Von Hippel-Lindau syndrome
ICD-10 Q85.83 is a billable code used to indicate a diagnosis of von hippel-lindau syndrome.
Von Hippel-Lindau (VHL) syndrome is a hereditary condition characterized by the development of various tumors and cysts in multiple organs, including the central nervous system, kidneys, pancreas, and adrenal glands. It is caused by mutations in the VHL gene, which plays a critical role in regulating cell growth and blood vessel formation. Patients with VHL syndrome are at increased risk for hemangioblastomas, renal cell carcinoma, and pheochromocytomas. Congenital malformations associated with VHL may include skin lesions such as angiomatosis, which can present as red or purple spots on the skin. Other rare congenital anomalies may involve the spleen and adrenal glands, leading to functional impairments. The syndrome is often diagnosed in young adulthood, but early manifestations can occur in childhood, necessitating careful monitoring and management of associated conditions. Genetic counseling is recommended for affected families to understand inheritance patterns and implications for offspring.
Pediatric documentation should include growth and developmental assessments, family history, and any early signs of VHL manifestations.
Pediatric patients presenting with unexplained headaches or visual disturbances may require imaging studies to evaluate for hemangioblastomas.
Pediatric coders must be aware of the age-related presentation of symptoms and the need for ongoing surveillance for malignancies.
Genetic documentation must include results from VHL gene testing, family pedigree charts, and counseling notes.
Genetic counseling sessions for families with a history of VHL syndrome to discuss risks and implications for future pregnancies.
Genetic coders should ensure accurate coding of both the syndrome and any associated genetic testing procedures.
Used in conjunction with the diagnosis of VHL syndrome to confirm genetic status.
Documentation of family history and clinical findings supporting the need for genetic testing.
Genetic specialists should ensure that the testing is linked to the clinical diagnosis.
Common manifestations include hemangioblastomas, renal cell carcinoma, pheochromocytomas, and various cysts in organs such as the pancreas and kidneys. Skin lesions may also be present.
