von Hippel-Lindau Disease and Pregnancy

Adekola, Henry; Soto, Eleazar; Lam, Jessica; Bronshtein, Elena; Chaiworapongsa, Tinnakorn; Sorokin, Yoram

doi:10.1097/ogx.0b013e3182a85063

Cited by 11 publications

(4 citation statements)

References 61 publications

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“…The mode of delivery is a discussion of risks and benefits among the multidisciplinary team, and there should be shared decision-making based on the patient's clinical condition and preferences, for example, the presence or absence of intracranial tumors, raised intracranial pressure, and pheochromocytoma [3]. The most common causes of death are complications associated with RCC and central nervous system hemangioblastomas [4].…”

Section: Discussionmentioning

confidence: 99%

Anesthetic Challenge in a Parturient With Von Hippel-Lindau Disease

Lye,

Au Yong

2023

Cureus

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Von Hippel-Lindau (VHL) syndrome is a rare autosomal dominant disease with incomplete penetrance and variable expression. The features of cerebellar and spinal tumors, pheochromocytomas, and increased intracranial pressure complicate the anesthetic management of such patients. This report describes the anesthetic management of a parturient with VHL disease and highlights the importance of proper surveillance, vigilant management, and individualized treatment plans from a multidisciplinary team.

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Section: Discussionmentioning

confidence: 99%

Anesthetic Challenge in a Parturient With Von Hippel-Lindau Disease

Lye,

Au Yong

2023

Cureus

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“…71 If a familial mutation is known, PGT-M and prenatal diagnosis, including CVS or amniocentesis, are available. 72 In the absence of a known mutation, given the lack of certainty, consultation with a reproductive geneticist is recommended, as gene panels are available but need to be interpreted with caution. 73 Counseling regarding maternal and fetal outcomes should be reviewed.…”

Section: Preconceptionmentioning

confidence: 99%

“…Ideally, surgical removal of pheochromocytomas should be performed before conception 71 . If a familial mutation is known, PGT-M and prenatal diagnosis, including CVS or amniocentesis, are available 72 . In the absence of a known mutation, given the lack of certainty, consultation with a reproductive geneticist is recommended, as gene panels are available but need to be interpreted with caution 73 …”

Section: Von Hippel–lindau Syndromementioning

confidence: 99%

“…Counseling regarding maternal and fetal outcomes should be reviewed. Reported maternal morbidity is mainly related to growth and hypertensive complications, although small studies suggest an overall favorable outcome 72,74 . A French registry survey reported a 96.4% survival rate for fetuses of pregnancies complicated by VHL disease 74 …”

Section: Von Hippel–lindau Syndromementioning

confidence: 99%

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Neurocutaneous Disorders in Pregnancy

Idler,

Turkoglu,

Patek

et al. 2023

Obstetrical &Amp; Gynecological Survey

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Importance Neurocutaneous disorders have significant implications for care of the pregnant patient. As neurocutaneous disorders are uncommon, obstetricians may be unfamiliar with these disorders and with recommendations for appropriate care of this population. Objective This review aims to summarize existing literature on the interaction between neurocutaneous disorders and pregnancy and to provide a guide for physicians caring for an affected patient. Evidence Acquisition A PubMed, MEDLINE, and Google Scholar search was carried out with a broad range of combinations of the medical subject headings (MeSH) terms “pregnancy,” “Sturge -Weber,” “Neurofibromatosis Type 1,” “neurofibromatosis type 2,” “von Hippel Lindau,” “Tuberous Sclerosis,” “neurocutaneous disorder,” “treatment,” “congenital malformations,” “neurodevelopmental defects,” “miscarriage,” “breastfeeding,” “autoimmune,” “pathophysiology,” and “management.” References of included articles were searched to identify any articles that may have been missed after the above method was used. Results Neurocutaneous disorders are associated with increased pregnancy-associated maternal and fetal/neonatal morbidity, largely surrounding hypertensive disorders, epilepsy, and medication exposure. Some features of neurocutaneous disorders may be worsened or accelerated by pregnancy. Neurocutaneous disorders can often be diagnosed prenatally. Therefore, directed assessment should be offered to affected individuals with a personal or family history of a neurocutaneous disorder. Conclusion and Relevance Patients affected by neurocutaneous disorders who are pregnant or planning for future pregnancy should be carefully followed by a multidisciplinary team, which could include maternal-fetal medicine, neurology, and anesthesia, as well as other relevant subspecialists. Additional research is required regarding optimal counseling and management of these patients. Target Audience Obstetricians and gynecologists, family physician. Learning objectives After completing this activity, the learner will be better able to identify the most common neurocutaneous disorders seen in reproductive women and their implications in pregnancy; propose recommendations for genetic evaluation, diagnosis, management, and a differential diagnosis; describe treatment options including labor and delivery management, emphasizing multidisciplinary approach; and discuss potential maternal and fetal adverse outcomes related to neurocutaneous disorders.

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