AI Article Synopsis
- Birt-Hogg-Dubé syndrome is a rare genetic condition that leads to various tumors, particularly affecting the kidneys and lungs, and often results in a significant delay in diagnosis, especially for females.
- Clinical data from 158 patients revealed that females were diagnosed much less frequently in a timely manner compared to males, with a considerable wait time of nearly a decade before diagnosis.
- Awareness and recognition of Birt-Hogg-Dubé syndrome are crucial to improving early diagnosis and reducing the associated health risks for patients and their families.
Article Abstract
Background: Birt-Hogg-Dubé syndrome is a rare genetic tumor syndrome characterized by renal cell cancer, lung bullae, pneumothorax, and fibrofolliculoma. Patients with such orphan tumor disorders are at risk of not receiving a timely diagnosis. In the present, gender-sensitive study, we analyzed the delay between onset of symptoms and diagnosis of Birt-Hogg-Dubé syndrome.
Methods: Clinical data of 158 patients from 91 unrelated families were collected. mutation testing was performed in index patients and family members.
Findings: The occurrence of the first symptom (fibrofolliculoma, pneumothorax or renal cell cancer) was rarely followed by a timely diagnosis of Birt-Hogg-Dubé syndrome and did so significantly less often in female (1.3%) compared to male (11.4%) patients (chi-square 6.83, p-value 0.009). Only 17 out of 39 renal cell cancers (7/17 female, 10/22 male patients) were promptly recognized as a symptom of Birt-Hogg-Dubé syndrome. Patients in which renal cell cancer was initially not recognized as a symptom of Birt-Hogg-Dubé syndrome waited 9.7 years (females SD 9.2, range 1-29) and 8.8 years (males, SD 4.1, range 2-11) for their diagnosis, respectively. Four (three female, one male) patients developed renal cell cancer twice before the genetic tumor syndrome was diagnosed. The delay between fibrofolliculoma or pneumothorax as a first symptom and diagnosis of Birt-Hogg-Dubé syndrome was considerable but not significantly different between females and males (18.1/17.19 versus 16.1/18.92 years). Furthermore, 73 patients were only diagnosed due to family history (delay 15.1 years in females and 17.4 years in males).
Interpretation: The delay between onset of symptoms and diagnosis of Birt-Hogg-Dubé syndrome can be substantial and gender-dependent, causing considerable health risks for patients and their families. It is therefore important to create more awareness of Birt-Hogg-Dubé syndrome and resolve gender biases in diagnostic work-up.
Funding: None declared.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304907 | PMC |
| http://dx.doi.org/10.1016/j.eclinm.2022.101572 | DOI Listing |
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