Unsuspected Cause Research Articles

Clinical features of suspected and unsuspected fatal pulmonary emboli in hospitalized patients.

Pulmonary embolism (PE) is often unsuspected by treating clinicians. Since the adoption of clinical prediction scores for PE and the widespread availability of computed tomography (CT)-pulmonary angiogram, there are few reports of clinical presentations of hospitalized patients who died of PE. To compare the clinical signs, symptoms, and comorbidities of hospitalized patients who died of PE for whom PE was suspected versus not suspected antemortem. Case-control study from January 1999 to December 2018 in one Veterans Affairs (VA) hospital. We compared groups to examine differences in clinical presentations of fatal PE over the two decades. Among 1345 autopsies performed during the study period, 52 patients (4%) with fatal PE were included in the final analyses. PE was unsuspected before death in 29/52 patients (56%). Comparing groups, there were significant differences for: dyspnea (suspected 91%; unsuspected: 59%, p = 0.01); active malignancy (suspected 74%; unsuspected: 28%, p = 0.002); and atrioventricular (AV) nodal blocking treatment (suspected: 62%; unsuspected 30%,p= 0.03). A greater proportion of patients with unsuspected PE lacked symptoms of PE (suspected 0%; unsuspected: 31%, p = 0.003). Fatal PE remains a common, unsuspected cause of inpatient death in the modern era. Symptoms of PE, active malignancy, and potentially confounding AV nodal blocking treatment were less frequent in patients with unsuspected PE. These data highlight the variation in presentation and the challenge of making the diagnosis in many hospitalized patients, particularly those without typical symptoms.

P149 HYPERTENSION AS A SILENT KILLER: DOES OUR MANAGEMENT REACH THE RECOMMENDED TARGETS: SUDAN MMM 2022?

Introduction: Several explanations might address the failure of antihypertensive medications: poor compliance, excessive salt ingestion, drug interactions, or an unsuspected secondary cause for hypertension. Resistant hypertension, as an additional failure cause, is relatively rare, but all patients should be considered medically treatable until proven otherwise. Therefore, we aim to explore the blood pressure readings and the current control status in hypertensive Sudanese patients. Methods: Utilizing the MMM 2022 Sudan screening data, participants’ BP >18 years was measured using a standard device by trained physicians for three consecutive measures, and a single mean value was calculated excluding the first reading. Participants with a history of hypertension were included in the analysis. Continuous data was presented in mean and standard deviation, and categorical data was presented in frequencies and percentages. According to current guidelines, several antihypertensive medications used were counted for each patient. All participants completed a structured questionnaire after obtaining their approval. Results: The study included 2,292 participants with an established diagnosis of hypertension. The mean age at diagnosis was 46±13 years, around 60% were females, and the median duration of hypertension was 5 (2, 10) years. Of these, 936 (40.9%), 790 (34.5%), and 543 (23.7%) had blood pressure exceeding SBP≥140 mmHg, DBP≥90 mmHg, and BP≥140/90 mmHg, respectively. Table 1 shows the baseline characteristics for each group. Despite the guideline recommendations to control hypertension, 78 (14.4%) were not adherent to medications, and 56 (10.3%) were taking three or more antihypertensive drugs. Conclusions: BP screening enables future decisions to control hypertension-related burden. Adherence to the internationally recommended guidelines will lead to achieving BP targets and prevent undesired outcomes. The subgroup of resistant hypertensive patients needs close monitoring and appropriate medical evaluation.

