Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China

Abstract

Background Diagnosis of rare diseases remains a challenge in China. We describe our experience with Birt-Hogg-Dubé syndrome (BHDS) encountered at a Rare Lung Disease Clinic recently established in China. Methods After the first patient with BHDS was recognized in 2017, a Rare Lung Disease Clinic with a multidisciplinary team of specialists was established. We retrospectively analyzed the data of consecutive patients with BHDS encountered from inception to December 2021. Results There were 1, 1, 15, 12 and 21 cases with BHDS diagnosed from year 2017 to 2021, respectively. All 50 patients (34 women) were of Han race with a mean age of 47.4 years. The common manifestations were pulmonary cysts (98%), pneumothorax (54%) and skin lesions (68%). Renal cancer was detected in two patients and renal angiomyolipoma in four other patients. The main presentations leading to diagnosis were pneumothorax (42%), family screening (36%), and lung cysts identified on radiologic imaging (20%). The average delay in diagnosis was 8.3 years, and 4.7 years in patients with only pulmonary cysts. The most frequent pathogenic variant was c.1285del/dup on exon 11 (23%) among 44 patients confirmed by genetic testing. Renal cancer has not been found on follow-up surveillance thus far. Conclusions Increasing number of patients with BHDS are being recognized in China, facilitated by establishment of a Rare Lung Disease Clinic. Pulmonary cysts and pneumothorax were commonly encountered features, but skin lesions appeared to be more prevalent in Chinese subjects than previously reported in other Asian countries.

A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dubé syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report

“…[1,3,5] In fact, many studies have shown that the prevalence of skin lesions in Asian BHD syndrome patients is less than half, even if skin lesions occur, it does not cause particular concern to patients or clinicians. [6,8,12] In this study, we did observe skin changes in the patient, which yet were histologically normal. Nevertheless, we still can not rule out the potential influence of the sampling sites on the final pathology results.…”

“…Compared to skin lesions, pulmonary cysts are found to be more frequent in Asian BHD syndrome patients. [6,8,12] BHD syndrome-related pulmonary cysts are usually thin-walled, irregular-shaped and unevenly distributed in both lungs, especially in the lower lobe and near the mediastinum. [15] Pulmonary cysts may not cause noticeable respiratory symptoms until cysts rupture and pneumothorax happen at the advanced stage.…”

“…[3,[7][8][9][10][11] Pulmonary cyst is one of the main clinical manifestations of BHD syndrome and more commonly seen in Asian BHD syndrome patients than Caucasians, with an incidence of over 90% reported in Chinese and Japanese. [3,6,8,12] Young BHD syndrome patients with pulmonary cysts may not have obvious symptoms, but when they reach the middle age, pulmonary cysts tend to rupture, resulting in spontaneous pneumothorax with high recurrence rate. [3,13,14] In general, BHD syndrome patients with pneumothorax always complain of chest pain, dyspnea, cough and rapid breathing and heartbeat, and chest images can easily help to find pneumothorax.…”

Correction to: Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China

“…The authors of the original article [ 1 ] would like to clarify that the official name and address for affiliation 1 is the following:…”

Two cases of Birt-Hogg-Dubé syndrome combined with congenital contractural arachnodactyly

“…In China, the average delay from first onset to final diagnosis is 10 years because of the high rate of misdiagnosis of the disease ( 2 ). Computed tomography (CT) is an important method for diagnosing BHD, and familiarity with the chest CT features of the syndrome can shorten the time to diagnosis ( 3 ). However, the mechanism of pulmonary cyst formation in BHD has yet to be fully elucidated.…”