Have you seen Medical Child Abuse?

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“Medical Child Abuse” is the favored term for what has been called Munchausen Syndrome by Proxy (and “Factitious disorder imposed on another”).  A recent case series with 36 cases (AZ Ali-Panzarella, TJ Bryant, H Marcovitch, JD Lewis. Curr Gastroenterol Rep 2017; 19: 14) provides some of the most extensive information about this troubling condition.  Kudos to my colleague Jeff Lewis and his coauthors for this publication.

The authors conducted a retrospective review of all cases of medical child abuse that were confirmed by video.  During a 20-year period, covert video monitoring was used in suspected cases. This study is important because most of the literature on this topic are single case reports.  Furthermore, there is virtually no published follow-up outcome data available.

Key demographics:

  • All abusers were the mothers
  • Age at diagnosis: 2 months to 17 years, median 2 years. 61% were under 5 years.
  • 91% were Caucasian
  • 72% were Medicaid recipients
  • Only 5 patients were diagnosed on first admission. 13 of 36 (36%) were diagnosed before 1 year of age.

Clinical features:

  • 38% had 5 or more admissions prior to diagnosis (possibly more at other institutions)
  • Median time between first hospitalization and diagnosis was 15 months
  • Primary symptoms in those less than a year: reflux, feeding difficulty, apnea, and seizure-like movements.  These were often induced by partial suffocation, forced feeding and induced vomiting.
  • Older children were reported often as having a past history of leukemia, muscular dystrophy, food allergy, recurrent infections, and mitochondrial disorders.
  • Due to their presentations, the cohort underwent 24 procedures and 9 surgeries (3 Nissen fundoplications, 1 pacemaker, 5 gastrostomy tubes, 3 ENT surgeries)
  • Two-thirds had pediatric gastroenterology involved prior to diagnosis.

Multidisciplinary Process:

  • Setting up covert surveillance and undertaking monitoring requires a team of individuals.  This is well-described in this article -see Table 1.
  • Before monitoring is allowed, a core group has a meeting to determine if monitoring is warranted in each case.
  • During monitoring, “it is critical to have staff observing in real time to allow an opportunity for bedside staff to be notified immediately and intervene in life-threatening events.”

19 references are given with this report.  Two references that are highlighted:

  • Pediatrics 2015; 136 (5): e1361-5.  Describes how induced illness can look like a rare disease
  • Pediatrics 2013; 132 (3): 590-7.  Guides pediatrician in diagnostic evaluation of medical child abuse

My take: Making a diagnosis of medical child abuse is crucial for these children.  This report makes an important contribution to this end.  Institutions that do not have covert surveillance should consider collaboration with institutions that have set up this capability.

Related blog post: A Cautionary Tale–Is it Medical Child Abuse?

Monet, Musee L’Orangerie

Abdominal Pain -Placebo Effect and Celiac Effect

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Briefly noted:

  • DR Hoekman et al. J Pediatr 2017; 182: 155-63.
  • M Saps et al. J Pediatr 2017; 182: 150-54.

In the first study, Hoekman et al identified 21 studies to determine the placebo response in pediatric abdominal pain-related functional GI disorders.  The authors found a pooled response to placebo of 41% (improvement) and resolution with placebo occurred in 17%.

The second study examined 289 children (55% U.S., 45% Italy) comparing the frequency of functional GI disorders in children with celiac disease on a gluten free diet compared with controls.  Overall, chronic abdominal pain was present in 30.9% of subjects with celiac disease compared with 22.7% of sibling controls and 21.6% of unrelated controls. This did not reach statistical significance.

Related post: Is functional pain more common with celiac disease?

Sawnee Mountain

Proof That Diet Changes Can Improve a Fatty Liver

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A recent prospective study (M Markova, O Pivovarova, et al. Gastroenterol 2017; 152: 571-85) showed that among individuals with nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes that a diet high in protein (animal or plant) reduced liver fat over a 6 week period.

Among 37 participants, body fat and intrahepatic fat were detected with MRI and spectroscopy, respectively. Protein was increased to 30% of the diet. Fat was reduced to 30% and carbohydrates to 40% of diet composition. .

Key findings:

  • With a high animal protein diet, liver fat was reduced by 36%.  In the high plant protein diet group, liver fat was reduced by 48%.
  • Theses changes were unrelated to change in body weight.  However, these changes were correlated with down-regulation of lipolysis and lipogenic indices.

Some of the findings may be limited to older patients as this cohort was older than 60 years of age.  In the pediatric population, the dietary factor that has been linked most closely to NAFLD has been fructose, mainly in sugar-sweetened beverages (R Patusco et al. Top Clin Nutr 2017; 32: 27-46 -thanks to Ben Gold for this reference).

