Tag: misdiagnoses

Primary haemochromatosis: a missed cause of chronic fatigue syndrome?

Abstract:

OBJECTIVE: To determine whether patients previously diagnosed as chronic fatigue syndrome (CFS) actually have primary haemochomatosis (PH).

METHODS: The setting was a Dutch referral centre. Transferrin saturation (TS) was retrospectively evaluated in banked blood samples of 88 patients diagnosed as CFS. Patients with elevated TS values were asked to provide a new overnight fasting blood sample for a second determination of TS and measurement of serum ferritin. The DNA was investigated for mutations in the HFE gene when one of these iron parameters was elevated.

RESULTS: For 19 out of 88 patients with CFS an elevated TS was found. A new blood sample was obtained from 11 of these 19: six had increased TS and two had elevated serum ferritin values. These eight patients were neither C282Y homozygotes nor compound C282Y-H63D heterozygotes. In the eight cases where no new blood samples could be obtained, the TS was > 50% for two of the five men and < 45% for the three female patients.

CONCLUSION: In a group of 88 CFS patients we could exclude PH in all but two of them (prevalence 2.3%; 95% confidence interval 0-5.5%). In our population of CFS patients PH is not more common than in a control population of northern European descent (prevalence 0.25-0.50%).

Comment in: Prevention of organ failure in hereditary haemochromatosis. [Neth J Med. 2002]

 

Source: Swinkels DW, Aalbers N, Elving LD, Bleijenberg G, Swanink CM, van der Meer JW. Primary haemochromatosis: a missed cause of chronic fatigue syndrome? Neth J Med. 2002 Dec;60(11):429-33. http://www.ncbi.nlm.nih.gov/pubmed/12685490

 

Prevention of organ failure in hereditary haemochromatosis

Abstract:

In this editorial the dominant sites of organ manifestations in hereditary haemochromatosis are discussed as well as conditions that can occur as a result of iron-mediated manifestations: liver disease, diabetes mellitus, arthritis, and cardiomyopathy. The incidences of these organ manifestations and their well-known typical symptomatology are mentioned, in order to investigate hereditary haemochromatosis as a possible (missed?) cause of the chronic fatigue syndrome. In particular the limitations of most studies about the prevalence of hereditary haemochromatosis in patients with the chronic fatigue syndrome are clearly summarised.

Comment on: Primary haemochromatosis: a missed cause of chronic fatigue syndrome? [Neth J Med. 2002]

 

Source: Marx JJ. Prevention of organ failure in hereditary haemochromatosis. Neth J Med. 2002 Dec;60(11):419-22. http://www.ncbi.nlm.nih.gov/pubmed/12685487

 

Chronic fatigue syndrome. More and more differential diagnoses suggest a new view of this syndrome

Abstract:

The diagnosis of chronic fatigue syndrome (CFS) requires a number of symptoms beyond chronic fatigue, according to the criteria developed in 1994 by the US Centers for Disease Control (CDC) International CFS Study Group. CFS is thus no synonym for chronic fatigue but rather an unusual syndrome afflicting no more than 0.1% of the population. Several CFS definitions have been developed over the years, and it is common for investigators to erroneously compare studies based on different definitions, which nevertheless all use the term CFS. Much of our “understanding” of CFS does not apply to the small group of patients who fulfill the current (1994) CDC definition (above). Recent studies have shown that a number of somatic diseases can present with CFS symptoms and thus be misdiagnosed as CFS. This review presents a list of such differential diagnoses, mainly chronic infections, endocrine diseases, and allergies. In view of these differential diagnoses (1) investigation and therapy must be individualized, and (2) we should offer rehabilitation where different specialists work as a coordinated team.

Comment in:

Chronic fatigue syndrome is a condition still without medical explanation. [Lakartidningen. 2002]

Chronic fatigue belongs to the emotional life’s domains. [Lakartidningen. 2002]

Research on chronic fatigue syndrome face to face with a paradigm shift. [Lakartidningen. 2002]

 

Source: Merz S. Chronic fatigue syndrome. More and more differential diagnoses suggest a new view of this syndrome. Lakartidningen. 2002 Aug 22;99(34):3282-7. [Article in Swedish] http://www.ncbi.nlm.nih.gov/pubmed/12362846

 

Brainstem conundrum: the Chiari I malformation

Abstract:

PURPOSE: To describe the Chairi I Malformation in relation to the anatomy of the brain and spinal cord, the common manifestations of the condition, diagnostic considerations, and management for the primary care provider.

