Written by: Ebtihal Mohsen, Shaima Alhosani
Intro to Rare Diseases
Rare diseases affect fewer than 5 in 10,000 people in the EU or less than 200,000 in the US, mainly comprising genetic disorders (up to 80%) and some cancers. Identified in over 6,000 cases, they impact around 320 million in the EU and 25 million in the US, exhibiting diverse symptoms that vary widely, even among patients with the same condition. (U. Bräuer et al., 2019)(Kohan et al., 2015)
Many proteins are mutated in rare diseases, resulting in a limited understanding of cellular mechanisms in presymptomatic patients. This knowledge gap hampers new therapies. Stakeholders at the 2016 Global Alliance for Rare Diseases meeting highlighted the need for increased focus on rare diseases. Despite varied aetiologies, shared discussions on common challenges can help all stakeholders.
Importance of Nutrition in Disease Management
Nutrition is crucial for health and disease management, particularly for rare gut-related diseases. Current nutritional strategies for many of these diseases are not well-defined, highlighting a significant knowledge gap in nutrition care. Certain rare conditions such as phenylketonuria (PKU) and Maple syrup urine disease (MSUD) have recognized dietary management strategies. However, for conditions like congenital disorders of glycosylation (CDG), cystic fibrosis (CF), congenital disorders of sialic acid (CDSA), and ulcerative colitis (UC), while key dietary components are noted, specific nutritional interventions need further investigation. Urgent exploration of nutrition care for gut-related rare diseases is essential. (Cañamares-Orbis et al., 2021)
Rare diseases significantly impact food intake and digestion, leading to nutrient and energy deficiencies, as well as increased risks of growth delays or malnutrition. Food security relies on four core dimensions: availability, accessibility, adequacy, and proper use of safe foods. Some rare diseases limit natural food availability due to impaired food production and storage. They may also alter the physical properties of food, such as texture and taste, reducing access opportunities. Moreover, diets needed for these patients often lack calorie density, risking growth delays and malnutrition. In some cases, diets may be calorie-dense but trigger metabolic disorders, further reducing food intake and uncoordinatedly elevating energy expenditure, worsening energy intake insufficiency.
Dietary Interventions for Rare Diseases
Dietary interventions for rare diseases stand as an integral facet of a comprehensive care strategy. Nutrition therapy hinges on knowledge of food sources, relative metabolic pathways, and biochemical and physiological processes governing metabolism. Effectively managing metabolic pathways, whether augmenting or restricting them, usually necessitates a multi-tiered approach that may include dietary interventions, medical formulas, and pharmaceutical and/or genetic interventions. A prime rationale for many low-protein diets is to safeguard a limited pool of essential amino acids while restricting non-essential amino acids, thereby facilitating balance while minimizing the toxin burden on an affected metabolic pathway. Such dietary therapies often necessitate careful consideration of macronutrient and micronutrient composition and energy provision to maintain normal growth or prevent wasting. Nonetheless, research base and data relevant to these issues is scarce, especially compared to the wealth of testable dietary intervention approaches. It is clear that for many rare diseases, dietary interventions offer the most immediate and powerful therapeutic avenues, yet their comparative and trans-disease efficacy is still poorly understood.
Ultimately, the a etiology of rare diseases and the mechanism of action of dietary interventions transmit plausibility and applicability of evidence-base garnered for other monogenic diseases and diet-responsive ailments. In contrast to large population studies, relatively small cohort sizes and retrospective analyses hinder health services research in a rare disease context. Priority must therefore be given, as relevant, to reviewing data sources that, at larger population scales or via time-series analysis, could lend insights into matters including medical or supply chain innovation stewardship, or mechanisms of dietary intervention efficacy or tolerability. Further and important groundwork must also be laid in conducting empirical studies to evaluate how dietary treatment addition or cessation alters metabolic set-point, the effect of body weight on metabolic set-point, the quantitative contribution of dietary intake to metabolite change, or accounting for overlapping dietary interventions. Such studies uncoupling dietary from other changes must be identified, developed, and conducted.
Role of Healthcare Professionals
Nutritional care involves nutrition specialists, clinical teams, nursing, physicians, and dietitians, sharing responsibilities. A Turkish study found low awareness of rare diseases among healthcare workers, who are crucial in identifying early metabolic diseases through detailed personal and family histories, emphasizing the need for greater awareness. (Koç & Küçükkasap Cömert, 2023)
Health care professionals’ decision-making styles in diagnosing rare diseases vary, affecting both experienced and inexperienced providers. Those knowledgeable about rare diseases utilize their understanding of patients’ conditions and past experiences.
