Category: Case Study

Investigating Fatigue and Exercise Intolerance in a University Immunology Clinic

Abstract:

Purpose: This manuscript reviews the experience of a University Immunology clinic with the evaluation of patients with idiopathic fatigue and exercise intolerance for the presence of metabolic disorders. Laboratory, biochemical and genetic studies were utilized in the evaluation.

Recent Findings: Of the 372 patients evaluated, 95% were found to have a treatable metabolic disorder. A defect in the glycogen storage pathway was found in 78 patients. Mitochondrial disorders were found in 258 patients. Myoadenylate deaminase deficiency was found in 7 patients. Various congenital myopathies were identified in 11 patients. Inflammatory myopathies were identified in 25 patients, 6 of whom had normal muscle enzymes on the initial evaluation.

Summary: The majority of patients (95%) referred with idiopathic fatigue and exercise intolerance after extensive evaluations were found to have underlying metabolic dysfunction. Frequently associated problems included gastrointestinal dysmotility disorders, recurrent infections, Raynaud’s, migraine headaches and various autoimmune diseases. Most patients showed symptomatic improvement with treatment of their metabolic dysfunction.

Source: Julian L A, Paul I, Molly M, John B, Lucia B. Investigating Fatigue and Exercise Intolerance in a University Immunology Clinic. Arch Rheum & Arthritis Res. 1(1): 2020. ARAR.MS.ID.000505. https://irispublishers.com/arar/fulltext/Investigating-Fatigue-and-Exercise-Intolerance-in-a-University.ID.000505.php (Full study)

Chronic Fatigue Syndrome: A Case Report Highlighting Diagnosing and Treatment Challenges and the Possibility of Jarisch-Herxheimer Reactions If High Infectious Loads Are Present

Abstract:

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex multi-system disease with no cure and no FDA-approved treatment. Approximately 25% of patients are house or bedbound, and some are so severe in function that they require tube-feeding and are unable to tolerate light, sound, and human touch.

The overall goal of this case report was to (1) describe how past events (e.g., chronic sinusitis, amenorrhea, tick bites, congenital neutropenia, psychogenic polydipsia, food intolerances, and hypothyroidism) may have contributed to the development of severe ME/CFS in a single patient, and (2) the extensive medical interventions that the patient has pursued in an attempt to recover, which enabled her to return to graduate school after becoming bedridden with ME/CFS 4.5 years prior.

This paper aims to increase awareness of the harsh reality of ME/CFS and the potential complications following initiation of any level of intervention, some of which may be necessary for long-term healing. Treatments may induce severe paradoxical reactions (Jarisch-Herxheimer reaction) if high infectious loads are present. It is our hope that sharing this case will improve research and treatment options for ME/CFS.

Source: Straub RK, Powers CM. Chronic Fatigue Syndrome: A Case Report Highlighting Diagnosing and Treatment Challenges and the Possibility of Jarisch-Herxheimer Reactions If High Infectious Loads Are Present. Healthcare (Basel). 2021 Nov 10;9(11):1537. doi: 10.3390/healthcare9111537. PMID: 34828583. https://pubmed.ncbi.nlm.nih.gov/34828583/

Exploring Symptom Fluctuations and Triggers in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Using Novel Patient-Centred N-of-1 Observational Designs: A Protocol for a Feasibility and Acceptability Study

Abstract:

Background: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a chronic condition of unknown aetiology associated with a range of disabling symptoms, including post-exertional malaise, chronic fatigue, musculoskeletal pain, orthostatic intolerance, unrefreshing sleep, and cognitive dysfunction. ME/CFS is a heterogeneous disorder, with significant variation in symptom type and severity between individuals, as well as within individuals over time. The diversity of ME/CFS symptom presentation makes management challenging; treatments supported by data from randomised controlled trials may not work for all individuals due to the variability in experienced symptoms. Studies using quantitative N-of-1 observational designs involve repeated outcome measurements in an individual over time and can generate rigorous individual-specific conclusions about symptom patterns and triggers in individuals with ME/CFS. This study aims to explore the feasibility and acceptability of using novel patient-centred N-of-1 observational designs to explore symptom fluctuations and triggers in ME/CFS at the individual level.

