Picture Quiz: Intestinal Cause of Edema

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Link to full text from AGA twitter feed:  A Rare Cause of Generalized Edema

Background: “A 19-year-old boy presented to our hospital because of a 6-month history of progressive dyspnea and generalized edema. He developed cough, abdominal fullness, diarrhea, and leg edema 5 years ago. Liver cirrhosis was suspected at that time…Chest radiography showed bilateral pleural effusions (Figure A). Abdominal computed tomography demonstrated large amount of ascites (Figure B). … Subsequently, antegrade double-balloon enteroscopy …demonstrated nodular mucosal lesions with a milk-like surface in the duodenum (Figure C). Moreover, snow flake appearance of mucosa was found in the jejunum and proximal ileum (Figure D). However, a normal appearance of mucosa was identified in the middle ileum (Figure E).”

The Answer: 

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“Histologic examination shows chronic inflammation of the ileum characterized by increased lymphoplasma cell infiltration of lamina propria without malignancy. Moreover, marked dilatation of lymphatic ducts that involved the mucosa was identified (Figure F)… a diagnosis of primary intestinal lymphangiectasia (PIL) was made.

Eating Tips from Strong4Life Website

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Our hospital has been working on childhood obesity and has developed a multifaceted program called “Strong4Life.”  Recently the associated website has added some useful content for families.

From recent Children’s Healthcare of Atlanta email:

New Feeding and Wellness Resources for Parents

Children’s has launched a new feeding and wellness resource section on its dedicated parenting website, Strong4Life.com. The site is full of articles, videos and tools that new parents will find essential. From birth through school-age, Strong4Life equips parents to deal with everything from bedtime battles and mealtime tantrums, to food parenting and picky eating, and everything in between. With filtering of content by age of child, parents can now access relevant, easy-to-try tips, facts and advice from Children’s doctors, registered dietitians and wellness experts, who are also parents.

A sampling of the many articles and videos can be found here:

Other recommendations from Strong4Life:

Added Sugars
In August, the American Heart Association released its recommendations on the consumption of added sugars for children ages two to 18 years old. Children in this age range should not consume more than six teaspoons or 25 grams of added sugar per day; and children under age two should avoid it altogether. To learn where sugar may be hiding in children’s diets and simple ways to avoid it, visit strong4life.com/sugar.

Screen Time
The American Academy of Pediatrics (AAP) fine-tuned their screen time guidelines, to align better with the digital world we live in:

  • Children 18 to 24 months—no screen time other than video chatting. If digital media is introduced, focus on high-quality programming/apps, and parents should co-view with their child
  • Children 2 years and older—limit digital media to one (1) hour or less per day, of high quality programming
  • All children—keep meals, bedrooms and playtimes screen-free

frogsinfront

Making Doctors Yelp?

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Yelp definition: “a short sharp cry, especially of pain or alarm.”

Apparently the online review site, Yelp, is now reviewing health care provider performance.  A recent commentary (V Lee. NEJM 2017; 376: 197-9) provides some insight into this development.

  • Yelp has had “102 million customer reviews to date, 6% of them in the health care arena;” thus, Yelp “dwarfs longer-standing commercial physician review sites such as Healthgrades and Vitals.”
  • “Physicians do not always respond positively to the sudden exposure of sometimes negative reviews.”  These reviews could contribute to drops in physician morale.
  • However, these reviews are here to stay and help patients make more informed choices, provide performance feedback, and may improve quality in health care.
  • The biggest problems with these reviews include the fact that anyone (even a disgruntled neighbor, ex-girlfriend) can post a review and due to clarity of the reviews.  In addition, patient reviews should not be viewed without other metrics like quality and cost.

My take (borrowed from author): “the question is not whether there should be public disclosure of information on patient satisfaction, outcomes, and costs — it’s how and by whom it should be done.”

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Liver Briefs Feb 2017

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JB Schwimmer et al. Gastroenterol 2016; 151: 1141-54.  Using a double-masked trial with 169 children with NAFLD, the use of cysteamine bitartrate for 1 year did not reduce histologic activity scores, but did reduce liver aminotransferase levels.

NA Terrault et al. Gastroenterol 2016; 151: 1131-40. The authors collected data from 2099 participants in the HCV-TARGET study who mainly received ledpasvir-sofosbuvir (311 received therapy in combination with ribavirin).  The study included 25% blacks, 66% with genotype 1A, 41% with cirrhosis, 50% with prior treatment, and 30% who were receiving proton pump therapy.  Key finding: SVR12 rates varied from 95% to 97% based on duration of therapy.  Factors that predicted SVR12 included higher albumin (>3.5 g/dL), lower total bilirubin (<1.2), absence of cirrhosis, absence of proton pump inhibitor therapy.

KR Olson et al. NEJM 2017; 376: 268-78.  This case report of an 18 yo woman with acute liver failure provides a helpful review.  For Wilson’s disease, the article reviews rapid diagnostic criteria: “a screen that shows a ratio of alkaline phosphatase (IU per liter) to total bilirubin (mg per deciliter) of lower than 4.0 and then subsequently shows a ratio of aspartate aminotransferase (IU per liter) to alanine aminotransferase (IU per liter) of higher than 2.2 has been described as 100% sensitive and specific for the diagnosis of Wilson’s disease.”  Making this diagnosis quickly is crucial and allows these patients to be UNOS status 1A, “the only cause of acute liver faliure that allows a patient with preexisting liver disease to be listed as status 1A”

Among children older than 10 years of age, Wilson's disease accounted for 90% of metabolic disease.

