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What is Von Hippel-Landau Disease?

a blog by Reproductive Medicine Institute- Chicago, October 1, 2013

Towards a Healthy Future: Pre-conception Genetic Testing in Chicago

A recently married young couple came to see us last year for an Infertility consult with concerns regarding Von Hippel-Lindau (VHL) disease, a rare autosomal dominant genetic disorder. Her husband was diagnosed since early childhood with VHL (inherited from his father who was affected with the same genetic mutations as him). The couple was concerned and trying to find out if In Vitro Fertilization (IVF) combined with Preimplantation Genetic Diagnosis (PGD), could give them solace and surety of a child without VHL syndrome. Our combined objective was to obtain and select a healthy embryo for transfer into her uterus without the VHL mutation which her husband was carrying.

Von Hippel-Landau Disease

Von Hippel-Landau disease is a rare, autosomal dominant genetic condition that predisposes individuals to benign and malignant tumors. As VHL is a dominant mutation, only one copy of the gene is needed in order to increase the risk of developing tumors and cysts. Mutations in the VHL gene cause Von Hippel syndrome. The VHL gene is a tumor-suppressive gene which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the VHL gene are located on the short arm of chromosome 3. Most people with Von Hippel syndrome inherit an altered copy of the gene from one of the other affected parent. In about 20% of the cases, however, the altered gene is the result of a new mutation that occurred during the formation of reproductive cells (eggs or sperm) or very early in development. In order to confirm on a molecular level that an individual has Von Hippel-Lindau syndrome, he or she can undergo genetic testing. This includes blood tests obtained from the VHL affected individual for DNA isolation and presence of two normal copies of VHL gene. If an alteration in any one VHL gene copy is identified, genetic counseling is provided for further assessment of other at risk family members. If a mutation responsible for Von Hippel-Lindau syndrome is identified, family members’ at-risk relatives (first or second degree relatives) can be tested for the same genetic alteration. Most of the individuals with a mutated VHL gene will develop symptoms of Von Hippel-Lindau syndrome in older years.

Protecting the Next Generation

Our couple went through IVF with PGD. Twenty-one eggs were retrieved and 16 eggs fertilized, resulting in 16 embryos which were then tested for VHL disease. All the embryos were biopsied by removing a single blastomere(cell) from each of the embryos. Out of 16 embryos biopsied, 6 were affected with the VHL mutation. The rest of them were normal embryos. Two day five embryos were transferred resulting a in a singleton pregnancy. Today, our couple are the proud parents of a healthy one year old boy, delivered by C-section. They are currently undergoing a embryo transfer one of the previously frozen embryos for a second child.

It's Not Just for Infertility Anymore

In Vitro Fertilization with Preimplantation Genetic Diagnosis has extended its reach over the years, now allowing individuals and couples to help protect the next generation from inherited illness, regardless of how obscure the disease may be.

Nasir Rana, M.D., has devoted more than 30 years of his professional life to academic medicine and the clinical practice Reproductive Health Care for Women. Dr. Rana is one of the Founding Partners of Reproductive Medicine Institute. He is board certified in both Reproductive Endocrinology and Infertility (REI) and Obstetrics and Gynecology (OB/GYN). He also holds a Master’s Degree in Public Health (MPH) with emphasis on Women’s Health Care.

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