Methods and analysis: Individuals with a medical diagnosis of ME/CFS will be recruited through ME/CFS patient organisations to participate in a series of patient-centred N-of-1 observational studies. Using a wrist-worn electronic diary, participants will complete ecological momentary assessments of fatigue, stress, mood, and cognitive demand, three times per day for a period of 6-12 weeks. Personally relevant symptoms and triggers will also be incorporated into the questionnaire design. Physical activity will be objectively measured via an integrated accelerometer. Feasibility and acceptability outcomes will be assessed including the percentage of diary entries completed, as well as recruitment and retention rate, feasibility of analysing and interpreting the data collected, and participant views about participation elicited via a post-study semi-structured interview.

Discussion: This study will assess the feasibility and acceptability of patient-centred N-of-1 observational studies to assess diseases with complex presentations such as ME/CFS, as well as provide individual-level evidence about fluctuations and triggers of ME/CFS symptoms that may aid self-management.

Trial registration: Australian and New Zealand Clinical Trials Registry: ACTRN12618001898246. Registered on 22 November 2018.

Source: McDonald S, Tan SX, Banu S, van Driel M, McGree JM, Mitchell G, Nikles J. Exploring Symptom Fluctuations and Triggers in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Using Novel Patient-Centred N-of-1 Observational Designs: A Protocol for a Feasibility and Acceptability Study. Patient. 2021 Aug 9. doi: 10.1007/s40271-021-00540-0. Epub ahead of print. PMID: 34368926.  https://pubmed.ncbi.nlm.nih.gov/34368926/

Case Study Suggests Young People Susceptible To Chronic Fatigue Syndrome After Covid-19

Press Release:

With more adolescents and young adults being treated for COVID-19, clinicians are concerned that these people also will start showing post-COVID — or “long haul” — symptoms from their bouts with the virus. A recent Johns Hopkins Medicine review of three case studies provides some of the first evidence that one serious post-COVID problem may be myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), the complex, multisystem disorder previously known as chronic fatigue syndrome.

The findings were published April 29 in the journal Frontiers in Medicine.

“In the three patients studied — all of whom had confirmed or highly probable COVID-19 infections early in the pandemic — we observed ME/CFS-like symptoms within the first two weeks of illness,” says Peter Rowe, M.D., director of the Chronic Fatigue Clinic at Johns Hopkins Children’s Center and professor of pediatrics at the Johns Hopkins University School of Medicine. “At six months following their illness, all three still met the criteria for being diagnosed with ME/CFS.”

In a recent report, the U.S. Centers for Disease Control and Prevention (CDC) noted that U.S. hospitals are seeing more adolescents and young adults admitted with COVID-19 as more contagious variants of SARS-CoV-2 — the virus that causes the disease — spread. The agency believes that the youthful case surge may be the result of those ages 10 to 24 being among the last prioritized to get the coronavirus vaccines, and the fact that many who are eligible have yet to receive their shots. Also, the CDC says, this group is more likely to be involved in high-risk behaviors such as playing close-contact sports and going out to bars.

The three patients evaluated in the recent study were a 19-year-old man and two women, ages 22 and 30, whose COVID-19 symptoms began between April and June 2020, and who were referred to the Chronic Fatigue Clinic between August and October of the same year. Symptoms of orthostatic intolerance — a group of clinical conditions that includes fatigue, lightheadedness and difficulty concentrating, and are linked with greater than 90% of the people with ME/CFS — were prominent in all three from the outset of their COVID-19 illness.

A six-month post-COVID symptom onset examination, including evaluations of movement, neurological function and continued orthostatic intolerance, was conducted on each of the patients to determine if ME/CFS could be diagnosed. All three easily met the criteria.

Interestingly, Rowe says, all three patients had relatively mild COVID-19 respiratory symptoms and none required hospitalization, yet it appears to have translated into the more serious secondary problem of ME/CFS for them all.

“This finding is consistent with previous studies in older patients with COVID-19 who showed persistent fatigue months after infection, regardless of the severity of the initial infection,” he explains. “This raises the question of how many ME/CFS cases before the COVID-19 pandemic might have been due to mild, subclinical or asymptomatic viral infections [such as Epstein-Barr virus or human herpesvirus 6], including cases in adolescents, young adults and older people.”

Rowe and his colleagues feel that further research is needed to define the biological mechanism by which ME/CFS arises from COVID-19, and then use that insight to develop treatment strategies that can return patients with post-COVID ME/CFS back to their previous quality of life.