An unsuspected cause of obstructive jaundice in an infant

An unsuspected cause of obstructive jaundice in an infant

Unusual features of neurosarcoidosis: A 18-year retrospective

BackgroundNeurosarcoidosis (NS) is a challenging diagnosis for clinicians and pathologists. NS most often presents with leptomeningeal involvement where it mimics infectious or neoplastic meningitis, and in up to half of cases, systemic signs of sarcoidosis are lacking. Rare presentations include dural-based mass(es) (mimicking meningioma), hypothalamic/sellar-based lesions (mimicking pituitary adenoma), or as myelopathy (mimicking tumor or neurodegenerative condition). For pathologists, the morphological effects of prior therapy are not well documented. NS as an unsuspected cause of demise today is even less well known. MethodsSearch of departmental databases and personal files, 2004–2022, for NS cases, with focus on the subset with features of interest to pathologists. Results22 cases were identified (8 M: 14F, 13–66 years), in 11 of which the CNS specimen represented first diagnosis of sarcoidosis. 20 were surgical and 2 were autopsy cases. Focus of the study revolved around 2 surgical cases with NS granulomas intimately admixed with tumor (1 meningoma, 1 gonadotroph pituitary adenoma/pituitary neuroendocrine tumor (PitNET). One surgical and one autopsy case each had decrease in lymphocytes and well-formed granulomas, with increased fibrosis and hemosiderin in post-treatment tissues. We speculate, but cannot prove, that this may be due to prior steroid therapy. Both autopsy cases were women (38, 43-years), both with cauda equina syndrome/ progressive weakness as first presentation, and extensive spinal cord/nerve root sarcoidosis at demise. First diagnosis of NS/sarcoidosis was at autopsy in the 38-year-old. ConclusionsUnusual features for pathologists are that NS can co-exist within benign tumors, prior therapy alters histological features, and even in the modern era, may be first diagnosed at autopsy.

Clarifying the Cause and Treatment of Paroxysmal Hypertension (Pseudopheochromocytoma).

To review the clinical characteristics of paroxysmal hypertension (pseudopheochromocytoma), its previously unsuspected cause, and effective treatment approaches. Patients with paroxysmal hypertension experience recurrent, sudden, unprovoked, symptomatic, and severe elevations of blood pressure that occur independently of current stress or perceived emotional distress. Recent findings point to a previously unsuspected psychosomatic etiology, linked in most to a past history of abuse, trauma, or prolonged severe stress, often with repression of pertinent emotions, or to a repressive coping style. Consistent with this understanding, treatment with an antidepressant is thus far the only pharmacologic intervention demonstrated to be effective in preventing recurrent paroxysms, and is effective in most patients. Other treatment approaches are discussed, including medications to acutely lower blood pressure during paroxysms, and, in some cases, the possibility of emotional healing. Recent findings indicate that paroxysmal hypertension is a psychosomatic disorder frequently linked to a past history of trauma or prolonged severe stress, usually with longstanding repression of pertinent emotions. Data strongly encourage treatment with an antidepressant in patients with recurrent or severe paroxysms. Further studies are needed.

Pulmonary artery pseudoaneurysm: an unsuspected cause of haemoptysis in post-COVID fungal infection of the chest

Pulmonary Artery Pseudoaneurysm (PAP) is a rare but potentially fatal cause of haemoptysis, which often remains unsuspected by both clinicians and radiologists.Traditionally, infections like tuberculosis and bacterial endocarditis have been associated with the development of PAPs. However, additional causative factors like trauma, neoplasia, pulmonary hypertension and vasculitis are also to be considered.With the advent of the novel Coronavirus (COVID-19), attempts have been undertaken to study its multisystem implications. Also, a strong correlation has also been established between COVID-19 and fungal infestation of the paranasal sinuses and lung parenchyma. Hence, PAP should be suspected in post-COVID patients who develop new-onset haemoptysis or new focal consolidation on imaging.Imaging investigations like chest radiograph, CT chest, and CT Pulmonary Angiography help in the establishment of a diagnosis and assessment of the relevant anatomy, which aid in the classification of the PAP. Management strategies include endovascular treatment, surgical resection or conservative approach in form of prolonged antimicrobial therapy. Interventional radiological procedures like endovascular embolisation are especially useful in vitally unstable cases of massive haemoptysis who are poor surgical candidates.Our case highlights the unique presentation of pulmonary arterial pseudoaneurysm induced by a post-COVID-19 fungal infection.

Vomiting in a toddler – An unsuspected cause

Vomiting in young children can be due to a varied etiology ranging from gastritis, urinary tract infection, and metabolic problems to serious life-threatening conditions such as myocarditis, intracranial space occupying lesions, and acute surgical conditions such as intussusception, malrotation, and torsion testis. However, intractable vomiting in a toddler as presented here was due to an unexpected cause as the history was not initially forthcoming for the same. Here, we presented the case of a 21-month-old girl who was admitted with vomiting and low-grade fever, initially suspected to have viral fever/urinary tract infection. All relevant investigations were within normal limits, ruling out metabolic causes. However, on day 3, she showed features of intestinal obstruction for which imaging was done which revealed a mass in the distal ileum, and she was taken up for immediate laparotomy and the ileal mass was excised, which turned out to be a foreign body, that is, three rubber balls. The child recovered completely post-surgery and was discharged three days later. Hence, the lessons learnt from this case would be that, there is no short cut to detailed history taking and meticulous clinical examination; using imaging at the appropriate time helps in timely intervention and life-saving management.

