Wllireg for Pacak–Zhuang Syndrome – pro
Evidence of VHLL mutation was not provided. The Pacak-Zhuang syndrome is a recently described disease manifestation in females that includes multiple paragangliomas or pheochromocytomas and somatostatinomas (in some), both neuroendocrine tumors, and secondary polycythemia associated with high erythropoietin levels.Patients with this syndrome usually have early onset of secondary polycythemia, most of them at birth. This syndrome is of special interest as finding more than one type of neuroendocrine tumor in one individual is unusual.Such co-occurrences are usually seen in patients carrying hereditary syndromes like multiple endocrine neoplasia (MEN), neurofibromatosis 1 (NF1), or von Hippel-Lindau (VHL) disease.
Wllireg was reported to produce an improvement in a case report. amihara,Kamhara et al). In that case, The EPAS1 variant that identified. “Precise molecular diagnostic approaches were critical in defining the molecular driver of the syndrome in this patient and for matching her molecular variant to a new therapy that resulted in marked clinical benefits.”
It is not sufficient to establish medical necessity based on a single case report, especially if he claimant’s mutation is not the same as in the that case report, and the mechanism of how Wellireg might work has nto been fully clarified.
Kamihara, Junne; Hamilton, Kayla V.; Pollard, Jessica A.; Clinton, Catherine M.; Madden, Jill A.; Lin, Jasmine; Imamovic, Alma; Wall, Catherine B.; Wassner, Ari J.; Weil, Brent R.; Heeney, Matthew M. (2021-11-25). “Belzutifan, a Potent HIF2 Inhibitor, in the Pacak–Zhuang Syndrome”. New England Journal of Medicine. 385 (22): 2059–2065.
Wllireg Prescribing Information 2023