On this page you can find a summary of the last news and researches from scientist publications sources. Most of these reasearches are pre-clinical conclusions on small groups of people or observations on animals, this article or our products are absolutely not intended to diagnose, treat, cure or prevent any disease. Consult your professional healthcare for any specific condition.

What is Neurofibromatosis?

Neurofibromatosis is defined as a group of genetic disorders that result in the development of many tumors on the nerve tissues. These tumors can occur anywhere, either in the central nervous system (the brain and the spinal cord) or the peripheral nervous system (the peripheral nerves). In general, neurofibromatosis is categorized into three types: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis. Unlike NF1, which occurs in children, both NF2 and schwannomatosis develop in early adulthood. The incidence of NF1 is significantly higher than that of NF2. NF1 occurs in approximately 1 out of every 3,500 live births, while NF2 occurs in 1 out of every 40,000 live births.

The underlying cause for neurofibromatosis is not yet clearly understood. However, it is thought that genetic mutations are the main cause. For example, NF1 is caused by mutations in a protein named neurofibromin 1, which is recognized as a tumor suppressor gene that normally inhibits the formation of tumors under normal conditions. In 50% of cases, NF1 is caused by a genetic mutation in the neurofibromin 1 protein. Meanwhile, NF2 occurs due to the mutation in the tumor suppressor gene (neurofibromin 2). On the other hand, the main cause of schwannomatosis is not well-understood. About 85% of cases have no identifiable cause.

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What are the Symptoms of Neurofibromatosis?

The tumors that develop in patients with fibromatosis are often non-cancerous; however, in certain cases, they may become cancerous (malignant). That being said, symptoms are usually mild. However, if complications occur, severe symptoms may develop, including hearing loss, learning impairment, cardiovascular problems, vision loss, psychological disorders, and severe pain.

The following signs and symptoms may occur:

  1. Numbness or weakness in the extremities (upper and lower limbs)
  2. Severe pain
  3. Imbalance
  4. Facial drop or jaw affection
  5. Visual problems
  6. Seizures
  7. Headaches

Of note, NF1 is characterized by the presence of multiple light brown spots, known as café-au-lait, particularly in the groin and armpits. They can also occur on the chest, back, pelvis, knees, or elbows. These spots may appear during birth or during infancy. Also, these tumors may cause deformity of the curvature of the spine, known as scoliosis.

Meanwhile, NF2 is mainly characterized by the occurrence of tumors in nerve fibers that transmit sound impulses and balance signals from the inner ear to the brain. Therefore, in this type of neurofibromatosis, patients commonly complain of imbalance and hearing problems. Finally, schwannomatosis can present with any of the above-mentioned symptoms.

Symptoms of Neurofibromatosis

What is the Treatment for Neurofibromatosis?

Unfortunately, there is no cure for neurofibromatosis since its mainly caused by genetic mutations in the tumor suppressor genes (neurofibromin 1&2). However, the signs and symptoms that are associated with neurofibromatosis are manageable. In general, the sooner the condition is diagnosed and managed, the better the prognosis and quality of life.

The management of neurofibromatosis typically includes the following steps:

  1. Monitoring:

If a newborn is diagnosed with NF1, the treating physician may recommend regular checkups on a yearly basis in order to assess the following:

  • The child’s skin for the development of café-au-lait spots
  • The child’s blood pressure
  • The child’s growth and development, both physically and psychologically
  • The signs of early puberty
  • The child’s skeletal changes to detect any abnormal curvatures in the spinal cord
  • The child’s learning ability at school
  • The child’s eyes through a detailed ophthalmological exam
  1. Medications:

Selumetinib is the most commonly used drug for plexiform neurofibroma in children. Meanwhile, some promising drugs are currently being investigated in clinical trials in children and adults.

