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Continuation of pegvaliase treatment during pregnancy: A case report.

ABSTRACT: Phenylalanine hydroxylase (PAH) deficiency is an inborn error of phenylalanine (Phe) metabolism that results in the buildup of dietary Phe to potentially toxic levels. Poorly controlled Phe levels in women of childbearing age are particularly worrisome due to the toxic effect of elevated Phe on fetal development. Pegvaliase was recently approved as an enzyme substitution therapy to reduce Phe concentrations in adult patients with PAH deficiency who have suboptimal Phe control on existing management. During the pegvaliase clinical trials pregnant patients were excluded from participation, but the approved label does not contraindicate its use during pregnancy. This case report describes the outcome of the first PAH deficient patient who elected to continue treatment with pegvaliase during pregnancy and reviews the lessons learned and future considerations.

SUBMITTER: Boyer M

PROVIDER: S-EPMC7847948 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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Continuation of pegvaliase treatment during pregnancy: A case report.

Boyer Monica M Skaar Janette J Sowa Mary M Tureson Justin R JR Chapel-Crespo Cristel C CC Chang Richard R

Molecular genetics and metabolism reports 20210127

Phenylalanine hydroxylase (PAH) deficiency is an inborn error of phenylalanine (Phe) metabolism that results in the buildup of dietary Phe to potentially toxic levels. Poorly controlled Phe levels in women of childbearing age are particularly worrisome due to the toxic effect of elevated Phe on fetal development. Pegvaliase was recently approved as an enzyme substitution therapy to reduce Phe concentrations in adult patients with PAH deficiency who have suboptimal Phe control on existing managem ...[more]

PMID: 33552907

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Project description:BackgroundNipple adenoma is a very uncommon, benign neoplasm that involves the nipple. A palpable mass of the nipple associated with nipple discharge and erosion or ulceration is the common clinical presentation. Generally, complete surgical excision of the nipple is the main treatment, alternative therapeutic methods such as Mohs micrographic surgery, nipple splitting enucleation, and cryotherapy can be considered. Disorders of the breast in young women are generally benign. Even if the management during pregnancy is usually conservative and surgical excision is reserved for very strong malignancy suspicion, benign lesions can cause the impossibility to breastfeed after giving birth when involving the nipple.Case presentationWe present the case of a 28-year-old female, who was referred to the Breast Unit of the University Hospital of Modena (Italy) in May 2020 with a 12-months history of enlargement of the left nipple with associated erythema, serohemorrhagic discharge, and pain in the left nipple region. The diagnostic assessment came out in favor of a nipple adenoma. After surgical treatment was recommended, the patient got pregnant. Taking into account the major risks of surgery during pregnancy, a multidisciplinary discussion was conducted, to consider whether to proceed with surgery or postpone it after pregnancy. Because of the volume and the position of the adenoma, the indication for surgical excision was confirmed, to allow regular lactation and breastfeeding immediately after giving birth and to avoid potential obstructive complications. Surgical excision of nipple adenoma without complete resection of the nipple was performed after her first trimester of pregnancy under local anesthesia. A histopathological examination confirmed the diagnosis. No recurrence occurred after 12 months. The patient gave birth, had no deficit in lactation, and successfully breastfed.ConclusionsTherefore, we consider that nipple adenoma enucleation might be a safe treatment even during pregnancy. Moreover, conservative local treatment of nipple adenomas can preserve the nipple aesthetically and functionally, thus allowing regular lactation and breastfeeding in young women.

Dataset Information

Continuation of pegvaliase treatment during pregnancy: A case report.

Publications

Continuation of pegvaliase treatment during pregnancy: A case report.

Similar Datasets

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