5 doctors weighed in:
I have a genetics question about von hippel-lindau disease?
5 doctors weighed in

Dr. Michael Fisher
Dermatology
2 doctors agree
In brief: Von Hippel-Lindau
Von hippel-lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body.
Tumors may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von hippel-lindau syndrome can occur throughout life.

In brief: Von Hippel-Lindau
Von hippel-lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body.
Tumors may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von hippel-lindau syndrome can occur throughout life.
Dr. Michael Fisher
Dr. Michael Fisher
Thank
Dr. George Klauber
Pediatrics - Urology
In brief: Autosomal dominant
U didn't state vhl genetics question.
Offspring of individual with vhl have 50% risk of inheriting vhl disease-causing mutation. 50% of offspring of a vhl parent will inherit vhl. However, 20% of vhl patients have disease as result of de novo mutation. Meaning that vhl gene mutated spontaneously without inheriting it. Prenatal pregnancy testing for gene mutation possible if family member has vhl.

In brief: Autosomal dominant
U didn't state vhl genetics question.
Offspring of individual with vhl have 50% risk of inheriting vhl disease-causing mutation. 50% of offspring of a vhl parent will inherit vhl. However, 20% of vhl patients have disease as result of de novo mutation. Meaning that vhl gene mutated spontaneously without inheriting it. Prenatal pregnancy testing for gene mutation possible if family member has vhl.
Dr. George Klauber
Dr. George Klauber
Thank
Dr. Maulik Shah
Clinical Genetics
In brief: Refer for testing
A number of companies offer genetic testing as well as counseling services.
I often use guidepointlabs for this purpose. It is often easier to have the patient talk to a counselor before determining if testing is mandated or necessary. Given that this is a cancer predisposition syndrome, early diagnosis and testing is important.

In brief: Refer for testing
A number of companies offer genetic testing as well as counseling services.
I often use guidepointlabs for this purpose. It is often easier to have the patient talk to a counselor before determining if testing is mandated or necessary. Given that this is a cancer predisposition syndrome, early diagnosis and testing is important.
Dr. Maulik Shah
Dr. Maulik Shah
Thank
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