Diffuse Lung Disease |

Close Family Ties: Familial Interstitial Lung Disease Secondary to Familial Juvenile Idiopathic Arthritis FREE TO VIEW

Charo Francisco*, MD
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Philippine Heart Center, Quezon City, Philippines

Chest. 2012;142(4_MeetingAbstracts):458A. doi:10.1378/chest.1389005
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SESSION TYPE: ILD Global Case Report Posters

PRESENTED ON: Tuesday, October 23, 2012 at 01:30 PM - 02:30 PM

INTRODUCTION: Interstitial lung disease (ILD) includes a large, heterogeneous group of mostly rare pulmonary conditions that cause derangements of the alveolar walls and loss of functional alveolar capillary units, consisting of both known and unknown causes that share common histological features. It is influenced by several factors such as host susceptibility, genetics and environmental aspects. Familial ILD is identified by verifying in two or more members of the same family. In 1907, Sandoz described the first case of familial ILD in an 18 year old twin sister. Familial cases account for 0.5-2% that occurs as an autosomal dominant disorder with variable penetrance. Juvenile idiopathic arthritis (JIA) is the most well known condition with arthritis in children. Lung involvement is rare. Only 2 cases of familial JIA causing fibrosing alveolitis were described: a case of an identical twin sister and Hilton in 1974, presented a family which involves the father and six of his children. In view of the rarity of this familial association, searching for the known etiology is a must, to prevent underreported and misdiagnosed cases.

CASE PRESENTATION: This is a case of an 8 years old girl manifested with polyarthritis and respiratory distress at 2 years and 2 months old. Initially diagnosed as miliary tuberculosis, workups done such as chest CT scan showed interstitial lung disease and open lung biopsy revealed fibrosing alveolitis. RF factor was increased, and antidsDNA was equivocal. Patient had family history of death of unknown cause on the maternal side. Her eldest sister presented with difficulty of breathing and died at 1 year and 3 months old of unknown diagnosis. Her younger sibling was diagnosed with SLE with overlapping JIA at 3 years old and a year after noted with difficulty of breathing, chest CT scan done revealed ILD. Presently, patient is maintained on oxygen support at 6lpm, her medications are prednisone and sildenafil due to pulmonary artery hypertension and recently diagnosed with cor pulmonale and started on lanoxin.

DISCUSSION: Kindred of children with systemic disorders causing familial type of ILD has been identified. Connective tissue disease causing ILD is common in adult populations, but rarely in children. Etiology of JIA remains indefinable. JIA-affected sibling pairs also had a higher prevalence of acquiring other autoimmune disorders. JIA is more common in females than males. Study of Saurenmann et al. states that the European descent and native of North American were associated with a significantly increased risk of developing JIA. Prahalad et al,emphasized that the risk was increased among first and third degree relatives of children with JIA and recurrence risk was highest among first degree relatives and suggesting that there might be maternal parent of origin effect in JIA. In some patients, ILD may be the presenting feature that predates the rheumatic disease. Lung fibrosis in RA is caused by an initial cellular inflammatory process and initiates a secondary fibroproliferative process, and that the fibroproliferative process may become progressive and independent of its initiating cause producing the prototypical fibrosing lung disease. Children with ILD present with dyspnea, tachypnea, cough, exercise limitation, and frequent respiratory infections, cyanosis is a feature of advanced disease. Joint disease or rash may indicate a systemic process such as a connective tissue disease. Takastuki et al, states that severe PAH may be the initial symptoms of autoimmunre process. Diagnostic evaluation for ILD includes: chest xray, chest CT scan, BAL evaluation. PFT will reveal a restrictive lung disease but the gold standard is transbronchial biopsy. Treatment depends on the cause of ILD. Systemic corticosteroids, immunosuppressive agents, including may be given. Autologous stem cell transplant has been used in patients with JIA who have been resistant to treatment.

CONCLUSIONS: Familial ILD is an explicitly rare hereditary disease and becomes multifaceted when the main cause is another familial type of disease, familial JIA. A thorough history and a complete physical examination is needed to decrease morbidity and mortality among children.

1) Dr Milagros Bautista, section Chief of Pediatric Pulmonology, Philippine Heart Center

2) Dr. Fernando Ayuyao, Department Head of Division of Pulmonary and Critical Care Medicine, Philippine Heart Center

3) Dr. Teresita De Guia, Philippine Heart Center

DISCLOSURE: The following authors have nothing to disclose: Charo Francisco

No Product/Research Disclosure Information

Philippine Heart Center, Quezon City, Philippines




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