In the 2019 paper by Carlo Sabbà et al, rare diseases in the elderly: a new perspective for the specialist in geriatrics, Geriatric Care 2019; volume 5:8769, Carlo Sabbà (and co-authors) highlighted the challenges facing geriatric specialists managing rare diseases (RD).

Historically associated with paediatrics, demographic changes reveal a growing number of elderly persons with RD. Although typically RD patients face complex healthcare pathways, encounter diagnostic delays, dispersed expertise centres and limited therapeutic options, some RD patients survive into geriatric age due to early diagnosis and improved care options.

The presence of advanced age adds complexity to managing RD:

  • Co-morbidities and multimorbidities in elderly RD patients complicate diagnosis and treatment
  • Geriatric specialists face the challenge of recognizing and managing RD, considering associated comorbidities and multimorbidities
  • Frailty, a familiar concept in geriatrics, gains new significance with the aging RD population
  • Frailty in elderly RD patients results from a complex interplay of aging-related and RD-associated vulnerabilities

A recently published real world evidence study by Jamie O’Hara et al, New challenges for an expanding generation of older persons with haemophila, The Journal of Haemophilia Practice, Volume 9 (2022): Issue 1 (January 2022), investigates this challenge for an expanding generation of older persons with haemophilia. The study describes the association between increasing age and prevalence of comorbidities and the impact of aging on health related quality of life (HR-QoL) in the population.

Raised expectations anticipated from prophylaxis treatment versus earlier generations include:

  • People with haemophilia will develop less joint damage
  • People with haemophilia will experience normal life expectancies.

These expectations need to be balanced with the challenge of ageing, age related issues and impact on quality of life.

Analysis from CHESS (Cost of Haemophilia across Europe- a Socioeconomic Survey), explored the association between age, comorbidities, and health-related quality of life (HRQoL) in 1,227 participants with severe haemophilia. The results showed:

Health Burden & QoL Impact Adults with haemophilia not only grapple with complications of their condition but also face an elevated risk of age-related conditions like diabetes and heart disease.

  • Comorbidity prevalence rises with age, impacting 68% of those in the 61+ age group.
  • Anxiety, depression, and hypertension are frequently reported
  • Multimorbidity more prevalent in patients with osteoporosis and rheumatoid arthritis.
  • Age-related impact exhibits a pattern of increasing impact on quality of life with age.
  • EQ-5D Domains: Mobility, self-care, usual activities, pain and anxiety/ depression domains reflect age-related variations in quality of life.

The CHESS study sheds light on cardiovascular and bone health comorbidities commonly linked with aging populations highlighting the need for multidisciplinary approach to treatment. The Association of self-reported problems related to anxiety or depression emphasizes the importance of including measures to enhance mental well-being in the multidisciplinary treatment strategy also.

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