Decision styles in diagnosing rare diseases help health systems create effective management protocols focused on knowledge sharing. The impacts of rare diseases include dissatisfaction, strained doctor relationships, lost hope, family burden, and reduced quality of life. Advocacy for comprehensive managerial policies is crucial.
Dietitians
Dietitians are qualified professionals who convert nutrition science into practical guidance. They offer personalized, evidence-based nutritional interventions to treat or prevent diseases, particularly for patients with rare conditions who find healthy diet planning challenging. Understanding a patient’s disease status and biochemical mechanisms is crucial for effective nutritional therapy. Dietitians balance strict dietary rules with flexibility, adjusting for changes in nutritional needs due to disease progression, health, medication, and stress. They also advise on appropriate cheat meals to help maintain a balanced diet. (Jeffrey & Heruc, 2020)
Physicians
Intervention for rare diseases (RDs) should begin immediately after diagnosis, given their major impacts on patients and families. Pediatricians, as primary healthcare providers, must lead a multidisciplinary team. They should discuss prognosis and long-term treatment effects with families, ensuring all children with RDs are screened for symptoms and receive timely follow-up. (Helena Vaisbich et al., 2019)
Treatment discussions must involve the multidisciplinary team and be shared with the patient’s family. Understanding the reasons for treatment, including medication and dietary restrictions, is essential for well-being. Managing side effects and consulting psychiatrists early is crucial, as lifelong medication may be needed. Assessing the disease’s impact on the child’s future quality of life is important.
Patients and families would greatly benefit from meeting soon with others facing similar diagnoses. Support group meetings provide a unique chance to learn practical information and coping tips from those who have successfully adapted.
Nurses
Malnutrition affects 30-50% of healthcare patients, making nurses crucial for nutritional assessments and interventions. However, over half of healthcare practitioners in hospitals, nursing homes, and community care do not perform malnutrition screenings. This qualitative study involved in-depth interviews with 14 nurses from three surgical/trauma wards, leading to one theme and six categories.
Most nurses recognized the significance of malnutrition screening, yet implementation faced challenges such as time constraints, inefficiencies, and inadequate knowledge of screening eligibility. Malnourished patients were seen as more than their condition, with doctors viewed as primary beneficiaries. Issues like the absence of guidelines and limited nursing authority in nutrition care also contributed.
Conflicting values emerge when nurses handle screening and nutritional care, as they find the workload burdensome and expensive. Barriers like inefficient tools, vague instructions, and inconsistent guidelines create frustration and resistance, reflecting a lack of business-oriented perspectives on care and screening recommendations.
Nurses’ knowledge and attitudes in acute care are crucial for nutritional care. Appropriate screening tools and clear instructions are essential for implementing malnutrition screening. When nurses conducted screening, the malnutrition prevalence rate increased, irrespective of the tool used. The specificity of the screening tool and the healthcare setting affected the identification rate of malnourished patients. (Khalaf et al., 2014)
Case Studies of Nutritional Interventions
Crohn’s disease (CD) is a type of inflammatory bowel disease (IBD) that is often diagnosed in adolescents and young adults. The genetic causes of gastrointestinal dysmotility syndromes are still largely unknown. Mutations in the gene PKP2 have been identified as a cause of arrhythmic Right Ventricular Dysplasia (ARVD). However, a significant percentage of PKP2 mutation carriers do not develop ARVD or phenotypes with more mild or atypical expression. There is great variability in the genetics of this disease, and understanding how this gene leads to the different heart and gastrointestinal phenotypes is critical for furthering knowledge of these diseases and developing potential treatments.
CD can lead to malnutrition, vitamin and mineral deficiencies, and various inflammatory markers. Properly assessing patients and planning nutritional interventions can enhance nutrient intake, improve vitamin and nutrient status, and help induce remission. Clinical dietitians aim to reduce malnutrition rates and readmissions by enhancing communication among healthcare providers. Future research should focus on the benefits of long-term or supplemental nutrition support, whether at home or in hospitals, to further combat malnutrition and promote remission. Investigating enteral nutrition, particularly in older adults, is essential. Dietitians are crucial in improving patient outcomes and the quality of life for hospitalized CD patients.