Large β Globin Gene Cluster Deletions and Implications on Transcription Factor Regulation in Hemoglobin Switching - Α Novel ε Gγ Αγ Deletion with Intact LCR

The εγδβ thalassemias (EGDBT) are infrequently occurring deletions of the β globin gene cluster on chromosome 11. EGDBTs can be an unsuspected cause of severe neonatal anemia that resolves during the first year of life into a normal Hb A2 thalassemic phenotype, presumed to be due to an imbalance of β-like chains during development. First described in 1972, they are categorized into two groups, both with loss of the five DNase I hypersensitivity sites upstream of the β gene (HBB) called the locus control region (LCR). In group 1 deletions, all or most of the β globin gene cluster including HBB is deleted; in group 2 deletions, removal of the LCR silences an intact HBB.Large deletions that do not involve LCR but remove the embryonic (HBE) and fetal genes (HBG2/HBG1) [LCR(ε Gγ Aγ) 0δβ] have not been reported. It is not known whether a deletion with intact LCR as well as δ and β genes would similarly manifest as neonatal anemia that resolves into a normocytic phenotype with normal hemoglobin fraction percentages after infancy.Four individuals with an LCR(ε Gγ Aγ) 0δβ deletion have been evaluated. These include monochorionic, diamniotic twin girls whose newborn screen (NBS) returned significant for Hb A percentage greater than Hb F for both twins. NBS was repeated two weeks later with the same result. The newborns were induced late pre-term (36 weeks and 6 days) after an uncomplicated pregnancy, including no features of twin to twin transfusion. Both infants had no anemia and bilirubin levels remained in the low to low-intermediate risk zones. Neither twin received transfusions or phototherapy during admission.At a follow up visit at 20 months of age a hemoglobin electrophoresis was performed which showed borderline Hb A2 and no Hb F in both twins (Table 1). Ferritin levels were low-normal in Twin A (14 µg/L) and low in Twin B (9 µg/L). Both infants were found to have a heterozygous large deletion affecting HBE, HBG2, HBG1, and HBBP1 loci by Multiplex Ligation-dependent Probe Amplification (MLPA), a method that uses multiple DNA probe pairs to determine the size of the DNA segment deleted. MLPA deletion/duplication testing on the α genes was negative. No β globin variants were identified by DNA sequencing. An evaluation was performed on the 25 year-old healthy mother and showed similar findings including the heterozygous large deletion. Mother and infants continue to be asymptomatic with normal red cell indices for age (Table 1).The fourth was an unrelated 40-year-old female with mild anemia screened by hemoglobin electrophoresis for obstetric evaluation who was found to have borderline Hb A2 (see table 1). MLPA showed a heterozygous deletion involving the same loci. Again, no β globin variants were identified by DNA sequencing.All four cases showed the same MLPA pattern except one non-specific probe commonly altered in common gamma gene conversion events. Long range sequencing performed on one case confirmed a single contiguous 32,599 bp deletion that matched the MLPA data (g.5262276-5294875). The detected deletion has not been reported in literature and differs from EGDBT mutations in that the LCR is intact. As the LCR controls expression of the entire gene cluster, this mutation is expected to display different phenotypic features than classic EGDBT. HBD and HBB are not deleted and therefore adequate transcription of Hb A2 and Hb A are expected with no imbalance of α/β chains after the neonatal period. It is postulated this finding explains the decreased Hb F levels in the NBS test result. The Hb A2 increase is likely a product of this deletion and does not indicate β-thalassemia.The heterozygous absence of HBE and HBG2/HBG1 may result in upregulation of HBD and HBB expression through loss of FKLF and FKLF-2 binding. In addition, HBB-EKLF binding would have less competition as the gamma promoter elements have been heterozygously deleted.In summary, in contrast to classic EGDBTs which cause transient severe neonatal anemia and resolve to normal Hb A2 thalassemic indices, this novel LCR(ε Gγ Aγ) 0δβ deletion was associated with normal CBC values with an absence of severe neonatal anemia, inverted Hb F/Hb A percentages at birth and borderline Hb A2 levels. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

An unsuspected and unrecognized cause of medication overuse headache in a chronic migraineur—essential oil-related medication overuse headache: A case report

Essential oils are widely used by people for common ailments like headache and backache. We report a case of chronic daily headache in an adolescent migraineur refractory to most antimigraine drugs secondary to topical application of essential oils containing camphor and eucalyptus. A 14-year-old boy presented with chronic daily headache of 1-year duration, refractory to four antimigraine drugs including valproate and topiramate. He was daily applying a balm called Amruthanjan (10% camphor and 14.5% eucalyptus) on his forehead to relieve headache. Patient had complete relief of headache in 2 weeks after stopping the balm application. All his antimigraine drugs were tapered and stopped over a period of 3 months. At 1-year follow-up, he is headache free. Brain-stimulant essential oils of camphor and eucalyptus may be an important unrecognized cause of medication overuse headache.

