Neurofibromatosis Types: The Symptoms And Treatment Methods

A progressive autosomal dominant inherited disease, Neurofibromatosis, impacts the nervous system causing tumor formation randomly in the body (and at any time). The skin lesions formed due to Neurofibromatosis typically have pigmented and flat patches. However, on some occasions they form elevated flesh-colored bumps.

Symptoms of Neurofibromatosis include:

• Learning disabilities.
• Freckling in the armpit.
• Enlarged head.
• Short stature.
• Vision disorder.
• Hearing loss.

Neurofibromatosis has three known types. They are:

• Type 1 Neurofibromatosis (NF1): Symptoms include attention and learning deficits; nerve tumors (neurofibromas); heart defects; and bone, skin, and eye abnormalities. NF1 accounts for musculoskeletal and neurofibroma manifestations.
• Type 2 Neurofibromatosis (NF2): Symptoms include balance problems, cataracts, hearing loss, nervous system tumors, tinnitus (buzzing or ringing in the ears), and balance problems. NF2 accounts for peripheral neuropathy, vestibular nerve schwannoma, meningiomas, spinal tumors, and ependymomas manifestations.
• Schwannomatosis (SWN): Symptoms include chronic pain; weakness, tingling, or numbness in toes and fingers, and/or loss of muscle function. Clinical manifestations of SWN include pain, schwannomas, and other tumors.

Neurofibromatosis Treatment Landscape

• Type 1 Neurofibromatosis (NF1): The treatment aims at relieving or controlling symptoms. Seizures and headaches are treated with medications, while Vit D3 deficiency is usually substituted. 
• Type 2 Neurofibromatosis (NF2): Bevacizumab,  a vascular endothelial growth factor (VEGF) inhibitor, is used as an off-label medication. Surgery is always considered as a last treatment option. 
• Schwannomatosis (SWN): The treatment involves functionally restricting schwannomas that can be resected surgically. Co-analgesic drugs (amitriptyline, pregabalin, gabapentin) are used for Neurofibromatosis pain management.

The marketed Neurofibromatosis treatment drugs include lomustine, vincristine,  prednisone, cisplatin, and diphenhydramine. Many key players such as Array Biopharma, AstraZeneca, Novartis, SpringWorks Therapeutics, and Recursion Pharmaceuticals have been working on developing potential Neurofibromatosis therapies.

Source:Neurofibromatosis Treatment Pipeline is Evolving with Potential Therapies, By DelveInsight.