Case Study 1: Metabolic Disorders
Children suffering from Inborn Error Metabolic (IEM), which includes amino acid disorders, are one of the rare diseases patients who need nutritional care. Genetic metabolic disorders can be classified into four main types: organic acidemia, urea cycle disorder, inherited amino acid disorder, and fatty acid oxidation defects. Maple Syrup Urine Disease (MSUD) is one of the most common and severe types of amino acid disorder. The branched-chain keto acid dehydrogenase complex is deficient in patients with MSUD, which causes an inability to metabolize branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine. This deficiency leads to high levels of these amino acids in blood and cerebrospinal fluid, high levels of branched-chain alpha-ketoacids in urine, and the development of the pathognomonic disease marker alloisoleucine. Body organs, especially the brain, suffer from this deficiency. Prior to treatment, most MSUD patients suffer severe metabolic crisis and neurological failure, and/or die (generally in the first year of life). MSUD care involves a strict lifelong diet, regular blood tests to monitor dietitian recommendations, and some amount of prescribed drugs and supplements. Proper nutritional management leads to natural growth and development of patients, or improves their condition to the extent of decreasing the likelihood of severe problems in the future (Duś-Żuchowska et al., 2024). Careful control over the nutritional balance of the three amino acids is crucial, and even a small breach of this strict diet could result in the brain being irreversibly damaged or death occurring in a few hours. However, many MSUD patients have not been adequately monitored of the risk factors and have experienced crisis events resulting in brain damage or even death.
Managing nutrition for MSUD patients, especially young children, presents challenges due to the discrepancies between clinical guidelines and real life. Parents must prepare meals adhering to dietary restrictions and nutritional needs, which requires complex calculations. MSUD dietitians stress the importance of monitoring protein, energy, BCAAs, vitamins, and minerals, but the lack of nutrient information on food labels makes tracking difficult. Patients often use digital or handwritten diaries which can be time-consuming and prone to mistakes, typically reporting only cereal and fluid intake. Research is looking into smartphones and smart devices to aid calorie and diet monitoring due to their convenience. Innovations like computer vision and deep learning can automate nutrient identification through food images, improving accuracy in nutrient assessment and benefiting MSUD patient care.
Case Study 2: Genetic Disorders
Despite advances in understanding a rare monogenic disorder, diagnosing it remains challenging when classic symptoms appear late. A 19-year-old female with nephronophthisis reached end-stage renal disease before diagnosis. Initial symptoms included fatigue and poor appetite, with moderate anemia and impaired renal function observed. An MRI showed small kidneys with renal parenchymal loss, confirming the diagnosis. She required hemodialysis and suffered from uremia. Chronic kidney disease in her teens and family history supported the diagnosis of adolescent syndromic nephronophthisis. Exome analysis revealed a novel compound heterozygous pathogenic variant affecting NPHP1 splice sites, with one allele showing a haploinsufficient in-frame deletion and another a splice site mutation. Nephronophthisis is an autosomal recessive ciliopathy associated with over 20 primary cilium gene mutations, causing cystic kidney disease and impaired urine concentrating ability, typically presenting early in life with symptoms like fatigue and growth retardation. Although some mid-teens patients with mild azotemic renal failure show normal urine concentrating ability, late-onset cases often present diagnostic complexities. (Ajiboye et al., 2023)
Case Study 3: Autoimmune Conditions
Severe Diarrhea and Abdominal Pain in a 63-Year-Old Male with Autoimmune Enteropathy (AIE)
Autoimmune Enteropathy (AIE) is a rare, chronic condition characterized by intractable diarrhea, vomiting, and weight loss. It often results in malnutrition and can be diagnosed as inflammatory bowel disease. The epidemiology of AIE in adults is not well described. Here, a case of malnutrition secondary to AIE is presented. Details are provided on the clinical presentation of an adult male in Ontario, Canada, who underwent multiple admissions for significant chronic watery diarrhea, initially diagnosed with ulcerative colitis and treated accordingly.
He suffered from dyselectrolytemia and TPN dependence. Initially treated with IV steroids, he showed little improvement and was referred to Gastroenterology for malnutrition evaluation. Key findings included severe dehydration and TPN necessity due to diarrhea, vomiting, and intolerance. An EGD showed duodenal villous blunting and significant apoptotic bodies, consistent with AIE. Testing indicated weakly positive TTG and HLA DQ2, recommending a gluten-free diet.
The patient’s symptoms drastically improved from 10-12 bowel movements daily to 1-2 bowel movements daily within two weeks of treatment (S Minhas et al., 2024). AIE is a rare cause of malnutrition in adults. Patients can present with significant chronic diarrhea that fails to respond to medical therapy for IBD. AIE is associated with other autoimmune conditions. Histology typically shows villous atrophy, villous blunting, and apoptotic bodies (Ayesh et al., 2021).
