Neurofibromatosis Calls for Coding a Variety of Symptoms
Recognize manifestations to properly link symptoms to this genetic disorder.
Neurofibromatosis (NF) is a genetic disorder that causes tumors to grow on nerves. The condition is chiefly noticed by small bumps under the skin. Although there are studies, there is no known prevention or cure. I first learned of this condition when I met my wife. Other than her superficial fibromas, she has been fortunate not to suffer additional manifestations. Others are not so fortunate.
Proper coding is reliant on how well you understand this disease.
Differentiate the Two Types
There are two types of NF:
NF Type 1, or von Recklinghausen disease, (ICD-10 Q85.01 Neurofibromatosis, type 1) is a genetic disease that causes multiple soft tumors (neurofibromas) to develop under the skin and throughout the nervous system. NF1 is more common and occurs in approximately one in 3,000 births.
NF Type 2, or bilateral acoustic NF, (ICD-10 Q85.02 Neurofibromatosis, type 2) is a benign tumor that forms intracranially or intraspinally, and is usually associated with the eighth cranial nerve. NF2 occurs in approximately one in 33,000 births.
Both types are a genetic disorder with complications arising from fibromas pressing on the body’s vital areas as their size increase. Neither type is predisposed by race nor gender.
Recognize the Symptoms
According to National Human Genome Research Institute, symptoms associated with NF1 include:
Presence of more than six light brown spots on the skin. (L81.3 Café au lait spots)
Appearance of two or more neurofibromas (pea-sized bumps) that can grow either on the nerve tissue, under the skin, or on many nerve tissues.
Manifestations of freckles under the armpits or in the groin area. (L81.2 Freckles)
Appearance of tiny tan clumps of pigment in the iris of the eyes; Lisch nodules. (H21.9 Unspecified disorder of iris and ciliary body)
Tumors along the optic nerve of the eye; optic glioma. (D33.3 Benign neoplasm of cranial nerves)
Severe curvature of the spine; scoliosis. (M41.9 Scoliosis, unspecified)
Enlargement or malformation of other bones in the skeletal system.
Symptoms vary; however, skin-related symptoms are often present at birth, during infancy, and by a child’s 10th birthday. Neurofibromas may become apparent during ages 10 to 15. Although symptoms such as café au lait spots, freckles, and Lisch nodules pose minimal or no health risk, they can be psychologically distressing. NIH reports 15 percent of individuals with NF1 can have debilitating symptoms, nearly 50 percent of children with NF1 have speech problems, learning disabilities, seizures, and hyperactivity, and less than 1 percent have tumors requiring treatment.
Symptoms associated with NF2 include:
Tumors along the eighth cranial nerve; schwannomas. (D36.10 Benign neoplasm of peripheral nerves and autonomic nervous system, unspecified)
Meningiomas and other brain tumors. (D32.9 Benign neoplasm of meninges, unspecified)
Ringing noises inside the ear, tinnitus, hearing loss and/or deafness. (H93.19 Tinnitus, unspecified ear, H91.8X9 Other specified hearing loss, unspecified ear, respectively)
Cataracts at a young age. (H26.009 Unspecified infantile and juvenile cataract, unspecified eye)
Spinal tumors. (D16.6 Benign neoplasm of vertebral column)
Balance problems. (H81.399 Other peripheral vertigo, unspecified ear)
Wasting of muscles, atrophy. (M62.50 Muscle wasting and atrophy, not elsewhere classified, unspecified site)
Symptoms typically develop during the teenage years. Spinal tumors may result in numbness in other parts of the body.
Code the Diagnosis
NF is diagnosed from a combination of findings. At least two symptoms need to be confirmed for a diagnosis of NF1 in children. Magnetic imaging, X-rays, computerized tomography, and blood tests may also detect NF1 gene defects.
NF2 is diagnosed through hearing tests as well as imaging to look for tumors in and around the auditory nerves, spinal cord, or brain stem. Family history is also an important factor in diagnosing NF2.
Genetic testing is also used in the diagnosis of NF with approximately a 90 percent accuracy rate. Mutation analysis has been found to be 95 percent accurate in identifying a mutation for NF1 and 65 percent accurate for NF2. Genomic sequencing can be used to test for NF1 genetic mutations (CPT® 81408 Molecular pathology procedure, Level 9)
Link Symptoms to Treatment
There is no cure for NF1 or NF2; management of the symptoms is the only option available. Surgery is often used to remove tumors; however, there is a risk of the tumors regenerating. A breakthrough treatment is newly available for NF2 patients who have had parts of their auditory nerve removed and have subsequent hearing loss. A U.S. Food and Drug Administration-approved auditory brainstem implant is available for these individuals to restore hearing.
There are several clinical trials involving NF that offer more in-depth information. A few of these are:
The Neurofobromatosis (NF) Center located at the St. Louis Children’s Hospital (https://nfcenter.wustl.edu/patient-care/participate-in-research/current-clinical-trials/)
Neurofibromatosis Consortium located at the University of Alabama, Birmingham (www.uab.edu/nfconsortium/)
Johns Hopkins Comprehensive Neurofibromatosis Center (https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/neurofibromatosis/patient-information/clinical-trials.html)
Neurofibromatosis. (n.d.) Gale Encyclopedia of Medicine. (2008): https://medical-dictionary.thefreedictionary.com/neurofibromatosis.
Blue Cross Blue Shield Policy. Genetic Testing for Neurofibromatosis:
National Institutes of Health, National Human Genome Research Institute: www.genome.gov/14514225/learning-about-neurofibromatosis/
Neurofibromatosis. (n.d.) Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. (2003): https://medical-dictionary.thefreedictionary.com/neurofibromatosis