  1. Surgery:

If neurofibromatosis is associated with severe symptoms or serious complications, then surgery and other procedures may be used. The following surgeries are commonly used:

  • Surgical removal of nerve tumors: this procedure can result in the relief of symptoms following the removal of all the tumors that are compressing nearby tissues or organs. In the case of NF2, the physician may recommend surgery to remove the tumor that compresses the brain and the auditory nerve.
  • Stereotactic radiosurgery: In this procedure, the tumor will be irradiated with no skin incision. It is also an option for acoustic neuromas (tumors that compress the auditory nerve) in patients with NF2.
  • Cochlear implants: these devices are used to aid hearing in patients with NF2 or hearing loss.
  1. Cancer management:

Neurofibromatosis is generally non-cancerous; however, in certain instances, it might become cancerous. In this case, the developing cancers must be managed appropriately. The treatment includes standard cancer therapies, such as surgery, chemotherapy, radiotherapy, or combined therapy. The early diagnosis and management of cancer are critical for the prognosis of the patient.

  1. Pain management:

Schwannomatosis is the most common type of neurofibromatosis that is associated with severe pain. Therefore, the following drugs may be used to alleviate pain:

  • Gabapentin and pregabalin
  • Antidepressants, particularly tricyclic antidepressants
  • Selective serotonin reuptake inhibitors (SSRIs) and norepinephrine reuptake inhibitors (NRIs)
  • Antiepileptic drugs, such as topiramate and carbamazepine

Based on the fact that the majority of used drugs are often non-effective and are associated with serious side effects, the need for more effective and safer options has dramatically increased. Therefore, researchers have been investigating other drugs that show promise in alleviating the associated symptoms with neurofibromatosis. Of particular interest, cannabidiol (CBD) has shown great promise as a potential drug in alleviating the symptoms of neurofibromatosis.

What is the Potential Role of CBD in Neurofibromatosis?

CBD is one of the cannabinoids that exist in marijuana. Unlike tetrahydrocannabinol (THC), CBD does not have any psychoactive properties. High-quality evidence concludes that CBD is a potent drug in treating pain, inflammation, and certain types of epilepsy. Since these symptoms are commonly associated with neurofibromatosis, CBD was suggested as a potential therapeutic option for neurofibromatosis.

Based on preclinical and clinical evidence, CBD has the following effects in neurofibromatosis:

  1. Anti-tumor effects:

Some studies reported that CBD has anti-tumor properties, which may be beneficial in limiting the growth or the occurrence of tumors related to neurofibromatosis. In a case report, 2 children with NF1 were treated with CBD over a period of 3 years, and it was found that their tumors were smaller in size (tumor regression).

  1. Analgesic effects:

CBD is known for its potent anti-analgesic effects. Moreover, CBD can improve mood and sleep disorders, which are commonly associated with neurofibromatosis.

  1. Appetite improvement:

CBD is known to increase appetite in normal and diseases people. In people with neurofibromatosis, loss of appetite is a common symptom. Therefore, CBD is hypothesized to be of great benefit in improving appetite in those patients.

Is CBD Effective in Treating Neurofibromatosis-Associated Pain and Mood Disorders?

A recent randomized, placebo-controlled clinical trial investigated the efficacy of cannabis extract (THC/CBD) in treating the neurogenic symptoms of patients that are irresponsive to standard therapy. The trial included 24 patients, of whom 1 patient had limb amputation due to neurofibromatosis. Patients were given one of two interventions: cannabis extract (CBD: THC = 1:1) or placebo. The cannabis extract was given sublingually with a titrating dose ranging from 2.5 to 120 mg/24 hours for 2 weeks. After the completion of the trial, it was observed that the degree of pain was remarkedly lower compared to placebo. CBD/THC also resulted in improvement in bladder control, muscle spasm, and spasticity, all of which highlight the great promise of CBD as a potential drug in alleviating neurogenic symptoms in patients with neurofibromatosis.

In another case report, a 25-year-old woman with NF1 was administered with CBD. The patient complained of severe pain and concomitant mood disorder. The patients started to take cannabis orally containing both CBD 4 mg and THC 1 mg twice a day for 3 months. The patients reported fewer episodes of mood changes and significant improvement in pain.

Despite the promising potential of CBD as an effective drug in treating neurofibromatosis-related symptoms, most of the available evidence is based on case reports and case series of small sample sizes. Therefore, until CBD’s effects in patients with neurofibromatosis are confirmed by high-quality evidence, it is advised not to take CBD for your condition without consulting a specialist in neurofibromatosis first.

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