Emerging Research in Nutrition and Rare Diseases
Research is exploring how nutrition influences rare diseases. Dietary factors may impact their onset; for example, docosahexaenoic acid could help alleviate symptoms of Zellweger syndrome. There’s emerging evidence that micronutrients affect progressive leukoencephalopathy. Dietary changes might reduce mutation effects in the SCN8A gene associated with certain epilepsy syndromes. While early gene delivery for Unverricht-Lundborg disease shows promise, the role of diet in enhancing treatment remains unclear. Advances in this area could inform nutrition policies for the general population.
Most intervention studies have primarily centered on dietary supplements or fortified foods. A limitation is the varied experimental conditions and short testing periods, complicating result comparisons. Moreover, food intervention preparation and delivery have differed widely in food selection and cooking methods, potentially affecting outcomes. Subjective dietary assessments, like food frequency questionnaires, often misreport data. As we investigate dietary links to rare diseases, clearer guidelines for effective interventions are desired. Novel sensitivity analyses must reassess nutrient intake adequacy considering metabolic variations.
Clinical Trials
The rarity of diseases and low patient numbers have led to few and sometimes unpublished clinical trials for rare diseases, facing unique challenges unlike traditional trials. A literature review emphasizes the need for transparency in enrollment procedures, randomization, blinding, bias prevention, and eligibility criteria. As co-Principal Investigator for a Phase II clinical trial, I suggest enhancing trial method discussions by creating a dedicated forum, an open-source database, a searchable archive of trial designs, and implementing publication mandates. (Ah Mew et al., 2018)
The ECRIN-IA project advances vital resources and addresses parental involvement in children’s clinical research, especially in rare diseases (RDs). Engaging parents not only safeguards their interests but also aids research, though recruitment of participants and researchers presents challenges. The distinct nature of RDs influences parental roles, necessitating a participatory approach that balances parental involvement with beneficiary needs. An ethical framework of four roles for parental involvement is proposed. The paper discusses challenges in children’s research participation and offers solutions. Additionally, it examines data from double-blind randomized controlled trials to illustrate dietary treatment benefits for 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG) amidst the absence of placebo-controlled trial data. (Laville et al., 2017)
Innovative Nutritional Therapies
Introducing a new nutritional therapy for rare diseases is challenging. Education for patients, physicians, and health professionals is crucial. The complexity and uncertainty surrounding these therapies, combined with limited disease knowledge and patient specificity, lead to skepticism. Collaborative efforts between scientific societies, patient associations, and companies are necessary to enhance education and communication.
Dedicated platforms can help gather practical experience on new nutritional products and their contraindications, expanding foundational knowledge. Repairs are needed to leverage existing knowledge from previous therapies for other products or diseases. Established structures for knowledge exchange must be revised and adapted for this new therapeutic range.
Metabolites’ supplementation for rare diseases is emerging, yet many questions remain for optimal patient care. Regulatory challenges arise as “survival” should exceed biochemical normalization. Future challenges include evaluating the impact of nutritional therapy on disease progression, assessing cognitive and behavioral profiles, monitoring long-term adherence, and defining caregiver education needs. As experience increases, guidelines and treatment reviews must be established to ensure effective data analysis and interpretation. (Garutti et al., 2023)
Patient Education and Resources
Patient education in rare diseases is of a different order because of their rarity (MOONEY & WATTS, 2017). The right health professionals are often scattered and may not be readily available. They want information delivered by an experienced health professional both orally and in writing. However, for those with rare diseases, access to this information is complicated. Patient support groups have provided patients with rheumatological conditions with details about treatments, physicians, and specialist centers in an accessible form, which can easily be downloaded for family members. These groups explain rare conditions and offer literature on their implications in a non-threatening manner. They carry out telephone support, which for patients with rare conditions may be of paramount importance. Many patients will find it easier to talk than to write and to ask other patients questions, cross-checking the authenticity of information. For everyone, the web sites of patient support groups provide a source of immediately available information derived from other patients. In addition, they offer the opportunity to network with other patients, to ask questions, and to cross-check information (Kohan et al., 2015). Patients with rare diseases deserve education of the same quality as that provided to patients with more common conditions.
