Dedicated physicians strive to offer the best possible care to every patient who walks through our doors. Yet, a significant segment of the population faces illnesses that often leave them struggling for accurate diagnosis and effective treatment: those affected by rare disorders and diseases.While individually uncommon, collectively, rare disorders impact a staggering 300 million people worldwide. This translates to roughly 1 in 20 individuals potentially encountering a rare disease in their lifetime. Despite their prevalence, these conditions often remain shrouded in obscurity, presenting unique challenges for both patients and healthcare professionals.
This article aims to shine a light on the world of rare disorders. Here's why being aware of rare disorders is critical for your practice, especially as we approach Rare Disease Awareness Day on 29 February 2024:
- Early diagnosis is paramount: Many rare disorders share symptoms with more common conditions, leading to misdiagnosis and delayed intervention. Increased awareness and knowledge of their unique presentations can expedite accurate diagnosis, enabling earlier treatment and potentially mitigating long-term complications.
- Improved patient care: Recognising rare disorders allows you to provide more targeted and effective care plans. This includes ensuring appropriate referrals to specialists, navigating the often-complex healthcare system for your patients, and offering emotional support.
- Collaboration is key: Rare disorders often require a multidisciplinary approach. By being aware of relevant specialists, support groups, and patient advocacy organisations, you can effectively collaborate and ensure your patients receive the comprehensive care they deserve.
- Research and development: Awareness fuels progress. By recognising the prevalence and impact of rare disorders, we can advocate for increased research funding and contribute to the development of new diagnostic tools, therapies, and ultimately, cures.
As we approach 29 February, take a moment to engage with the Rare Disease Day campaign. Participate in local events, share informative resources with your colleagues and patients, and advocate for increased awareness and support for those living with rare disorders. Visit:https://www.rarediseaseday.org/# or read one of the following articles.
Hereditary haemorrhagic telangiectasia
In the first adequately powered randomised clinical trial on hereditary haemorrhagic telangiectasia (HHT), pomalidomide reduced epistaxis and improved quality of life (QoL) compared with a placebo. Read more.
BRCA1 hereditary breast and ovarian cancer syndrome
More than 1 in 5 young women who are pathogenic BRCA carriers became pregnant after a diagnosis of early breast cancer. Their disease-free survival after pregnancy was comparable with those who did not become pregnant, as was shown by results of an international study. Read more.
Heterozygous familial hypercholesterolaemia
The first-in-human study to investigate VERVE-101, a novel CRISPR base editing medicine, showed successful inactivation of hepatic PCSK9 in the liver by changing a single DNA base pair. Furthermore, durable, dose-dependent reductions of LDL-cholesterol profile were observed in the first assessed patients with heterozygous familial hypercholesterolaemia (HeFH). Read more.
Nephronophthisis
Prostaglandin E1 (PGE1) treatment in nephronophthisis (NPH) patient urine-derived epithelial cell lines (URECs) rescued ciliary deficits. In a knockout mouse model of NPH, treatment improved renal tubular dilatations. Read more.
Systemic scleroderma
Analysis of data from the European Scleroderma Trials and Research (EUSTAR) group showed that in patients with systemic sclerosis (SSc), interstitial lung disease (ILD) can appear at any time. Incidence throughout the disease course was similar. The authors recommend screening SSc patients after a negative baseline high-resolution computed tomography (HRCT). Read more.
An example of typically a non-hereditary rare diseases is short bowel syndrome
A recent study has unveiled the potential of apraglutide in managing short bowel syndrome with intestinal failure and colon-in-continuity (SBS-IF-CiC). This research offers hope for patients grappling with the challenges of short bowel syndrome, a rare gastrointestinal condition marked by a high risk of developing intestinal failure. Read more.
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