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At least 19 recordsLinked to original sources
PubMed2006

Polyarthritis and familial pulmonary fibrosis in a child.

A 7-year-old girl presented with seropositive polyarthritis, autoimmune thyroiditis, and pulmonary fibrosis. Several family members had complex autoimmune disorders and pulmonary fibrosis, and the pedigree was consistent with autosomal dominant inheritance. The possible links between polyarthritis and familial pulmonary fibrosis are discussed, as well as the therapeutic challenges raised by this extraordinarily rare combination.

Anti-Inflammatory Agents↗
PubMed2004

Adult-onset familial pulmonary fibrosis in Japanese brothers.

Two Japanese brothers were diagnosed in their 20s with familial pulmonary fibrosis, the pathological findings of which were consistent with usual interstitial pneumonia (UIP). However, an atypical characteristic was observed in the lungs of these brothers; 2-mm areas of 'honeycomb' were identified throughout the lungs, which is smaller than the generally observed 5-10 mm honeycombing seen in UIP. Fibroblastic foci were demonstrated in the second eldest brother, but not in the eldest, which indicates that the lungs of the eldest brother was in a more advanced stage of fibrosis. Their youngest brother and parents have no clinical evidence of pulmonary fibrosis. All five family members had low values for the diffusion capacity of the lung for carbon monoxide (DLCO), suggesting the presence of an inheritable disease and the existence of different phenotypes. The genomic DNA of the affected brothers was sequenced for the reported surfactant protein C (SP-C) gene mutations in patients with familial pulmonary fibrosis, but none was documented. It is necessary to clarify the presence of novel gene mutations of SP-C or other genes to explain these particular pathological findings and the low DLCO observed in this family.

Adult↗
PubMed2026

Familial pulmonary fibrosis: a UK consensus framework for the investigation and management of patients and their relatives.

Background: There is a growing recognition that genetic predisposition contributes to the development of fibrotic interstitial lung disease. Adult onset monogenic disease is most commonly due to dysfunctional telomere maintenance, with a small proportion caused by surfactant biology disorders. These conditions can be associated with additional intrapulmonary and extrapulmonary features which themselves may require surveillance or treatment, making it important to make a genetic diagnosis. The recent introduction in England of a genetic testing panel accessible to respiratory physicians means that genetic information for these individuals is increasingly available but there is currently little standardisation of the subsequent management of patients and their relatives, which can be complex.Aims: This consensus considers the causes and clinical features of familial pulmonary fibrosis and provides a suggested framework for genetic investigation and clinical management of both patients and their relatives.Narrative: We suggest an initial workup that may help identify those with monogenic disease, with focus on key points in the history and examination that may identify features of a telomere or surfactant biology disorder. We highlight that clinical and radiological presentations are diverse and discuss the importance of making a genetic diagnosis to inform multidisciplinary management and facilitate screening of close family members. We also discuss the many outstanding uncertainties and challenges, including the investigation and management of non-monogenic familial pulmonary fibrosis and the management of asymptomatic family members who have inherited a potentially disease-causing genetic variant.Conclusions: We suggest a pathway for the workup and management of patients with familial pulmonary fibrosis, aiming to standardise clinical care for patients and their relatives and provide a framework for the development of a national database to facilitate disease phenotyping and clinical research to improve the evidence base for clinical practice.

Lung Diseases, Interstitial↗
PubMed2026

Donor selection in living-donor lung transplantation for familial pulmonary fibrosis: A narrative review and single-center practical approach.

In Japan, living-donor lobar lung transplantation (LDLLT) remains an important therapeutic option because of the persistent shortage of brain-dead donors. Interstitial lung diseases (ILDs) are a major indication for transplantation; however, the use of biologically related donors raises concerns regarding shared genetic susceptibility. Approximately 20% of ILD patients have a family history of ILD, referred to as familial pulmonary fibrosis (FPF). FPF is defined as fibrotic ILD occurring in at least two first- or second-degree relatives and is associated with poor prognosis regardless of the presence of identifiable genetic variants. Furthermore, interstitial lung abnormalities have been reported in 14-22% of first-degree relatives of patients with FPF, suggesting a substantial latent risk of disease development both in donors and recipients. These findings have important implications for donor selection in LDLLT. At Kyoto University Hospital, first-degree relatives from affected lineages are generally excluded as donor candidates, whereas relatives from unaffected family branches may be considered after careful individual assessment. Even in cases without a family history, biologically related donor candidates should be adequately informed of the potential future risk of ILD. Future directions include the incorporation of genetic testing and telomere length assessment and the establishment of prospective cohorts to enable risk stratification and long-term outcome evaluation. In conclusion, the selection of donors for LDLLT in patients with FPF requires a cautious and individualized approach that integrates family history, clinical evaluation, and genetic information to balance donor safety with access to transplantation.

Humans↗
PubMed1976

Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome.

