When should I consider referring a patient with Neurofibromatosis for specialist assessment or management?

Guideline-aligned answer with reasoning, red flags and references. Clinically reviewed by Dr Kola Tytler MBBS CertHE MBA MRCGP.

Posted: 22 August 2025 Guideline-Aligned (High Confidence) Clinically Reviewed
Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX

Consider referring a patient with neurofibromatosis for specialist assessment or management if they present with complications or symptoms suggestive of malignancy or other serious conditions requiring specialist input.

Although the provided guidelines do not specifically address neurofibromatosis referral criteria, general principles for referral to specialist care include the presence of symptoms such as unexplained lymphadenopathy, splenomegaly, weight loss, or pruritus, which may indicate malignancies like lymphoma and warrant urgent specialist assessment within 48 hours.

Therefore, in patients with neurofibromatosis, referral should be considered if there are signs of tumour progression, neurological symptoms, suspicion of malignant peripheral nerve sheath tumours, or other complications that require multidisciplinary specialist management.

In the absence of specific UK guideline criteria for neurofibromatosis referral in the provided context, clinical judgement should guide referral based on symptom severity, tumour burden, and risk of malignancy.

Educational content only. Always verify information and use clinical judgement.