Unusual presentation: pulmonary hemosiderosis with celiac disease and retinitis pigmentosa in a child

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease characterized by anemia, hemoptysis and recurrent alveolar hemorrhage. The combination of IPH and celiac disease (CD) is extremely rare. We report a 9-year-old boy with Lane-Hamilton syndrome, co-occurrence of pulmonary hemosiderosis with CD. This presentation is unique presentation because he has also retinal pigmentation.     

Celiac disease and pulmonary hemosiderosis in a patient with chronic granulomatous disease

We report on a patient with the hitherto undescribed combination of chronic granulomatous disease, pulmonary hemosiderosis, and celiac disease. The hemosiderosis resolved with a gluten-free diet and glucocorticosteroid pulse therapy, but the restrictive lung function pattern remained unchanged. Lung function improved markedly by immunosuppression with daily glucocorticosteroid and azathioprine treatment.     

Maintenance therapy with dose-adjusted 6-mercaptopurine in idiopathic pulmonary hemosiderosis

There are challenges for diagnosis and treatment of idiopathic pulmonary hemosiderosis (IPH). This clinical trial was to review the diagnosis and evaluate the efficacy of maintenance therapy with dose-adjusted 6-mercaptopurine (6MP) in IPH children. Fifteen children were enrolled. Prednisone was administered at 2 mg/kg/day for 4 weeks in acute phase of the disease followed by taper. 6MP was also started at 60 mg/m(2)/day simultaneously and continued for 3 years in outpatient. The delay in diagnosis of IPH is common and probably due to a lack of classical triad of IPH in most children. All the patients exhibited response to the initial treatment. Only one of eight patients with relative leukopenia on 6MP maintenance recurred while 5 of 7 others recurred (P < 0.05) during median 4.5-year follow-up. Of the latter five patients who recurred, 4 remained recurrence-free after adjusting the dose of 6MP upwards to keep relative leucopenia. It suggests that children with IPH could achieve steroid-free long term remission on 6MP maintenance therapy, and relative leukopenia on 6MP might be a simple maker of predicting clinical response in most IPH children.     

The effect of biopsy‐positive silent coeliac disease and treatment with a gluten‐free diet on growth and glycaemic control in children with Type 1 diabetes

Objective To determine the effect of coeliac disease and treatment with a gluten‐free diet on growth and glycaemic control in asymptomatic children with Type 1 diabetes. Methods Data were compared in children with coeliac disease diagnosed by annual antibody screening and jejunal biopsy and treated with a gluten‐free diet (n = 49) against individuals who were antibody negative (n = 49) matched for age, sex and duration of diabetes. Results No differences in growth were observed. In the years prior to diagnosis of coeliac disease, mean glycated haemoglobin (HbA_1c) was lower in cases compared with control subjects [8.3 ± 1.1% vs. 8.7 ± 0.9%, P = 0.02 (mean ± sd )]. In cases, HbA_1c deteriorated 12 months from the start of a gluten‐free diet to levels similar to control subjects (8.9 ± 1.5% vs. 8.8 ± 1.5%, P‐value for analysis of variance = 0.9). In regression analysis, the diagnosis of coeliac disease and start of a gluten‐free diet was associated with a rise in HbA_1c in the first year of treatment [odds ratio 1.56 (95% confidence intervals 1.16–2.10), P = 0.003] after adjusting for insulin dose and regimen and other variables. Conclusions In children with Type 1 diabetes, lower HbA_1c prior to diagnosis of silent coeliac disease rises following treatment with a gluten‐free diet to levels similar to those without coeliac disease. Although unproven, these observations may relate to abnormalities at the small bowel mucosa before the appearance of circulating coeliac antibodies.     

Non-responsive celiac disease in children on a gluten free diet

BACKGROUNDNon-responsive celiac disease (NRCD) is defined as the persistence of symptoms in individuals with celiac disease (CeD) despite being on a gluten-free diet (GFD). There is scant literature about NRCD in the pediatric population.AIMTo determine the incidence, clinical characteristics and underlying causes of NRCD in children.METHODSRetrospective cohort study performed at Boston Children’s Hospital (BCH). Children < 18 years diagnosed with CeD by positive serology and duodenal biopsies compatible with Marsh III histology between 2008 and 2012 were identified in the BCH’s Celiac Disease Program database. Medical records were longitudinally reviewed from the time of diagnosis through September 2015. NRCD was defined as persistent symptoms at 6 mo after the initiation of a GFD and causes of NRCD as well as symptom evolution were detailed. The children without symptoms at 6 mo (responders) were compared with the NRCD group. Additionally, presenting signs and symptoms at the time of diagnosis of CeD among the responders and NRCD patients were collected and compared to identify any potential predictors for NRCD at 6 mo of GFD therapy.RESULTSSix hundred and sixteen children were included. Ninety-one (15%) met criteria for NRCD. Most were female (77%). Abdominal pain [odds ratio (OR) 1.8 95% confidence interval (CI) 1.1-2.9], constipation (OR 3.1 95%CI 1.9-4.9) and absence of abdominal distension (OR for abdominal distension 0.4 95%CI 0.1-0.98) at diagnosis were associated with NRCD. NRCD was attributed to a wide variety of diagnoses with gluten exposure (30%) and constipation (20%) being the most common causes. Other causes for NRCD included lactose intolerance (9%), gastroesophageal reflux (8%), functional abdominal pain (7%), irritable bowel syndrome (3%), depression/anxiety (3%), eosinophilic esophagitis (2%), food allergy (1%), eating disorder (1%), gastric ulcer with Helicobacter pylori (1%), lymphocytic colitis (1%), aerophagia (1%) and undetermined (13%). 64% of children with NRCD improved on follow-up.CONCLUSIONNRCD after ≥ 6 mo GFD is frequent among children, especially females, and is associated with initial presenting symptoms of constipation and/or abdominal pain. Gluten exposure is the most frequent cause.     

