Urbach-Wiethe disease is an illness that turns the body into fearless hostage of his own molecules (10 photos)

In the world of rare diseases, there are ailments that even most doctors have never heard of, let alone us ordinary people. Urbach-Witt disease is one such mystery.





This is a genetic disorder in which the body literally "forgets" how to properly handle fats. The result is a slow but inexorable transformation of the skin, mucous membranes, and internal organs into dense, waxy structures. Why does this happen, and how do those who have been diagnosed with this disease live?

Case History



Erich Urbach

The disease is named after two German doctors, Erich Urbach and Camillo Wiethe, who described the first case in an 11-year-old girl in 1929. Her skin resembled parchment, her voice was hoarse due to thickening of the vocal cords, and her internal organs gradually acquired the density of stone. At that time, doctors could not understand the cause, but they already knew: it was not an infection or an allergy. Only in the 1970s did geneticists link the disease to a mutation of the LIPA gene, which is responsible for the breakdown of lipids.

A body that "freezes"



The skin of patients thickens

Urbach-Wiethe disease manifests itself in early childhood. Its main symptoms include the following:

Waxy skin: the epidermis becomes dense, stretches, forms deep folds, especially on the neck, elbows and knees.

Thickening of the mucous membranes: the vocal cords, tongue and airways lose elasticity, which leads to hoarseness, difficulty breathing.

Damage to internal organs: fatty deposits accumulate in the liver, kidneys, heart, disrupting their function.

Neurological problems: seizures, developmental delays due to damage to the nervous system.





Patients often become prisoners of their own bodies: even facial expressions and gestures are difficult. It all starts with a mutation in the LIPA gene, which codes for the enzyme lysosomal acid lipase. This enzyme breaks down fats (lipids) in cells. If it doesn't work, lipids accumulate in lysosomes - the "garbage bags" of the cell. Over time, this leads to their destruction and replacement with fat masses.

The disease is inherited in an autosomal recessive manner: the child must receive the defective gene from both parents. The chance of such a coincidence is 25% if both parents are carriers of the mutation.

Diagnosis and treatment



Mucosal membranes are very much affected

Diagnosis is made on the basis of the clinical picture (characteristic changes in the skin and mucous membranes), biopsy and genetic testing confirming mutations in the LIPA gene.

The problem is also that the symptoms are similar to other rare diseases (for example, lipoid proteinosis of the skin). Many patients wander from doctor to doctor for years before they learn the truth.

Unfortunately, Urbach-Wiethe disease is incurable. Therapy is aimed at relieving symptoms. These include moisturizers, topical steroids, surgical removal of excess tissue, tracheostomy, and anticonvulsants.



Gene therapy is being tested in the US to "fix" a broken gene. Patients with Urbach-Wiethe disease face not only physical suffering, but also social stigma. They are often mistaken for burn victims or unknown infections. People stare, whisper, point, run away...



I'm not scared!

But the scariest thing is that patients suffering from Urbach-Wiethe disease do not have a sense of fear due to the absence of the amygdala in the brain, which is destroyed as a result of the disease. They may look or seem like absolutely full-fledged and adequate people until they encounter a dangerous threat, at the sight of which an ordinary person would run away.

And such patients do not feel it and do not identify it. They can calmly step into a burning house, pick up a poisonous snake or stick their fingers into a socket. Pathological fearlessness accompanies patients until the end of their lives. And no factors - neither acquired life experience, nor common sense, nor advice from others can influence it.



But there is hope. And although only about 300 cases of this disease have been recorded and described in medicine, research continues. And the latest studies have shown that it is possible to scare patients if you use air inhalation with a high content of carbon dioxide - about 35%.



For a person with Urbach-Wiethe disease, such games are not a problem

Urbach-Wiethe disease reminds us how fragile and complex our biology is. Each gene, each enzyme is an important component of the balance. By studying such rare diseases, scientists are bringing closer the day when gene therapy will be able to correct errors in DNA.