money?

(End of chapter)