Original research: Telephone clinic improves gluten-free dietary adherence in adults with coeliac disease: sustained at 6 months

BackgroundA gluten-free (GF) diet is the only treatment for coeliac disease (CD), non-adherence to the diet is associated with greater morbidity. The study aimed to examine the effect of a telephone clinic, designed to increase GF dietary knowledge and adherence, in adults with CD.MethodsA prospective study of 125 patients with histologically confirmed CD. Patients, not adhering to a GF diet (n=30), engaged in a personalised telephone clinic. Validated questionnaires were used to assess GF dietary adherence (Coeliac Disease Adherence Test; CDAT), knowledge of GF foods and CD-related quality of life (QoL). GF dietary adherence was assessed up to 12 months post telephone clinic. The control group completed the questionnaires only.ResultsGF dietary adherence (CDAT) median scores significantly improved at 3 and 6 months after the telephone clinic compared with baseline (16, 13 and 13, respectively, p<0.01). Reassuringly, the dietary burden QoL score remained similar to baseline values. No change in CDAT scores were observed in the control group. Change in GF dietary knowledge score was associated with improved GF dietary adherence CDAT score (r=−0.22; p=0.039). At 9 and 12 months, CDAT scores were similar to baseline values.ConclusionsTelephone clinics have a positive impact on dietary knowledge and GF dietary adherence in adults with CD, promoting health-benefitting behaviours in those previously not adhering to a GF diet. The study highlights the need for patients to have regular follow-up, with targeted reviews for those not adhering to a GF diet.     

Small intestinal bacterial overgrowth among patients with celiac disease unresponsive to a gluten free diet

Background/AimsLittle is known about the relationship between small intestinal bacterial overgrowth (SIBO) and celiac disease (CeD) in patients who are unresponsive to a gluten-free diet (GFD). This study aimed to determine the SIBO prevalence in patients with CeD who are unresponsive to a GFD.Materials and MethodsWe conducted a case-control study from July 2012 to September 2014. We included 32 patients with CeD who were unresponsive to a GFD and 52 healthy age- and sex-matched controls. Demographic, clinical, and laboratory data were obtained from patients’ medical records. Antitissue transglutaminase antibody determined by enzyme-linked immunosorbent assay was recorded, and lactulose hydrogen breath test (LHBT) was used to detect SIBO in all participants. Microbiological analysis, including jejunal aspirates obtained using upper endoscopy, was performed for only 20 patients with CeD.ResultsA total of 10 (31%) of 32 patients with CeD and 4 (7.7%) of 52 controls tested positive for LHBT, with a statistically significant difference (p=0.007). Of 20 cultures, 3 (15%) were positive with no statistically significant correlation between the cultures and LHBT (p=0.05). In a subgroup analysis of children who were 18 years old or younger, 7/24 (29.2%) patients with CeD had a positive LHBT compared with 3/32 (9.4%) controls, but this difference was not statistically significant (p=0.08).ConclusionThe prevalence of SIBO was 31% in unresponsive patients with CeD according to LHBT and 15% in the quantitative culture of the jejunal aspirate, which is comparable with the published Western literature     

Lung transplant to manage end-stage lung disease due to idiopathic pulmonary hemosiderosis: A review of the literature

Idiopathic pulmonary hemosiderosis (IPH) is a rare immunological disease with a genetic predisposition. It is characterized by recurrent episodes of diffuse alveolar hemorrhage (DAH). Timely use of immunosuppressive medications has significantly improved overall outcomes, including mortality. Still, uncontrolled and frequent episodes of DAH can eventually cause pulmonary fibrosis, leading to end-stage lung disease (ESLD). The objective of the present project was to scrutinize the literature and summarize the demographic, clinical, radiological, and histopathological features, as well as the overall outcomes, in this patient population following lung transplant.The Medline database was searched using the PubMed platform. Articles published in English between 1960 and 2020 were included in the search. Different search terms were used to identify all patients who underwent lung transplantation to manage ESLD due to IPH.Only four cases of lung transplantation have been reported in the literature in patients with IPH. All but one of these underwent deceased donor lung transplant; recurrence was reported in two of these patients and suspected in the third. One patient received living donor lung transplant and had no recurrence during a five-year follow-up. Patients with IPH should not be excluded from lung transplantation because the disease may not recur in all patients, and even when it does recur it can be promptly treated by increasing immunosuppression.     

Prevalence of celiac disease in the Asia–Pacific region

The development of sensitive and specific serological assays for celiac disease has led to a revision of the prevalence of this disease in many countries. In the Asia–Pacific region, prevalence has been determined in only a minority of countries but those with prevalence rates of 1:50–1:500 adults include Australia, Iran, Israel, New Zealand, Syria and Turkey. In contrast, celiac disease appears to be extremely rare in Japan and may be rare in China. In India, prevalence rates are high in the northern states but much lower in the southern states. In individual countries, important determinants of prevalence include the per capita consumption of wheat and the frequency of a specific human leukocyte antigen (HLA) type genetically defined as HLA-DQB1*02 (* 0201 or * 0202 ) and serologically defined as HLA-DQ2. These determinants predict low prevalence rates for celiac disease in the Pacific Islands, South-East Asia and eastern China but higher rates in countries west of India and China. There is also the potential for a rising incidence of celiac disease if traditional rice-based diets are replaced by Western-style diets with a higher content of wheat products.