In the past decade, advances in medical knowledge have led to changes for those affected by the Birt-Hogg-Dubé syndrome. The BHD gene has been identified; it is called folliculin, and the official symbol for the gene is FLCN.

DNA / gene tests are now available for those who think they may have the syndrome, and to test additional family members in which the altered gene has already been identified. If you know of a laboratory outside the United States that is conducting gene tests, we would appreciate having this information to add to our database, please send information to info@birthoggdube.org

Of the treatments available for the skin, the lungs, and the kidneys, there have perhaps been the most changes in the options for preserving the kidneys. Surgery is still the ‘gold standard ‘ for treatment, but newer techniques mean that less invasive, nephron-sparing (kidney sparing) surgeries are more widely available.

It is important to consider your overall health when you or a family member is diagnosed with a hereditary syndrome. Not only nutritional health, but also emotional, social and psychological health should be a priority. It may be helpful to see a genetic counselor who is trained to help families deal with issues related to diagnoses like Birt-Hogg-Dubé.

Because genetic discrimination in issues like health or life insurance may affect BHD families in different parts of the world, it is recommended that you familiarize yourself with your local laws and national options before having a DNA/gene test to see if you have the Birt-Hogg-Dubé syndrome.

Ongoing research into the mechanisms of the Birt-Hogg-Dubé syndrome and the FLCN gene may lead to the development of medicinal treatments for some BHD symptoms.

Have any outsanding questions or issues? Why not post on our forum for some advice?

Information Pamphlets

An introduction to BHD Syndrome, it’s diagnosis and further information regarding the symptoms and treatment of skin and lung symptoms can be downloaded and printed for your use. You may find these useful if you or someone in your family is affected by BHD Syndrome.

They are available in two formats: Tri-Fold Pamphlet (print on both sides of A4 and fold along the dotted lines) or Single Pamphlet (print on one side of A4)

Single Pamphlets:

BHD Syndrome – Diagnosis Information

BHD Syndrome – Lung Symptoms & Treatment

BHD Syndrome – Skin Symptoms & Treatment

BHD Syndrome – Information for Clinicians: a good starting point for clinicians new to BHD Syndrome, or you might want to print this off and give it to your family doctor.

Tri-Fold Pamphlets:

BHD Syndrome – Diagnosis Information

BHD Syndrome – Lung Symptoms & Treatment

BHD Syndrome – Skin Symptoms & Treatment

Sources

• Genetics Home Reference: Folliculin Gene (FLCN)
• General and Scientific Information on BHD