DATA SOURCES: Extensive review of the world-wide scientific literature on the condition, supplemented with actual case studies.

CONCLUSIONS: The adult Chairi I Malformation is an insidious congenital brainstem anomaly that consists of caudal displacement of the cerebellar tonsils, brainstem and fourth ventricle into the upper cervical space, resulting in overcrowding of the posterior fossa.

IMPLICATIONS FOR PRACTICE: Due to the vague, and often ambiguous presenting symptoms of Chiari I Malformation, many patients are misdiagnosed with conditions such as multiple sclerosis, fibromyalgia, chronic fatigue syndrome, or psychiatric disorders. Patients frequently experience symptoms months to years prior to accurate diagnosis and often incur irreversible neurologic deficits.

 

Source: Mueller D. Brainstem conundrum: the Chiari I malformation. J Am Acad Nurse Pract. 2001 Apr;13(4):154-9. http://www.ncbi.nlm.nih.gov/pubmed/11930527

 

Familial corticosteroid-binding globulin deficiency due to a novel null mutation: association with fatigue and relative hypotension

Abstract:

Corticosteroid-binding globulin is a 383-amino acid glycoprotein that serves a hormone transport role and may have functions related to the stress response and inflammation. We describe a 39-member Italian-Australian family with a novel complete loss of function (null) mutation of the corticosteroid-binding globulin gene. A second, previously described, mutation (Lyon) segregated independently in the same kindred. The novel exon 2 mutation led to a premature termination codon corresponding to residue -12 of the procorticosteroid-binding globulin molecule (c.121G–>A).

Among 32 family members there were 3 null homozygotes, 19 null heterozygotes, 2 compound heterozygotes, 3 Lyon heterozygotes, and 5 individuals without corticosteroid-binding globulin mutations. Plasma immunoreactive corticosteroid-binding globulin was undetectable in null homozygotes, and mean corticosteroid-binding globulin levels were reduced by approximately 50% at 18.7 +/- 1.3 microg/ml (reference range, 30-52 microg/ml) in null heterozygotes. Morning total plasma cortisol levels were less than 1.8 microg/dl in homozygotes and were positively correlated to the plasma corticosteroid-binding globulin level in heterozygotes. Homozygotes and heterozygote null mutation subjects had a high prevalence of hypotension and fatigue.

Among 19 adults with the null mutation, the systolic blood pressure z-score was 12.1 +/- 3.5; 11 of 19 subjects (54%) had a systolic blood pressure below the third percentile. The mean diastolic blood pressure z-score was 18.1 +/- 3.4; 8 of 19 subjects (42%) had a diastolic blood pressure z-score below 10.

Idiopathic chronic fatigue was present in 12 of 14 adult null heterozygote subjects (86%) and in 2 of 3 null homozygotes. Five cases met the Centers for Disease Control criteria for chronic fatigue syndrome. Fatigue questionnaires revealed scores of 25.1 +/- 2.5 in 18 adults with the mutation vs. 4.2 +/- 1.5 in 23 healthy controls (P < 0.0001).

Compound heterozygosity for both mutations resulted in plasma cortisol levels comparable to those in null homozygotes. Abnormal corticosteroid-binding globulin concentrations or binding affinity may lead to the misdiagnosis of isolated ACTH deficiency. The mechanism of the association between fatigue and relative hypotension is not established by these studies. As idiopathic fatigue disorders are associated with relatively low plasma cortisol, abnormalities of corticosteroid-binding globulin may be pathogenic.

 

Source: Torpy DJ, Bachmann AW, Grice JE, Fitzgerald SP, Phillips PJ, Whitworth JA, Jackson RV. Familial corticosteroid-binding globulin deficiency due to a novel null mutation: association with fatigue and relative hypotension. J Clin Endocrinol Metab. 2001 Aug;86(8):3692-700. http://www.ncbi.nlm.nih.gov/pubmed/11502797

 

High prevalence of serum markers of coeliac disease in patients with chronic fatigue syndrome

There has been recent interest in the possibility that undiagnosed coeliac disease (CD) might be the cause of diverse clinical symptoms, most particularly “tired all the time”.1 A recent study reported a prevalence of three in 100 cases in a primary care environment in which samples were taken from patients with a range of symptoms and signs.2 The second most frequent symptom reported by the endomysial antibody (EMA) positive patients was “being tired all the time”. We decided to examine the prevalence of EMA in patients attending our tertiary referral centre with the diagnosis of chronic fatigue syndrome (CFS).

