3 or More Siblings with Cystic Fibrosis at Higher Risk for Increased Disease Severity, Poor Prognosis

3 or More Siblings with Cystic Fibrosis at Higher Risk for Increased Disease Severity, Poor Prognosis

CF patients living to 50 in Cancada

A recent study from Israel found that three or more patients with Cystic Fibrosis in one family may be a risk for more severe disease and poor prognosis. The study entitled “Several siblings with Cystic Fibrosis as a risk factor for poor outcome” was recently published in the Journal Respiratory Medicine.

Cystic Fibrosis (CF) is an autosomal recessive disease characterized by loss of function of CF Transmembrane conductance Regulator (CFTR) protein, resulting in respiratory, gastrointestinal, and fertility manifestations.

Evidence has shown that CF can occur in more than one family member, however, there are differences in CF progression and expression between numbers of siblings with the disease. An early identification is crucial is newborns, which may promote the diagnosis of an older sibling, thus potentially contributing to better outcomes. One feature that has been found to co-occur in siblings with CF is the same strain of Pseudomonas aeruginosa, however it remains unclear if the airway colonization occurs earlier or is due to transmission from an older sibling. In this regard, Moran Lavie and colleagues from the Pulmonary Unit and the National Center for Cystic Fibrosis, The Edmond and Lily Safra Children Hospital, Sheba Medical Center in Israel evaluated the role of multiple CF patients in a single family in terms of disease progression and outcome.

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The team of researchers identified 2-siblings (2-sibs, n = 42) or 3/4 siblings (3/4-sibs, n = 22) with CF in one family. Each sibling patient was matched by age, mutation, and gender to a single CF patient. The results revealed that when compared to singles, 3/4 of the siblings subgroup had a lower FEV1, a faster decline rate, more airway colonization by Pseudomonas aeruginosa and Mycobacterium abscessus, and more lung transplants. Furthermore, the researchers observed that the last mean FEV1 within ¾-sibs was significantly lower for the youngest sibling.

Findings from this study strongly indicate that 3 or more patients with CF belonging to one family can be a risk factor for severe CF expression and poor prognosis. This was clearly noticed in lower PFTs, a faster decline rate of PFTs, more bacterial airway colonization, and increased frequency of lung transplant. The authors concluded that healthcare professionals should strongly consider this risk factor, and manage the families’ burdens with CF accordingly.

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