My take: This study shows improvement in liver fat with increased protein/reduced dietary fat.  While this study indicates that dietary modification is important in treating NAFLD, the optimal dietary intervention (eg. higher protein, lower sugar, lower fat) remains uncertain.

Related posts:

 

Latiglutenase Not Effective for Celiac Disease, Plus One

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A recent study (JA Murray et al. Gastroenterol 2017; 152: 787-98) examined the effectiveness of  latiglutenase for celiac disease.  Latiglutenase (aka ALV003) is an oral medicine which is a mixture of two recombinant gluten-targeting proteases.

The concept of latigluenase is that a medicine that degrades the gluten protein could obviate the need for a gluten free diet.  Unfortunately, in this study with 494 patients with celiac disease for at least 1 year, the medicine at various doses for 12 to 24 weeks was ineffective. There was no difference between the medicine and placebo with regard to villous height:crypt depth ratio, number of intraepithelial lymphocytes or serologic markers of celiac disease.  Symptom scores increased in both the active treatment group and the placebo group.  While this was a negative study, the authors did note some effect on symptom domains on higher dosing regimens. “This observation suggests that treatment with latiglutenase may affect symptoms before showing clinically meaningful effects on serologic and histologic end points.

A second study (RS Choung et al. Gastroenterol 2017; 152: 830-9) examined prevalence and morbidity of undiagnosed celiac disease in Olmstead County. After excluding patients with celiac disease, sera from 30,425 adults and 830 children were tested for tissue transglutaminase IgA antibody (tTG)  and endomysial antibody (EMA).  Case definition: patients were considered to have celiac serologically if tTG titer was 2.0 U/mL or greater with a positive EMA. The prevalence of celiac disease was 1.1% in adults and 1.0% in children. The majority of patients with celiac disease (>80%) have not received the diagnosis.  By comparing those with positive celiac serology to matched controls (2 controls for each positive), the authors determined that undiagnosed celiac disease was associated with increased rates of hypothyroidism (OR 2.2) but no other significant morbidities.  Median followup period was 6.3 years.

My take: A promising new therapy for celiac disease, latiglutenase, looks like it will not be effective and there are a lot of individuals with celiac disease who are unaware of their diagnosis.

Related blog posts:

Disclaimer: These blog posts are for educational purposes only. Specific dosing of medications (along with potential adverse effects) should be confirmed by prescribing physician.  This content is not a substitute for medical advice, diagnosis or treatment provided by a qualified healthcare provider. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a condition.

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What Happens When Patients With ‘Gluten Sensitivity’ Are Challenged with Gluten?

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A recent review of double-blind, placebo-controlled trials (n=10) (J Molina-Infante, A Carroccio. Clin Gastroenterol Hepatol 2017; 15: 339-48) showed that most individuals who consider themselves to have nonceliac gluten sensitivity (NCGS) do not show gluten-specific symptoms.  Only 16% (38 of 231) showed symptoms specific to gluten ingestion.  In addition, the authors describe a 40% nocebo response (similar or increased symptoms in response to placebo).

My take: Due to the absence of a reliable test for NCGS, there are a lot of people who avoid gluten when gluten is not the main culprit for their symptoms.

On a related topic –NPR reports on colleges developing a New Niche -Gluten-free Dining Rooms.  An excerpt:

An estimated 5 to 10 percent of college students have celiac disease or other gluten-related disorders, according to Dr. Alessio Fasano, director of the Center for Celiac Research and Treatment in Boston…

There’s also a marketing angle in responding to the rising rate of gluten-related diagnoses. “Families tell us that Kent has become a top contender because this option exists

Also from NPR –For People With Celiac Disease -Could a Viral Infection Be a Trigger?

Related blog posts:

 

USPSTF Takes Neutral Stance on Celiac Disease Screening in Asymptomatic Individuals

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Full Text: JAMA. 2017;317(12):1252-1257. doi:10.1001/jama.2017.1462

From Abstract:

Objective  To issue a new US Preventive Services Task Force (USPSTF) recommendation on screening for celiac disease.

Evidence Review  The USPSTF reviewed the evidence on the accuracy of screening in asymptomatic adults, adolescents, and children; the potential benefits and harms of screening vs not screening and targeted vs universal screening; and the benefits and harms of treatment of screen-detected celiac disease. The USPSTF also reviewed contextual information on the prevalence of celiac disease among patients without obvious symptoms and the natural history of subclinical celiac disease.

Findings  The USPSTF found inadequate evidence on the accuracy of screening for celiac disease, the potential benefits and harms of screening vs not screening or targeted vs universal screening, and the potential benefits and harms of treatment of screen-detected celiac disease.

