Other Symptoms

As we learn more about BHD syndrome, we are also learning more about other health issues that run in BHD families. At the moment, it appears that these issues are incidental. That means that they are not related to BHD syndrome and should not be included in the list of known BHD symptoms.

This section mentions some of the most frequently addressed conditions which researchers have claimed to link to BHD syndrome.

Colon polyps and colon cancer

Several articles in medical journals have suggested that (benign) colon polyps and colon cancer are associated with BHD syndrome. Subsequent research in 2002 and 2007 of BHD families found no evidence to support this. However, a more recent study has suggested that there is a link and therefore research is inconclusive at this point. 

Other cancers

It has been proven that people who have certain kinds of primary cancers (a first cancer) may be more prone to get a different type of cancer in the future. This seems to be true of some thyroid and testicular cancer patients. Researchers speculated that genetics may make one person more liable to get a second cancer of a different type than the first. There is not enough data to tell us if this is the case for those with BHD syndrome.

People with BHD syndrome have had the following cancers, and to date, it does not appear that these cancers are caused by the BHD gene mutation. If you have had one of these cancers and have no symptoms of BHD, there is no reason to think that you have BHD syndrome. This list is not exhaustive:

1. Uterine Cancer
2. Squamous Cell Carcinoma (head & neck, and cervix)
3. Thyroid Cancer
4. Colon Cancer
5. Hodgkin’s Disease
6. Breast Cancer
7. Rhabdomyoma (muscle tumour, mostly commonly found in the heart and tongue)
8. Prostate Cancer
9. Adrenal mass
10. Melanoma
11. Leiomyosarcoma (cutaneous)
12. Leiomyoma (cutaneous)
13. Parotid gland oncocytomas (salivary gland) 

Sources

• BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé Syndrome: A new series of 50 families and a review of published reports. Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM. J Med Genet. 2008 Jun;45(6):321-31.

• Birt-Hogg-Dube´ Syndrome: Clinical and Genetic Studies of 20 Families. Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, Jaspars EH, Postmus PE, van Moorselaar RJ, Craanen ME, Starink TM, Menko FH. J Invest Dermatol. 2008 Jan;128(1):45-9.

• Double Resection for Patients with Pancreatic Cancer and a Second Primary Renal Cell Cancer. Alexakis N, Bosonnet L, Connor S, Ellis I, Sutton R, Campbell F, Hughes M, Garvey C, Neoptolemos JP. Dig Surg. 2003;20(5):428-32.

• Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. Nahorski MS, Lim DH, Martin L, Gille JJ, McKay K, Rehal PK, Ploeger HM, van Steensel M, Tomlinson IP, Latif F, Menko FH, Maher ER. J Med Genet. 2010;47(6):385-90.

• Renal Cell Carcinoma Following Testicular Cancer: Case Report and Literature Review. Lawrentschuk N, Gyomber D, Bolton DM. Int Urol Nephrol. 2006;38(1):1-4.

• Risk of Renal and Colonic Neoplasms and Spontaneous Pneumothorax in the Birt-Hogg-Dubé Syndrome. Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, Walther M, Choyke P, Weirich G, Hewitt SM, Duray P, Gabril F, Greenberg C, Merino MJ, Toro J, Linehan WM. Cancer Epidemiol Biomarkers Prev. 2002 Apr;11(4):393-400.

• The Risk of Second Primary Malignancies up to Three Decades after the Treatment of Differentiated Thyroid Cancer. Brown AP, Chen J, Hitchcock YJ, Szabo A, Shrieve DC, Tward JD. J Clin Endocrinol Metab. 2008 Feb;93(2):504-15.