M207 AN UNUSUAL CASE OF A SERIOUS DIAGNOSIS MIMICKING UNCONTROLLED SEVERE PERSISTENT ASTHMA

A patient with progressive shortness of breath, dry cough, wheezing, tightness of the chest, may mimic uncontrolled asthma. A diagnosis of unsuspected cause such as mediastinal lymphoma might be delayed if a chest X-ray is not done.

Olfactory neuroblastoma (esthesioneuroblastoma) presenting as ectopic ACTH syndrome: always follow your nose.

ACTH-dependent hypercortisolism is caused by an ectopic ACTH syndrome (EAS) in 20% of cases. We report a rare cause of EAS in a 41-year-old woman, presenting with clinical features of Cushing's syndrome which developed over several months. Biochemical tests revealed hypokalemic metabolic alkalosis and high morning cortisol and ACTH levels. Further testing, including 24-hour urine analysis, late-night saliva and low-dose dexamethasone suppression test, confirmed hypercortisolism. An MRI of the pituitary gland was normal. Inferior petrosal sinus sampling (IPSS) revealed inconsistent results, with a raised basal gradient but no rise after CRH stimulation. Additional PET-CT showed intense metabolic activity in the left nasal vault. Biopsy of this lesion revealed an unsuspected cause of Cushing's syndrome: an olfactory neuroblastoma (ONB) with positive immunostaining for ACTH. Our patient underwent transnasal resection of the tumour mass, followed by adjuvant radiotherapy. Normalisation of cortisol and ACTH levels was seen immediately after surgery. Hydrocortisone substitution was started to prevent withdrawal symptoms. As the hypothalamic-pituitary-axis slowly recovered, daily hydrocortisone doses were tapered and stopped 4 months after surgery. Clinical Cushing's stigmata improved gradually. Ectopic ACTH syndrome can originate from tumours outside the thoracoabdominal region, like the sinonasal cavity. The diagnostic accuracy of IPSS is not 100%: both false positives and false negatives may occur and might be due to a sinonasal tumour with ectopic ACTH secretion. Olfactory neuroblastoma (syn. esthesioneuroblastoma), named because of its sensory (olfactory) and neuroectodermal origin in the upper nasal cavity, is a rare malignant neoplasm. It should not be confused with neuroblastoma, a tumour of the sympathetic nervous system typically occurring in children. If one criticises MRI of the pituitary gland because of ACTH-dependent hypercortisolism, one should take a close look at the sinonasal field as well.

Tullio phenomenon and drop attacks – An unsuspected cause

Tullio phenomenon or loudness intolerance is most commonly associated with superior semicircular canal dehiscence. We describe a patient presenting solely with this phenomenon and found to have an unsuspected cause. A 43-years-old gentleman presented to us complaining of intolerance to loud noise, occasionally leading to falls, for six months. These complaints were insidious in onset and steadily progressing. Interestingly, the intolerance in heavy traffic used to subside on wearing a helmet. There was no history of hearing loss, tinnitus, earache, or ear discharge. Clinical tests of hearing including Rinne, Weber and absolute bone conduction test were within normal limits. The neurologic as well as systemic examination was normal. Pure tone audiometry (PTA) showed mild conductive hearing loss in left ear and brainstem auditory evoked response (BAER) was normal. Patient’s skull radiograph showed multiple large lytic lesions giving the appearance of “geographical skull”. Chest X-ray showed a lytic lesion with pathological fracture involving posterior part of in left sided rib. Computed Tomography of head with bone window also showed multiple lytic lesions in skull (Figure 1,2). Brain parenchyma was normal. Incisional biopsy of one of the skull lesions was performed, which was consistent with a diagnosis of Langerhans cell histiocytosis (LCH) (Figure 3). The patient showed considerable improvement after being initiated on Etoposide and Vinblastine. LCH is a rare cause of Tullio phenomenon. It appears that the loss of skull tissue due to lytic lesions leads to impairment of “modifier” function of intact skull, resulting in “volume conduction” and noise intolerance.