Conclusions and Recommendation  The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for celiac disease in asymptomatic persons. (I statement)

Winged Victory of Samothrace, 190 BC

FDA Approval of HCV Medications for Children, 12-17 years

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4/7/17:  FDA Okays Two Hepatitis C Drugs for Our Pediatric Patients

An excerpt:

The US Food and Drug Administration (FDA) today granted approval for supplemental applications for sofosbuvir (Sovaldi) and ledipasvir and sofosbuvir (Harvoni) to treat hepatitis C virus (HCV) in children ages 12 to 17…

Sovaldi, combined with ribavirin, is indicated to treat pediatric patients 12 years older or weighing at least 77 pounds (35 kilograms) with genotype 2 or 3 HCV infection without cirrhosis or with mild cirrhosis.   Harvoni is indicated for the treatment of pediatric patients 12 years and older or weighing at least 77 pounds (35 kilograms) with HCV genotype 1, 4, 5 or 6 infection without cirrhosis (liver disease) or with mild cirrhosis.   The approval for the new indication was based on an open-label, multicenter clinical trial including 100 pediatric patients 12 years and older looking at the safety, pharmacokinetics, and efficacy of Harvoni to treat HCV genotype 1 infection…

health care professionals should screen all patients for evidence of current or prior HBV infection before starting treatment with Harvoni or Sovaldi.

Celiac Titers and Likelihood of Celiac Disease

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A recent study (A Ermarth et al. Clin Gastroenterol Hepato 2017; 15: 396-402) retrospectively examined serology from 3555 pediatric patients who had intestinal biopsies, including 517 with celiac disease from a total of 30,413 with serologic testing These patients had their testing at a commercial lab (ARUP laboratiories). The authors note their regional prevalence of celiac disease was 1.7% of screened patients.

Table 1 lists the PPV, NPV, Sens, Spec based on the degree of elevation of the TTG IgA value.

Some examples:

  • If TTG IgA at 1-fold ULN, then PPV 61%, NPV 98%, Sens 90%, Spec 90%
  • If TTG IgA at 2-fold ULN, then PPV 79%, NPV 97%, Sens 82%, Spec 96%
  • If TTG IgA at 5-fold ULN, then PPV 93%, NPV 94%, Sens 62%, Spec 99%
  • If TTG IgA at 7-fold ULN, then PPV 96%, NPV 91%, Sens 41%, Spec 100%

Related blog links:

Sawnee Mountain

Liver Briefs -April 2017

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JA Flemming et al. Hepatology 2017; 65: 804-12.  This cohort study (2003-2015) of 47,591 adults wait-listed for liver transplantation, using the SRTR registry, showed that the era of direct-acting antivirals for hepatitis C was associated with a drop of 32% for HCV patients who were listed compared to the numbers listed during the interferon era.

AG Feldman et al. J Pediatr 2017; 182: 217-22. This retrospective study showed that elevated lactate levels (≥2.5 mmol/L) and elevated lactate to pyruvate ratio (≥25) were NOT predictive of mitochondrial diseases in pediatric patients who presented with acute liver failure.

AG Feldman et al. J Pediatr 2017; 182: 232-38. This retrospective cohort study showed a high rate of vaccine preventable illnesses (VPIs) following liver transplantation (n=2554), occurring in 1 of 6 liver transplant recipients. Most common infections was RSV; most common VPIs: rotavirus and influenza

Saint Chappelle, Paris

What Works for Itching?

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Two recent articles delve into the issue of pruritus associated with cholestasis:

  • JE Squires et al. JPGN 2017; 64: 425-430.
  • Thebaut et al. JPGN 2017; 64: 431-35.

In the first study, a single-center retrospective review of 8 patients with FIC1 disease who underwent partial exernal biliary diversion (PEBD) showed that all patients had resolution of chronic cholestasis (T bili <2 mg/dL) but 7 of 8 experience episodic cholestatic events. Pruritus improved but did not resolve.  PEBD did not obviate the need for aggressive fat-soluble vitamin supplements.

In the second study, the authors added sertraline to patients who had ongoing pruritus despite ursodeoxycholic acid and rifampin therapy.  Patients had either Alagille syndrome or PFIC (progressive familial intrahepatic cholestasis). Two patients had undergone PEBD. Sertraline was started at 1 mg/kg/day and increased as needed every two weeks to max of 4 mg/kg/day (median daily dose 2.2 mg/kg/day).  6 patients had adverse effects, including agitation (2), skin reactions (2), alopecia (1) and vomiting (1). Key finding:

  • 14 of 20 children had improved “itching score” from 8/10 to 5/10.  This correlated with improved sleep and less skin scratch marks.

 

Disclaimer: These blog posts are for educational purposes only. Specific dosing of medications/diets (along with potential adverse effects) should be confirmed by prescribing physician/nutritionist.  This content is not a substitute for medical advice, diagnosis or treatment provided by a qualified healthcare provider. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a condition.

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