You can read the rest of this article here: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731400/pdf/v054p00335a.pdf

 

Source: Skowera A, Peakman M, Cleare A, Davies E, Deale A, Wessely S. High prevalence of serum markers of coeliac disease in patients with chronic fatigue syndrome. J Clin Pathol. 2001 Apr;54(4):335-6. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731400/ (Full article)

 

Diagnosis of psychiatric disorder in clinical evaluation of chronic fatigue syndrome

Abstract:

The overlap of symptoms in chronic fatigue syndrome (CFS) and psychiatric disorders such as depression can complicate diagnosis. Patients often complain that they are wrongly given a psychiatric label. We compared psychiatric diagnoses made by general practitioners and hospital doctors with diagnoses established according to research diagnostic criteria.

68 CFS patients referred to a hospital fatigue clinic were assessed, and psychiatric diagnoses were established by use of a standardized interview schedule designed to provide current and lifetime diagnoses. These were compared with psychiatric diagnoses previously given to patients. Of the 31 patients who had previously received a psychiatric diagnosis 21 (68%) had been misdiagnosed: in most cases there was no evidence of any past or current psychiatric disorder. Of the 37 patients who had not previously received a psychiatric diagnosis 13 (35%) had a treatable psychiatric disorder in addition to CFS.

These findings highlight the difficulties of routine clinical evaluation of psychiatric disorder in CFS patients. We advise doctors to focus on subtle features that discriminate between disorders and to use a brief screening instrument such as the Hospital Anxiety and Depression Scale.

 

Source: Deale A, Wessely S. Diagnosis of psychiatric disorder in clinical evaluation of chronic fatigue syndrome. J R Soc Med. 2000 Jun;93(6):310-2. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1298034/ (Full article)

 

Does severe nutcracker phenomenon cause pediatric chronic fatigue?

Abstract:

BACKGROUND: In the past five years we experienced 9 fatigued disabled children who were intermittently or persistently absent from school.

PATIENTS: They had been suspected to be burdened with psychosomatic disorders, having orthostatic hypotension, postural tachycardia, or other autonomic dysfunction symptoms.

RESULTS: Investigating the cause of moderate orthostatic proteinuria in some of them, we found by chance severe typical nutcracker phenomenon (NC), which was present in all 9 children complaining of chronic fatigue.

CONCLUSION: Their symptoms filled the criteria of chronic fatigue syndrome or idiopathic chronic fatigue (CFS/CF). An association between severe NC and autonomic dysfunction symptoms in children with CFS/CF has been presented.

Source: Takahashi Y, Ohta S, Sano A, Kuroda Y, Kaji Y, Matsuki M, Matsuo M. Does severe nutcracker phenomenon cause pediatric chronic fatigue? Clin Nephrol. 2000 Mar;53(3):174-81. http://www.ncbi.nlm.nih.gov/pubmed/10749295

Recognition of chronic carbon monoxide poisoning

Abstract:

Chronic exposure to low levels of carbon monoxide can cause vague symptoms that are easily mistaken for other common illnesses. During the past 5 years, three families have contacted the Wisconsin Division of Public Health to report illnesses that may have been caused by chronic exposure to carbon monoxide. Members of these families were diagnosed with a variety of conditions including chronic fatigue syndrome, depression and influenza. Carbon monoxide exposure was not suspected as a cause of these illnesses until heating contractors discovered that gas appliances in these families’ homes were not properly vented. These cases serve as reminders that carbon monoxide exposure should be considered in the differential diagnosis of patients who present with chronic symptoms of headache, fatigue, dizziness, nausea and mental confusion–especially when these symptoms onset during the winter heating season.

 

Source: Knobeloch L, Jackson R. Recognition of chronic carbon monoxide poisoning. WMJ. 1999 Sep-Oct;98(6):26-9. http://www.ncbi.nlm.nih.gov/pubmed/10605352

 

Three cases of dermatomyositis erroneously diagnosed as “chronic fatigue syndrome”

Abstract:

The authors report three cases of dermatomyositis, which ha been erroneously diagnosed as “chronic fatigue syndrome” due to the presence of elevated titers of serum anti-Epstein Barr antibodies.

 

Source: Fiore G, Giacovazzo F, Giacovazzo M. Three cases of dermatomyositis erroneously diagnosed as “chronic fatigue syndrome”. Eur Rev Med Pharmacol Sci. 1997 Nov-Dec;1(6):193-5. http://www.ncbi.nlm.nih.gov/pubmed/9718854