Principles of interventional treatment in epistaxis

Epistaxis is acommon ear, nose, and throat emergency, but rarely adirect cause for hospital admission. Patients who receive inpatient treatment usually suffer from recurrent posterior epistaxis. Despite otolaryngologic measures such as posterior packing or surgery, bleeding may recur or continue or the source may not be surgically accessible. For these patients, endovascular therapy is a real, sometimes the only, treatment option. In addition to idiopathic causes of posterior epistaxis, the cause may also be symptomatic. In this case, the cause must be identified and treatment adapted accordingly. Pre-embolization CT of the paranasal sinuses and CT-angiography is useful. These methods can reveal the cause and location of the hemorrhage as well as significant vessel variants, anatomic anomalies, or an unsuspected cause of epistaxis. Overall, with a good understanding of the dangerous anastomoses, endovascular therapy for posterior epistaxis has high success rates with alow periprocedural risk.

UNCONTROLLED SEVERE PERSISTENT ASTHMA: MORE THAN MEETS THE EYE

Introduction Uncontrolled asthma can have multiple underlying factors that may be related to differential diagnoses, therapy, patient compliance, environmental exposure, or comorbid conditions. We present a case of poorly controlled asthma related to an unsuspected cause. Case Description A 68-year-old female was referred for uncontrolled asthma. She had asthma since childhood, previously controlled, but worsened over the past year with several exacerbations despite compliance with maximal daily therapy including fluticasone furoate/vilanterol 200/25 mcg, montelukast 10mg, theophylline 200 mg BID, prednisone 5 mg, ipratropium-albuterol 0.5-3 mg, and PRN albuterol MDI. She had several emergency department visits and one hospitalization a year ago. Chest CT showed scattered linear and patchy infiltrates, more in the RLL (Fig). During admission, sputum culture revealed Mycobacterium avium complex (MAC) infection and she was started on azithromycin, rifampin, and ethambutol which continued for 12 months with negative cultures. In the interim, she was started on omalizumab 300 mg every four weeks with slight improvement of symptoms, but declining FEV1 down to 0.79L (48% predicted). Only after completion of mycobacterial therapy that she exhibited marked improvement in symptoms with normalization of FEV1 1.66L (100%). Discussion Nontuberculous mycobacteria (NTM) are free living species that are universally prevalent in the environment. They can cause lymphadenitis, skin infection, soft tissue infection, or pulmonary disease, especially in those with underlying lung disease such as asthma, COPD or cystic fibrosis. Among NTM, MAC is the most common cause of pulmonary disease worldwide. This case illustrates an unusual cause of poorly controlled asthma that should be considered in the evaluation of such patients.

Amiodarone: A Newly Discovered Association with Bilateral Vestibulopathy.

Bilateral vestibulopathy (BVP) is a debilitating disorder characterized by the hypofunction of both vestibular end organs or nerves. The most frequent identifiable causes of BVP are ototoxic drug effects, infectious and autoimmune disorders. However, the majority of cases remain idiopathic. Very recently, the first discovery of a clinical case of Amiodarone-associated BVP has been reported. An overview of the literature concerning the relation between amiodarone toxicity and BVP is presented and discussed. Older reports on amiodarone-induced symptoms of vertigo and gait instability lack a description of vestibular function test results. Recent evidence from retrospective studies including vestibular function testing in patients taking amiodarone have identified the drug as the hitherto unsuspected potential cause of a relatively large proportion of cases with "idiopathic" BVP. Patients who receive amiodarone should be monitored with vestibular function testing in order to recognize potential adverse effects on the vestibular system and allow for an informed decision on possible drug reduction or withdrawal.

Retained orbito-sinal wooden foreign body as an unsuspected cause of epistaxis: A case report

We describe an unusual case of a orbito-sinal wooden stick lodged in ethmoid sinus in a 42 year old male with epistaxis which was undetected for 3 months. The foreign body (FB) was removed successfully by endoscopic approach without complications.

Accelerated atherosclerosis after renal transplantation: an unsuspected cause of uncontrolled hypertension.

