Neurofibromatosis may not get the same amount of attention as other diseases and disorders, but it is every bit as important for people to know about the dangers. For those who do not know, neurofibromatosis refers to a certain cluster of conditions that a person inherits that are accompanied by a much higher risk of developing tumors, particularly in the brain. Neurofibromatosis is an inhibitor of immune system cell growth, which causes tumors to develop at any given spot in the immune system.
1. How Neurofibromatosis is Defined
This disorder is known as an autosomal dominant. This means that the genes that are affected only need one copy to develop. In a family where one parent is stricken with neurofibromatosis, this gives their children a 50 percent chance of developing the disorder. Cases wherein the person develops multiple copies of the mutated gene are considered to be incredibly rare.
Depending on the individual, neurofibromatosis severity varies greatly. Some who possess the phenotype for the disorder may not experience any symptoms or setback due to a lack of expressiveness, while others are more susceptible. Roughly half of all cases are limited to one member per family, owing to mutations.
2. Forms of Neurofibromatosis
Neurofibromatosis also shows up in certain individuals as a mosaic, meaning that not every cell in their body is affected by the disorder, just some of them. There are three different types of neurofibromatosis: Type 1, Type 2, and schwannomatosis.
Type 1: This form of neurofibromatosis leads to the nerve tissue growing tumors that are often benign, but can cause damages with a person’s other tissues and lead to nerve compression.
Type 2: Tumors grow inside of the cranial nerve and the vestibulocochlear nerve. This typically leads to hearing loss for the patient.
Schwannomatosis: Schwannomas, which are tumors of the cranial nerve, will also develop on the peripheral and spinal nerve.
3. Symptoms
The majority of neurofibromatosis patients do not experience severe symptoms, only mild. Its onset can normally be detected during the childhood years or early adulthood. The tumors often start out as benign, but can become malignant.
4. Effects
The effects of neurofibromatosis are numerous. A person may experience loss of hearing, learning disability, and cardiovascular complications with their heart and blood vessels. The pain can become so severe that the person is permanently disabled. Nerve compression caused by neurofibromatosis can cause crippling pain and permanent loss of vision.
5. Treatment
There are treatments available for the disorder, which are aimed towards stimulating healthy growth and putting a stop to issues before they have a chance to become more serious. If larger tumors begin to grow and press down on vital organs, the person may need surgery in order to experience true relief. Other courses of treatment include physical therapy, medications to dull the pain and radiosurgery.