Rowe is available for interviews.

https://www.hopkinsmedicine.org/news/newsroom/news-releases/covid-19-story-tip-case-study-suggests-young-people-may-be-susceptible-to-chronic-fatigue-following-covid-19

Media Contact: Michael E. Newman, mnewma25@jhmi.edu

Adolescent and Young Adult ME/CFS After Confirmed or Probable COVID-19

Abstract:

Introduction: Fatigue is a common acute symptom following SARS-CoV-2 infection (COVID-19). The presence of persistent fatigue and impaired daily physical and cognitive function has led to speculation that like SARS-CoV-1 infection, COVID-19 will be followed by myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS).

Methods and Results: We describe three adolescent and young adult patients who had confirmed or probable COVID-19 infections early on during the pandemic and were referred for evaluation to the Chronic Fatigue Clinic at the Johns Hopkins Children’s Center. All patients reported orthostatic intolerance symptoms within the first 2 weeks of illness, and 10-min passive standing tests were consistent with postural tachycardia syndrome. After 6 months of illness, all three patients met criteria for ME/CFS. Clinical features of interest included strong histories of allergies in all three patients, two of whom had elevations in plasma histamine. Each demonstrated limitations in symptom-free range of motion of the limbs and spine and two presented with pathological Hoffman reflexes. These comorbid features have been reported in adolescents and young adults with ME/CFS.

Conclusion: ME/CFS can be triggered by COVID-19 in adolescents and young adults. Further work is needed to determine the pathogenesis of ME/CFS after COVID-19 and optimal methods of treating these patients. Our preliminary study calls attention to several comorbid features that deserve further attention as potential targets for intervention. These include neuromuscular limitations that could be treated with manual forms of therapy, orthostatic intolerance and POTS for which there are multiple medications and non-pharmacologic therapies, treatable allergic and mast cell phenomena, and neurologic abnormalities that may require specific treatment. Larger studies will need to ascertain the prevalence of these abnormalities.

Source: Petracek LS, Suskauer SJ, Vickers RF, Patel NR, Violand RL, Swope RL, Rowe PC. Adolescent and Young Adult ME/CFS After Confirmed or Probable COVID-19. Front Med (Lausanne). 2021 Apr 29;8:668944. doi: 10.3389/fmed.2021.668944. PMID: 33996867; PMCID: PMC8116546. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8116546/ (Full text)

Chronic Fatigue Syndrome and Bone Marrow Defects of the Jaw – A Case Report on Additional Dental X-Ray Diagnostics with Ultrasound

Abstract:

Purpose: This paper aims to demonstrate the additional benefit of ultrasound in the diagnosis of chronic osteolysis and osteonecrosis (bone marrow defects) of the jaw shown in a clinical case report.

Patients and methods: A case of chronic fatigue syndrome (CFS) in a young man presenting the typical, ambiguous symptoms, which were accompanied by headaches and tinnitus. X-ray techniques, namely panoramic radiographs (OPG) and cone beam computed tomography (DVT/CBCT), failed to produce any remarkable findings of bone marrow defects (BMDJ) in the jawbone. However, the measurement of bone density using trans-alveolar ultrasound (TAU) indicated a possible bone marrow defect in the lower left jawbone.

Results: Surgery was undertaken at the conspicuous area. Additional to softened, ischemic, fatty tissue, a black area was revealed, which was surprisingly subsequently identified as aspergillosis by histopathological analysis. In addition, the excessive local RANTES/CCL5 expression found in the affected area confirmed the necessity for surgical debridement and additional findings of TAU.

Conclusion: In contrast to radiography, complementary TAU imaging of the BMDJ revealed chronic inflammatory signaling RANTES/CCL5 pathways and fungal colonization. This case report supports the need for additional diagnostic techniques beyond radiographic modalities, which can help to elucidate the diagnostic composition and knowledge of the bone manifestations of systemic diseases.