Accelerated atherosclerosis after renal transplantation: an unsuspected cause of uncontrolled hypertension Ana Pinho,1,2 Susana Sampaio,2 Manuel Pestana,2,31Department of Nephrology, Faro Hospital, Faro, Portugal; 2Department of Nephrology, Hospital São João, Porto, Portugal; 3Medical School and Nephrology Research and Development Unit, University of Porto, Porto, PortugalAtherosclerotic cardiovascular disease (ASCVD) is the leading cause of mortality and death-censored graft loss after renal transplantation.1 Acute cardiovascular events have been reported as the principal clinical manifestations, but hypertension could be a form of ASCVD presentation, being able to promote its progression undetected.2

Tumor of follicular infundibulum: An unsuspected cause of macular hypopigmentation

We present three cases of a rare eruptive variant of tumor of follicular infundibulum. Two patients presented with hypopigmented macules. The clinical differential diagnoses considered in these two cases were vitiligo, lichen sclerosus et atrophicus, and idiopathic guttate hypomelanosis. In the third case, the lesions were hypopigmented flat topped maculo-papules diagnosed clinically as verruca plana. In all three cases, the histopathological features of plate like growth of pale keratinocytes connected to the epidermis and peritumoral condensation of elastic fibers were diagnostic. Although no satisfactory treatment is available, the exclusion of other clinical differential diagnosis particularly vitiligo with its psychosocial implications underscores the importance of skin biopsy.

Pharyngolaryngeal Reflux Simulating Vocal Fold Paralysis Hoarseness following Total Thyroidectomy

Objectives: Systemic multifocal fibrosclerosis is a syndrome characterized by the presence of fibrosis in various locations, most often retroperitoneal, mediastinal, and thyroid (Riedel thyroiditis). The fibrosis in the thyroid tissue can extend to the laryngeal cartilages and muscles, leading to respiratory distress. A thyroidectomy is, in these cases, an intervention to consider. Recognize potential “rare” causes of hoarseness following thyroid surgery. Method: Hoarseness case study. A 69 year old man presented to the ear, nose, and throat (ENT) consultation with a history of hoarseness and aspiration following total thyroidectomy for Riedel’s thyroiditis. Physical examination revealed exuberant pharyngolaryngeal reflux with consequent edema and redundancy of arytenoid mucosa with simetric mobility of the vocal folds. Results: Worsening dysphonia after total thyroidectomy, particularly in the context of Riedel thyroiditis, leads to suspicion of iatrogenic vocal fold paresis. The vocal fold preserved mobility, associated with signs of exuberant pharyngolaryngeal reflux with extensive mucosal damage, reveals an unsuspected cause of hoarseness. The authors postulate that post-operatory changes in esophagic sphincter pressure may have triggered reflux. Conclusions: Rare causes of hoarseness following thyroid surgery should be considered in order to promptly establish a correct treatment plan.

Spectrum of gluten-sensitive enteropathy in patients with dysmotility-like dyspepsia

BackgroundDysmotility-like dyspepsia symptoms are frequent in patients with gluten-sensitive enteropathy (GSE). Current data suggest that patients with mild enteropathy may be present with gluten-sensitive symptoms and complications. AimTo investigate the prevalence of GSE, including mild enteropathy, in patients with dysmotility-like dyspepsia symptoms. MethodsWe retrospectively studied 142 patients who presented dysmotility-like dyspepsia symptoms and normal upper gastrointestinal endoscopy. Endoscopic duodenal biopsies were taken and processed using hematoxylin–eosin staining and CD3 immunophenotyping. In patients with enteropathy (number of intraepithelial lymphocytes greater than 25 per 100 enterocytes) we also performed coeliac serology (anti-tissue transglutaminase IgA) and HLA-DQ2/DQ8 genotyping. A gluten-free diet was offered if one of these markers was positive. The final GSE diagnosis was established based on clinical and histopathological response to the gluten-free diet after 18 months of follow-up. ResultsFifty-one patients (35.9%) had enteropathy; 4 (2.8%) Marsh type 3b, 24 (16.9%) Marsh type 3a, 3 (2.1%) Marsh type 2, and 20 (14.1%) Marsh type 1. A positive serology result was extremely low (6.7%) in mild enteropathy (Marsh type 1–3a) in contrast with Marsh type 3b patients (50%). Most patients with enteropathy had positive HLA DQ2 or -DQ8 genotyping (84.1%). Out of the 37 patients who started a gluten-free diet, 34 (91.9%) improved their symptoms, and 28 of 32 (87.5%) had a histopathological or serological response. A final GSE diagnosis was established in 28 of the 142 patients (19.7%). ConclusionGluten-sensitive enteropathy can be a frequent and unsuspected cause of dysmotility-like dyspepsia.