A family was studied in which four siblings had oculocutaneous albinism. In three of these a platelet function defect characterized by poor response to collagen was found. The fourth had previously died from cryptogenic fibrosing alveolitis. Two of the survivors had cryptogenic fibrosing alveolitis and the third had physiological lung function disturbance. Bone marrow examination of one showed pigment laden macrophages (Hermansky-Pudlak Syndrome). Three other normally pigmented family members were found to have normal platelets and no evidence of cryptogenic fibrosing alveolitis, although one had pulmonary disease attributable to occupational dust exposure. To elucidate the aetiological factors involved, three unrelated normally pigmented patients with known platelet function defect were studied. One proved to have cryptogenic fibrosing alveolitis. Four unrelated albinos were also studied and had normal lungs and platelets. It is suggested that, in addition to the known association between platelet function defect and albinism, there is an association between a platelet function defect and cryptogenic fibrosing alveolitis.

Adenosine Diphosphate↗
PubMed2004

Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis.

Nonspecific interstitial pneumonia, a recently described form of idiopathic interstitial pneumonia, is characterized by uniform involvement of the alveolar septae with interstitial inflammation and variable amounts of fibrosis. Histological observations differentiate nonspecific interstitial pneumonia from usual interstitial pneumonia and clinically, patients with a nonspecific interstitial pneumonia pattern show better prognosis than those with usual interstitial pneumonia. We have genetically analyzed a family with a history of usual interstitial pneumonia. Most of the patients presented as adults and their biopsies showed a pattern consistent with usual interstitial pneumonia. However, three family members presented in early childhood and their biopsies revealed a nonspecific interstitial pneumonia pattern. The inheritance pattern of usual interstitial pneumonia is consistent with autosomal dominant inheritance with variable expression. DNA sequence analyses of the surfactant protein C gene in children with nonspecific interstitial pneumonia and adults with usual interstitial pneumonia exhibit a common heterozygous mutation located in exon 5. The mutation causes a Leu188 to Gln188 change in the carboxy-terminal region of prosurfactant protein C, possibly affecting peptide processing. These observations suggest that individuals with this particular mutation in surfactant protein C gene might be at increased risk of interstitial lung disease of variety of types.

Adolescent↗
PubMed1985

[Diffuse familial interstitial pulmonary fibrosis. Study of a family].

A study of the genealogy of a 53 year old lady (A.M...) suffering from diffuse interstitial pulmonary fibrosis (FID) has revealed several cases of FID in her forbears and relations. Two brothers of A.M... died of histologically proven FID; FID was also discovered in one of their daughters. A sister died young of some unclassified respiratory problem. Two cousins died likewise at a young age of acute FID proven histologically. The level of spontaneous pneumothorax was particularly elevated in this family which represented a clinical peculiarity when compared to sporadic FID. The most probable mode of transmission of familial FID is autosomal dominant with variable penetrance. The HLA group seen in A.M... showed the A2 and B12 alleles. The B12 allele was also present in the niece of A.M...

Bronchi↗
PubMed1996

alpha 1-antitrypsin deficiency and idiopathic pulmonary fibrosis in a family.

Idiopathic pulmonary fibrosis (IPF) is an interstitial lung disease of unknown etiology with an estimated prevalence of 3 to 5 per 100,000. We describe a patient with a family history of both IPF and alpha 1-antitrypsin (AAT) deficiency. The patient had a 6-month history of worsening dyspnea when first seen, and he later died of multisystem organ failure and recalcitrant hypoxemia. He had IPF and AAT deficiency, with the phenotype PiSZ. His father and younger brother died of respiratory failure due to IPF. Other family members are heterozygous for AAT deficiency. A variety of inflammatory diseases have been associated with AAT deficiency, and an association between heterozygous AAT deficiency and IPF has been reported in the literature. Most current theories on the pathogenesis of IPF suggest an aberrant inflammatory response to some stimulus. This family cluster and another reported in the literature suggest that AAT deficiency may be a factor predisposing to inflammatory lung disease manifested by interstitial fibrosis.

Adult↗
PubMed2002

Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland.

BACKGROUND: The prevalence of sporadic and familial idiopathic pulmonary fibrosis (IPF) cases in Finland was evaluated according to the revised recommendations of the American Thoracic Society. METHODS: All Finnish pulmonary clinics (n=29) were included in the primary screening. Hospital data bases were used to identify patients with the diagnosis "alveolitis fibroticans idiopathica" (J84.1 in ICD-10 classification). The total number of patients with IPF was extrapolated based on the evaluation of random samples of case records in different centres. Families with more than one potentially affected member were identified from a questionnaire study and the diagnosis was verified from the medical records. RESULTS: Using this approach, the nationwide prevalence of IPF in Finland was estimated to be 16-18/100 000. In 90% of the patients lung involvement was assessed by high resolution computed tomographic (HRCT) scanning and in 31% a surgical biopsy specimen was available, further confirming the diagnosis. Seventeen multiplex families with 2-5 affected family members were identified, giving a prevalence of 5.9/million for familial IPF in Finland. Both multiplex and sporadic families were clustered in Eastern Finland. This clustering reflects the demographic history of Finland in the 16th century and suggests that multiplex families may share a common ancestor in the last 20-25 generations. CONCLUSION: The familial form explained 3.3-3.7% of all Finnish cases of IPF diagnosed according to the revised international guidelines. Geographical clustering of multiplex families suggests a recent founder effect in patients with familial IPF.

