What Is Otulipenia? Signs, Symptoms, Causes, And Treatment

Unfortunately, every day researchers are discovering more and more new diseases. Luckily, for many of those new-found diseases, the researchers also succeed in finding a cure and sharing a proper treatment plan for that disease. But, there are a few conditions for which the researchers and doctors have failed to find an effective treatment plan until now. What draws our attention are the findings of the researchers at the National Institute of Health who have found what it seems to be a new, rare but yet sometimes a lethal disease known by the name of Otulipenia. That is why we want to dedicate our article to this new found disease called Otulipenia and share with you everything that you need to know for this disease!

What Is Otulipenia? Signs, Symptoms, Causes, And Treatment

What is Otulipenia and what Causes this Condition?

As we mentioned before, Otulipenia is a new-found, rare but as it shows a lethal disease. This disease was discovered after it had affected four children of Turkish and Pakistani families. These children had shown what are thought to be the earliest symptoms of Otulipenia – skin rash and joint pain. It is thought that this particular disease mainly affects young children. After the researchers from the Institute met the four affected children, they performed a physical exam and different laboratory exams and successfully found what it seemed to be the cause for this disease. What was found was that this disease mainly affects the Chromosome 5 gene, known under the name of OTULIN. The OTULIN gene is a very important gene. If you are wondering why to let us explain! The OTULIN gene has a very important function – this gene has the job to maintain a normal and healthy blood cells growth as well as proteins. This gene also has its own role in the immune system, fighting infections. But when this gene is affected with this new-found disease, the body is no longer able to produce new, healthy blood cells and proteins which affect our body’s immune system’s ability. To make it simple as possible – this disease affects our immune system so that it fights its own tissues and organs. Since the immune system no longer works properly, the body is no longer able to remove what are known as the ubiquitin proteins, which are small proteins that regulate many other proteins in our body. Because the body is not able to remove these proteins, the levels of chemical messengers are increased which results in an infection. And that is how the symptoms of this disease start. Let’s see what the symptoms of Otulipenia are!

immune system

What are the symptoms that indicate the Presence of Otulipenia?

Luckily the researchers have not only found the cause of this disease, but they also have succeeded in determining the symptoms! As we said before, the earliest symptoms are skin rash and joint pain. As the diseases progress, new symptoms start to show. Further symptoms include – fever, joint inflammation, and diarrhea. But enough about the symptoms, let’s find out if this disease is treatable or not!

Is there a Successful Treatment plan for Otulipenia?

Finding out that the researchers have successfully discovered the cause and symptoms of Otulipenia sure does bring a lot of relief, but finding out that the researchers have also successfully treated the affected children is fascinating! As it is a new-found disease, there was no guarantee that the affected children will recover completely, but the researchers still proceed with their suspicions that as this is an inflammatory disease, they can use an anti-tumor necrosis factor which is usually used as part of the treatment for other common inflammatory diseases – e.g. rheumatoid arthritis. After injecting the anti-tumor necrosis factor, the researchers noticed how the symptoms started to go away and their patients recovered! Sure, this new disease needs more investigating in the future as well as the treatment plan that needs to be fully developed but this success cannot go by unnoticed!

Otulipenia Treatment


When we first heard about this new, so-called disease – Otulipenia, nobody could ever imagine that something as small as a gene can cause so many problems. Actually, it is a malfunctioning in this gene that is the cause for this new disease. What was unfortunate to find out is the fact that this disease’s target is mainly young children. But, what can be called a good luck are the easy symptoms that the affected children have experienced – e.g. fever, diarrhea, and joint pain. Another good thing to hear is that the researchers have already found, what it seems to be, an effective treatment plan that has successfully caused recovery of the affected children. What is left to do is for the researchers of the National Institute of Health to fully develop the treatment plan for Otulipenia as well as fully investigate this new-found disease!



Sam Kramer is a Registered Dietitian, Licensed Dietitian Nutritionist, Six Sigma Green Belt Certified, and Certified Sports Nutritionis

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