Source: Lechner J, Schick F. Chronic Fatigue Syndrome and Bone Marrow Defects of the Jaw – A Case Report on Additional Dental X-Ray Diagnostics with Ultrasound. Int Med Case Rep J. 2021 Apr 19;14:241-249. doi: 10.2147/IMCRJ.S306641. PMID: 33907473; PMCID: PMC8064682. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8064682/ (Full text)

Case Report Life-Threatening Malnutrition in Very Severe ME/CFS

Abstract:

Very severe Myalgic Encephalomyelitis (ME), (also known as Chronic Fatigue Syndrome) can lead to problems with nutrition and hydration. The reasons can be an inability to swallow, severe gastrointestinal problems tolerating food or the patient being too debilitated to eat and drink. Some patients with very severe ME will require tube feeding, either enterally or parenterally. There can often be a significant delay in implementing this, due to professional opinion, allowing the patient to become severely malnourished. Healthcare professionals may fail to recognize that the problems are a direct consequence of very severe ME, preferring to postulate psychological theories rather than addressing the primary clinical need. We present five case reports in which delay in instigating tube feeding led to severe malnutrition of a life-threatening degree. This case study aims to alert healthcare professionals to these realities.

Source: Helen Baxter, Nigel Speight, andWilliam Weir. Case Report Life-Threatening Malnutrition in Very Severe ME/CFS. Healthcare 2021, 9(4), 459; https://doi.org/10.3390/healthcare9040459  https://www.mdpi.com/2227-9032/9/4/459 (Full text)

Dental considerations for a patient with Myalgic Encephalopathy/Chronic Fatigue Syndrome – a case study

Abstract:
Myalgic Encephalopathy, also known as Chronic Fatigue Syndrome (ME/CFS), is a chronic condition with: a range of fluctuating symptoms, no cure, and can cause a person to be bedbound. This case report identifies recommendations for dental care based on the experiences of a female 17 year-old living with severe ME/CFS.
Source: Halsall, Serena. (2019). Dental considerations for a patient with Myalgic Encephalopathy/Chronic Fatigue Syndrome – a case study. 20. 128-131. 10.443/JDOH.  https://www.researchgate.net/publication/337499185_Dental_considerations_for_a_patient_with_Myalgic_EncephalopathyChronic_Fatigue_Syndrome_-_a_case_study (Full text)

Successful Treatment of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome with Chronic Febricula Using the Traditional Japanese Medicine Shosaikoto

Abstract:

We herein report the case of a 14-year-old girl who had been experiencing chronic fatigue, febricula, and social withdrawal for 20 months. No notable abnormalities were identified during routine checkups at a general pediatric hospital; symptomatic treatments did not affect her condition. She was diagnosed with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS).

Based on the concepts of Japanese traditional medicine, she was administered shosaikoto-based treatment. After several weeks of treatment, all of the symptoms had been dramatically alleviated, consequently resolving the issue of non-attendance at school. Shosaikoto-based medication may be a therapeutic option for treating ME/CFS in patients presenting with chronic febricula.

Source: Numata T, Miura K, Akaishi T, Arita R, Ishizawa K, Saito N, Sasaki H, Kikuchi A, Takayama S, Tobita M, Ishii T. Successful Treatment of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome with Chronic Febricula Using the Traditional Japanese Medicine Shosaikoto. Intern Med. 2019 Sep 18. doi: 10.2169/internalmedicine.3218-19. [Epub ahead of print] https://www.ncbi.nlm.nih.gov/pubmed/31534083

Issues in Estimating Rates of Pediatric Chronic Fatigue Syndrome and Myalgic Encephalomyelitis in a Community-based Sample

Abstract:

There is a need to examine the prevalence of pediatric chronic fatigue syndrome (CFS) and Myalgic Encephalomyelitis (ME) in the general community, as well as the relative frequency of CFS and ME among various groups (e.g., different age groups, genders, racial/ethnic groups, and socioeconomic strata) and to compare these individuals with community controls.

In the present study, we describe an ongoing NIH-funded study, which uses a multiple-stage design, beginning with a brief screening for CFS- and ME-like symptomatology, followed by a more rigorous medical and psychiatric diagnostic evaluation to determine the prevalence of pediatric CFS and ME status in the general community. We provide two case studies showing the types of data we are collecting, and how the data are being used to inform diagnostic decisions.

 

Source: Jason LA, Katz BZ, Mears C, Jantke R, Brown A, Sunnquist M, O’Connor K. Issues in Estimating Rates of Pediatric Chronic Fatigue Syndrome and Myalgic Encephalomyelitis in a Community-based Sample. Avicenna J Neuropsychophysiol. 2015 Nov;2(4). pii: e37281. doi: 10.17795/ajnpp-37281. Epub 2015 Nov 21. https://www.ncbi.nlm.nih.gov/pubmed/28261672