Urbach-Wiethe syndrome is a very rare condition, yet attention is regularly paid to the condition because of a bizarre consequence of this condition. However, this phenomenon only occurs over a longer period of time and not everyone with Urbach-Wiethe syndrome experiences it. The phenomenon is so bizarre that a novel has even been written about it.
What is Urbach-Wiethe syndrome?
The syndrome is caused by a mutation on chromosome 1 (ECM1 gene) and is named after the first people who described the syndrome in 1929. These were the Austrian doctors Erich Urbach and Camillo Wiethe.
People can be carriers of the disease without showing any symptoms. When symptoms do occur, they are often dermatological. This means that there is dry, wrinkled skin that is easily damaged and heals poorly. There are thickenings and nodules in the skin. The eyelids in particular often suffer and are marred with pimples and beads. Poorly healing skin causes many scars and lesions to appear on the skin. In addition to the dermatological symptoms, patients with Urbach-Wiethe Syndrome have a noticeably hoarse voice.
In more than half of the known cases with symptoms, the disease also affects the brain. Hardening occurs in the medial temporal lobes and the amygdala located there becomes hard and can shrivel. This leads to the slow death of the fear center. People with a form of Urbach-Wiethe syndrome that affects the amygdala no longer recognize the emotion of fear in other people and are no longer afraid of anything themselves. Further damage to the medial temporal lobes can, in severe cases, lead to epileptic seizures and a form of autism.
The syndrome does not affect lifespan and there is no medication, although in some cases medication with dimethyl sulfoxide and heparin can reduce the dermatological symptoms.
How common is the syndrome?
There are approximately 300 known cases of Urbach-Wiethe syndrome worldwide. It is striking that a quarter of the cases live in South Africa. These are all descendants of Dutch and German ancestors. It is unknown why the disease is more common there, although it is suspected that inbreeding among a very small group of emigrants may have played a role.
Research into the absence of fear
A lot of research is being done by a University in Iowa into the consequences of the death of the amygdala. There are three people in Iowa who suffer from Urbach-Wiethe, which is a very small number, so for some smaller tests the help of the Pretoria University Hospital is requested. They have discovered that people with this form of Urbach-Wiethe are impossible to scare with outside influences. They feel no fear of spiders, snakes, mice, horror, etc. However, they have managed to induce panic by making the test subjects inhale carbon dioxide. The test subjects felt as if they were going to suffocate and therefore panicked.
Novel by Joris van Os
The Dutch writer Joris van Os has written a book about Urbach-Wiethe syndrome. This book is called The Fear Hunter and is about Jonas Bicker. Jonas is seen as a hero by those around him because of his courage. When it turns out that he suffers from Urbach-Wiethe syndrome, he falls from his pedestal. He then wants to get to know his missing emotion and looks for his fear.
