Cystic fibrosis

Epidemiology of cystic fibrosis-related deaths in the united states, 1999-2023: A CDC WONDER-based study (2025)

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Type of publication:

Conference abstract

Author(s):

Mushtaq I.; Sarfraz M.R.; Hemida M.F.; *Ali A.; Ibrahim A.A.; Patel K.; Saghir M.; Sharhiar Z.; Ahmad H.M.; Chaudhry Z.J.

Citation:

Thorax. Conference: British Thoracic Society Winter Meeting 2025. Westminster . 80(Supplement 2) (pp A55-A56), 2025. Date of Publication: 01 Nov 2025.

Abstract:

Background Cystic fibrosis (CF) is a hereditary multisystem disorder predominantly affecting the respiratory system, contributing significantly to morbidity and mortality in the developed nations, despite advancement in treatments. Characterizing mortality patterns across demographic and geographic populations is essential for developing targeted prevention and management strategies. Therefore, we analyzed temporal mortality trends in cystic fibrosis across diverse populations in the United States from 1999-2023. Methods Data were extracted from the CDC WONDER database (1999-2023) to identify mortality rates among individuals aged >=1 year with CF listed as the underlying cause of death (ICD-10: E84.0, E84.1, E84.8, E84.9). Age-adjusted mortality rates (AAMRs) per 100,000 population were calculated and stratified by sex, age group, race/ethnicity, geographic region, and place of death. Temporal trends were analyzed using Joinpoint regression to estimate average annual percent change (AAPC). Results From 1999-2023, 11,997 deaths were reported among individuals with CF across all age groups (<1 to >=65 years). The AAMR decreased significantly from 0.19 in 1999 to 0.09 in 2023 (AAPC: -3.1%; p<0.000001), with accelerated decline in recent years. Both sexes demonstrated comparable average AAMRs (0.15), though with different rates of decline: men (AAPC: -2.7%; 95% CI: -4.17 to -1.29; p=0.0002) and women (AAPC: -2.9%; 95% CI: -4.19 to -1.66; p=0.000008). By race/ethnicity, non-Hispanic populations exhibited higher overall AAMRs compared to Hispanics (0.18 vs. 0.06), with incongruent trends observed among non-white races and Hispanic populations. Regionally, the Midwest recorded the highest AAMR (0.17), followed by the South (0.16), Northeast (0.15), and West (0.13). Age-stratified analysis revealed peak mortality in the 15-34 years group (0.32/100,000), followed by the 35-64 years group (0.12/100,000). Most deaths occurred in inpatient medical facilities (8,260 deaths; 68.8%). Conclusion CF mortality rates declined significantly over two decades, with comparable reductions in both sexes. However, substantial disparities persist, with young adults (15-34 years) experiencing high mortality rates and notable racial/ethnic differences. Regional disparities were evident across geographic areas. While these findings suggest improved CF management and care, they underscore the critical need for targeted interventions addressing persistent demographic and geographic disparities to ensure equitable outcomes across all populations.

DOI: 10.1136/thorax-2025-BTSabstracts.79

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Intussusception of the appendix in a young adult: an important differential diagnosis of abdominal pain in cystic fibrosis patients? (2023)

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Type of publication:
Journal article

Author(s):
*Venkatasami, Meena; *Cobby, Ellen.

Citation:
Journal of Surgical Case Reports. 2023(3):117, 2023 Mar.

Abstract:
Cystic fibrosis (CF) is commonly associated with gastrointestinal manifestations from infancy to adulthood. Distal intestinal obstruction syndrome (DIOS) affects 20% of CF patients, where intussusception can be a rare complication. A 20-year-old CF male was diagnosed with a 3-day history of right iliac fossa pain and diarrhoea. Clinical examination revealed a tender palpable mass in the right iliac fossa and raised serum inflammatory markers. Contrast computerized-tomography of the abdomen-pelvis suggested intussusception of the appendix and further confirmed on histological analyses. The patient underwent an open appendicectomy where the intussusception had self-resolved. The literature review indicated a scarcity of data with 10 cases reported of intussusception in adult CF patients. Our case was in line with previous research of transient intussusception. This rare case highlights an importance to carry a higher index of suspicion for gastrointestinal manifestations in CF patients where differential diagnoses of DIOS and intussusception should be considered in the acute presentation.

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Intussusception of the Appendix in a Young Adult with Cystic Fibrosis: An Important Differential Diagnosis of Abdominal Pain in Cystic Fibrosis Patients? (2022)

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Type of publication:
Conference abstract

Author(s):
*Venkatasami M.; *Cobby E.

Citation:
British Journal of Surgery. Conference: ASiT Surgical Conference 2022. Aberdeen United Kingdom. 109(Supplement 6) (pp vi57), 2022. Date of Publication: September 2022.

Abstract:
Background: Cystic fibrosis (CF) is commonly associated with gastrointestinal manifestations from infancy to adulthood. Intussusception in the paediatric CF population is widely reported, whereas in the adult, distal intestinal obstruction syndrome (DIOS) is common affecting 20%, of which, intussusception is rare and appendiceal intussusception is rarer, affecting 1%. Case-Description: A 20-year-old male with CF presented with 3 days of right iliac fossa pain and diarrhoea. On admission, he was hypotensive and afebrile. Clinical examination revealed tenderness of the right flank with a palpable mass in the right iliac fossa. Serum investigations showed mildly raised inflammatory markers. Contrast CT of the abdomen-pelvis confirmed intussusception of the appendix into the ascending colon. Histological analysis of the appendix further demonstrated intussusception, with intraluminal mucinous material. Fascinatingly, no transmural inflammation was present. The patient underwent a laparotomy-open appendicectomy. Interestingly, intraoperative findings showed the intussusception resolved, no longer requiring surgical reduction. Patient postoperative recovery was complicated by pneumonia for which he was transferred for specialist CF respiratory care and thereafter, discharged. Discussion(s): Literature review highlighted a paucity of data, with 10 reported cases of appendiceal intussusception in adult CF patients. Interestingly, we report the intussusception had reduced by the time of operation. This is in-keeping with previous case reports of transient intussusception which spontaneously resolved. Conclusion(s): From this rare case presentation, we have learnt it is imperative to carry a high index of suspicion for gastrointestinal manifestations in CF patients where acute appendicitis is seen less often and differential diagnoses like DIOS and intussusception should be considered.

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