Despite their heterogeneous etiologies, about 70% of RDs are genetic in origin. Genetics is a rapidly advancing science with complex information that can be difficult to comprehend. Advanced information, such as the possible sealing of a genetic laboratory or commercial interests in rare diseases (RD), should be explained to patients in a way that is easy to understand. It has been shown that professionally prepared written material is beneficial in both the short and long term for all patients. The accuracy of information regarding RDs is important since scientific knowledge can cause both optimism and worry. Writing texts for the public is time consuming and costly. However, hyper texts can be prepared on the internet. The use of the internet or stations at health care institutions may be advised for the education of patients as well as health professionals.
Future Directions in Nutritional Care
Clinical nutrition plays a crucial role in cystic fibrosis (CF) care. With CFTR modulators and chronic disease effects, nutritional support is vital. Understanding macronutrient and micronutrient needs, as well as enteral nutrition through oral and tube feeding, is on the rise. Advances in parenteral nutrition and pancreatic enzyme replacement therapy have significantly improved outcomes for CF patients. (Mariotti Zani et al., 2023)
Future direction focuses on CFTR modulator therapies that enhance nutritional status in specific populations. While one approach may not suit everyone, trials of lumacaftor/ivacaftor combinations have demonstrated consistent benefits for nutrition and healthcare. Ongoing studies aim to clarify the long-term effects of these therapies.
Dietary interventions are crucial for CF patients and future treatments. Meal composition impacts lung function and should be considered. Evidence-based dietary practices must be integrated into clinical settings. Meeting CF-specific dietary needs and safely introducing solid foods can benefit patients and families. CF care centers should adopt interdisciplinary approaches to discuss nutrition, therapies, safety, and family welfare. (Schuetz, 2017)
Integrative Approaches
Nutritional management is crucial for preventing excess morbidity and mortality, ensuring quality of life, and optimizing outcomes for rare disease patients and families. Expert professional support is essential. Precision nutrition focuses on accurate patient characterization before complex diets are suggested, shifting from basic needs to a proactive approach for individual and family well-being. (Garutti et al., 2023)
Caregivers of rare disease patients must work with the Healthy Nutrition and Good Eating Committee to create tailored recommendations. Individual guidelines should consider clinical, nutritional, metabolic, and family factors. It’s crucial to identify conflicting family preferences and achieve compromises between safety and cultural acceptability. Families should assist professionals in addressing any unrealistic desires or concerns to ensure optimal care.
Technological Innovations
Nutrition care is essential for treating rare diseases. A patient-tailored approach is necessary for safe and effective nutrition support. Recent advancements in research, technology, and nutrition strategies have significantly enhanced tailored nutrition services for these patients. (Vives Corrons, 2024)
Artificial intelligence (AI) is advancing quickly, affecting areas such as health and business, and nearing human intelligence. Patient-tailored nutrition is intricate, shaped by genetics, microbiome, blood type, co-morbidities, and medications. A computerized decision-support system (CDSS) is suggested for rare diseases, collecting data and reviewing literature for optimal practices. Although CDSS helps in personalized nutrition, a filtering mechanism is essential to prioritize relevant treatment outputs.
Healthcare is viewed as a system where patients visit clinics for treatment, with doctors as providers and patients as passive recipients. This model lacks coordination among stakeholders and addresses issues like equity poorly. To meet increasing demands from COVID-19 and an aging population, innovation, technology enhancement, and service restructuring are essential. (Garutti et al., 2023)
Conclusion
Nutrition is a crucial aspect of health management that can enhance clinical outcomes, improve quality of life, and reduce the severity and extent of symptoms in patients suffering from rare diseases (Cañamares-Orbis et al., 2021). There are established evidences that rare disease patients experience increased risk of nutritional inadequacy, depletion, or both across all life stages. In doing so, they accumulate wider nutritional stressors such as inordinate dietary restrictions, hunger, altered eating patterns, barriers to food access, change in food sources, and in turn increased risk (Garutti et al., 2023). Compared to people without rare diseases, risks of anxiety-related eating problems almost doubled for individuals with rare diseases. The establishment of Nutrition Care Specialists in multidisciplinary teams in health care systems would help in addressing unmet nutritional needs, thereby attaining optimum health outcomes. Despite public engagement in global nutrition programs, inequities existed for rare diseases patients due to degree of rarefied data, obstacles to food access and shifts in food sourcing, and gender inequities. Rare diseases patients impose higher risk of food insecurity, health risk behaviors and multi-stressors, which may lead to physical, emotional and financial burdens. In a nutshell, the needs of nutrients and dietary pattern may vary across the diverse patient population with different types of rare diseases. New nutrition care service models must be established that would be integrated into routine clinical care to aid all patients in accessing needed nutrition care.
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