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Care of Adults with NF1, a new resource

By July 24, 2018December 18th, 2023Science & Research

Care of Adults with NF1, a new resource, has been published by the American College of Medical Genetics and Genomics (ACMG). It offers voluntary guidelines for medical management based on published reports and the expertise of the authors, who are leaders in NF1 medical care.

We are sharing this news with you as a resource to manage your own care. You can get this article free of charge at Springer Nature: 

The guidelines cover a number of important issues that concern adults with NF, including: the warning signs of MPNST, breast cancer screening, high blood pressure screening, bone health, dermal neurofibromas, pain, pregnancy and birth control, and high blood pressure.

Key take-aways include:

Rapid growth of a plexiform or persistent, increased pain is a warning sign of a possible MPNST (malignant peripheral nerve sheath tumors) that should be communicated to your doctor without delay. Early detection and surgical removal are recommended.

Blood pressure checks are important for adults with NF1. High blood pressure can be a sign of treatable NF1-related conditions such as adrenal gland tumors (pheochromocytomas) which occur in up to 6% of adults with NF1, most often those over 30 years old. Symptoms include episodes of headache, sweating, or a racing heart. Another cause of high blood pressure in people with NF1 is related to changes in blood vessels supplying the kidney, brain, heart, and other organs.

Yearly mammograms starting at age 30 are recommended.

Bone thinning (osteoporosis) starts at younger ages in NF1 than in general. The authors recommend having your doctor monitor your vitamin D levels to be sure they are in the proper range.

Dermal (cutaneous) neurofibromas can be removed by surgery, laser removal, or electrodesiccation. No one method has been shown clearly superior to the others.


SOURCE: Stewart, DR, Korf, BR, Nathanson, KL, Stevenson, DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). 2018; Genetics in Medicine.