Aged↗
PubMed1993

[A rare occurrence of familial idiopathic pulmonary fibrosis].

The author describes rare familial incidence of idiopathic pulmonary fibrosis. The disease occurred and was the cause of death in all three children under five years--the patient's daughters. The patient contracted the disease at the age of 59 years. When modern treatment is used, the course of the disease is so far favourable. The author discusses aetiopathogenetic and hereditary aspects of idiopathic pulmonary fibrosis. He reminds of contemporary possibilities of diagnosis of this rare but very serious pulmonary disease.

Child, Preschool↗
PubMed2005

Familial idiopathic pulmonary fibrosis: clinical features and outcome.

STUDY OBJECTIVES: Familial idiopathic pulmonary fibrosis (FIPF) has been defined as idiopathic pulmonary fibrosis (IPF) occurring in two or more members of a family. The clinical course of FIPF has not been fully defined. Accordingly, the current study was undertaken to establish clinical, radiologic, and histologic features, and survival in a consecutive series of patients with FIPF. DESIGN: Retrospective analysis of clinical, radiologic, and pathologic data from a consecutive series of patients with FIPF who were seen at Mayo Medical Center. Survival in patients with FIPF was contrasted to that of previously characterized patients with nonfamilial IPF who were evaluated at our institution. SETTING: Tertiary referral medical center. PATIENTS: We screened 47 patients and family members with FIPF from 15 families who were identified between the years 1992 and 2002. We further analyzed the subgroup of FIPF patients that was composed of 27 patients from 15 families in whom the complete clinical course was monitored at our institution. MEASUREMENTS: All patients exhibited clinical features that were compatible with IPF and either compatible high-resolution CT (HRCT) scan findings or histologic evidence of usual interstitial pneumonia. Clinical data, including symptoms, physical findings, HRCT scan findings, lung function test results, biopsy results, and survival were abstracted from the clinical records. RESULTS: Compared to patients with nonfamilial IPF, patients with FIPF did not demonstrate any notable differences in clinical, radiologic, or pathologic features. We observed that the total number of affected members in a family with FIPF was a significant risk factor for earlier mortality (p = 0.0157; hazard ratio, 1.434). Overall, however, patients with FIPF had a statistically similar outcome to those patients with nonfamilial IPF. CONCLUSIONS: Although uncommon, FIPF represents a distinct syndrome, which has clinical features and patient survival rates that are similar to those of nonfamilial IPF.

Adult↗
PubMed1986

Familial idiopathic pulmonary fibrosis. Evidence of lung inflammation in unaffected family members.

We evaluated 17 clinically unaffected members of three families with an autosomal dominant form of idiopathic pulmonary fibrosis for evidence of alveolar inflammation. Each person in the study was examined by gallium-67 scanning for a general estimate of pulmonary inflammation, and by bronchoalveolar lavage for characterization of the types of recovered cells and their state of activation. Eight of the 17 subjects had evidence of alveolar inflammation on the lavage studies. Supporting data included increased numbers of neutrophils and activated macrophages that released one or more neutrophil chemoattractants, and growth factors for lung fibroblasts--findings similar to those observed in patients with overt idiopathic pulmonary fibrosis. Four of these eight also had a positive gallium scan; in all the other clinically unaffected subjects the scan was normal. During a follow-up of two to four years in seven of the eight subjects who had evidence of inflammation, no clinical evidence of pulmonary fibrosis has appeared. These results indicate that alveolar inflammation occurs in approximately half the clinically unaffected family members at risk of inheriting autosomal dominant idiopathic pulmonary fibrosis. Whether these persons with evidence of pulmonary inflammation but no fibrosis will proceed to have clinically evident pulmonary fibrosis is not yet known.

Adult↗
PubMed2006

ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis.

We performed a genomewide scan in six multiplex families with familial idiopathic pulmonary fibrosis (IPF) who originated from southeastern Finland. The majority of the Finnish multiplex families were clustered in the region, and the population history suggested that the clustering might be explained by an ancestor shared among the patients. The genomewide scan identified five loci of interest. The hierarchical fine mapping in an extended data set with 24 families originating from the same geographic region revealed a shared 110 kb to 13 Mb haplotype on chromosome 4q31, which was significantly more frequent among the patients than in population-based controls (odds ratio 6.3; 95% CI 2.5-15.9; P = .0001). The shared haplotype harbored two functionally uncharacterized genes, ELMOD2 and LOC152586, of which only ELMOD2 was expressed in lung and showed significantly decreased messenger-RNA expression in IPF lung (n = 6) when compared with that of healthy lung (n = 7; P = .05). Our results suggest ELMOD2 as a novel candidate gene for susceptibility in familial IPF.

Chromosomes, Human, Pair 4↗