Pradipkumar Dabhi, Gautham Arunachal, Gupta Richa, James Prince, Thangakunam Balamugesh, Christopher Devasahayam Jesudas
Department of Pulmonary Medicine, Christian Medical College, Vellore, Tamil Nadu, India.
Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
Lung India. 2017 Sep-Oct;34(5):475-479. doi: 10.4103/0970-2113.213824.
Idiopathic pulmonary fibrosis (IPF), a chronic progressive interstitial lung disease (ILD), Occasionally, IPF occurs in families. Familial interstitial lung disease has been reported worldwide, limited information is available on the disease among Indian patients.
A 59-year-old woman presented with a 2-year history of progressive dyspnoea. Based on clinical and radiological features, our patient was diagnosed with idiopathic pulmonary fibrosis. Several family members of her first and second generations had died from respiratory failure. Her sister also diagnosed as IPF based on typical High resolution computed tomography (HRCT) finding though she was asymptomatic and came for screening. In addition, another male patient also had similar history and diagnosed as familial IPF based on HRCT and genetic testing in spite of significant occupational exposure. Genetic study revealed SFTPA1 gene was associated with susceptibility to idiopathic pulmonary fibrosis.
Our report illustrates that asymptomatic screening of family member can uncover such a serious disease in patients with familial interstitial fibrosis. Otherwise, clinical, radiological, and histological features are indistinguishable from those of sporadic cases. Furthermore, our work highlights the importance of compiling a thorough family history in individuals presenting with cough and dyspnoea, particularly in younger patients identified with idiopathic pulmonary fibrosis.
特发性肺纤维化（IPF）是一种慢性进行性间质性肺疾病（ILD），偶尔会在家族中出现。家族性间质性肺疾病在全球均有报道，但关于印度患者的此类疾病信息有限。
一名59岁女性，有2年进行性呼吸困难病史。根据临床和影像学特征，我们的患者被诊断为特发性肺纤维化。她的第一代和第二代家庭成员中有数人死于呼吸衰竭。她的妹妹虽无症状前来筛查，但基于典型的高分辨率计算机断层扫描（HRCT）结果也被诊断为IPF。此外，另一名男性患者也有类似病史，尽管有显著的职业暴露史，但基于HRCT和基因检测仍被诊断为家族性IPF。基因研究表明，SFTPA1基因与特发性肺纤维化的易感性相关。
我们的报告表明，对家族成员进行无症状筛查可以发现家族性间质性纤维化患者中的这种严重疾病。否则，其临床、影像学和组织学特征与散发性病例无法区分。此外，我们的工作强调了在出现咳嗽和呼吸困难的个体中，尤其是被诊断为特发性肺纤维化的年轻患者中，详细记录家族病史的重要性。