Among children older than 10 years of age, Wilson’s disease accounted for 90% of metabolic disease.

Cholecardia

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An interesting study (MS Desai et al. Hepatology 2017; 65: 189-201) examines the effect of excess bile acids on the heart.  The abstract is listed below -I’ve highlighted what I find fascinating:

Cardiac dysfunction in patients with liver cirrhosis is strongly associated with increased serum bile acid concentrations. Here we show that excess bile acids decrease fatty acid oxidation in cardiomyocytes and can cause heart dysfunction, a cardiac syndrome that we term cholecardia. Farnesoid X receptor; Small Heterodimer Partner double knockout mice, a model for bile acid overload, display cardiac hypertrophy, bradycardia, and exercise intolerance. In addition, double knockout mice exhibit an impaired cardiac response to catecholamine challenge. Consistent with this decreased cardiac function, we show that elevated serum bile acids reduce cardiac fatty acid oxidation both in vivo and ex vivo. We find that increased bile acid levels suppress expression of proliferator-activated receptor-γ coactivator 1α, a key regulator of fatty acid metabolism, and that proliferator-activated receptor-γ coactivator 1α overexpression in cardiac cells was able to rescue the bile acid-mediated reduction in fatty acid oxidation genes. Importantly, intestinal bile acid sequestration with cholestyramine was sufficient to reverse the observed heart dysfunction in the double knockout mice.

CONCLUSIONS:

Decreased proliferator-activated receptor-γ coactivator 1α expression contributes to the metabolic dysfunction in cholecardia so that reducing serum bile acid concentrations may be beneficial against the metabolic and pathological changes in the heart.

My take: There are a lot of reasons why having elevated bile acids is not a good thing. This study provides good evidence that these bile acids have specific cardiac toxicity.

Cozumel

Cozumel

Orphan Drugs –Very Profitable

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Did you know that Remicade and Humira are orphan drugs?  For those concerned about pharmaceutical costs, a recent NPR article is a must.

From NPR: Drugs For Rare Diseases Have Become Uncommonly Rich Monopolies

Here’s an excerpt:

Lucrative financial incentives created by the Orphan Drug Act signed into law by President Reagan in 1983 succeeded far beyond anyone’s expectations. More than 200 companies have brought almost 450 so-called orphan drugs to market since the law took effect.

Yet a Kaiser Health News investigation shows that the system intended to help desperate patients is being manipulated by drugmakers to maximize profits and to protect niche markets for medicines already being taken by millions. The companies aren’t breaking the law but they are using the Orphan Drug Act to their advantage in ways that its architects say they didn’t foresee or intend. Today, many orphan medicines, originally developed to treat diseases affecting fewer than 200,000 people, come with astronomical price tags…

More than 70 were drugs first approved by the Food and Drug Administration for mass market use. These medicines, some with familiar brand names, were later approved as orphans. In each case, their manufacturers received millions of dollars in government incentives plus seven years of exclusive rights to treat that rare disease, or a monopoly…

When a drugmaker wins approval of a medicine for an orphan disease, the company gets seven years of exclusive rights to the marketplace, which means the FDA won’t approve another version to treat that rare disease for seven years, even if the brand name company’s patent has run out. The exclusivity is compensation for developing a drug designed for a small number of patients whose total sales weren’t expected to be that profitable…

Industry-wide, orphan drug tax credits cost the federal government $1.76 billion in fiscal 2016

My take: Any objective observer would recognize that the goals of the Orphan Drug Act are being subverted by current practice and changes are needed to achieve the goals of targeting rare diseases and reasonable medication costs.

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Repealing the Affordable Care Act Without a Replacement

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Barack Obama, in a perspective article (BH Obama. NEJM January 6, 2017; DOI: 10.1056/NEJMp1616577), explains the hazards of “repeal and delay.”

Here’s a link to the full text: Repealing the ACA without a Replacement — The Risks to American Health Care

Here’s an excerpt:

Put simply, all our gains are at stake if Congress takes up repealing the health law without an alternative that covers more Americans, improves quality, and makes health care more affordable. That move takes away the opportunity to build on what works and fix what does not. It adds uncertainty to lives of patients, the work of their doctors, and the hospitals and health systems that care for them. And it jeopardizes the improvements in health care that millions of Americans now enjoy.

Congress can take a responsible, bipartisan approach to improving the health care system. This was how we overhauled Medicare’s flawed physician payment system less than 2 years ago. I will applaud legislation that improves Americans’ care, but Republicans should identify improvements and explain their plan from the start — they owe the American people nothing less.

Health care reform isn’t about a nameless, faceless “system.” It’s about the millions of lives at stake — from the cancer survivor who can now take a new job without fear of losing his insurance, to the young person who can stay on her parents’ insurance after college, to the countless Americans who now live healthier lives thanks to the law’s protections. Policymakers should therefore abide by the physician’s oath: “first, do no harm.”

A related article from the LA Times indicates that Aetna misled the public with regard to its reasons for pulling out of several exchanges: Link:U.S. judge finds that Aetna misled the public about its reasons for quitting Obamacare

An excerpt:

The judge’s conclusions about Aetna’s real reasons for pulling out of Obamacare — as opposed to the rationalization the company made in public — are crucial for the debate over the fate of the Affordable Care Act. That’s because the company’s withdrawal has been exploited by Republicans to justify repealing the act. Just last week, House Speaker Paul Ryan (R-Wisc.) cited Aetna’s action on the “Charlie Rose” show, saying that it proved how shaky the exchanges were. ..

Bates found that this rationalization was largely untrue. In fact, he noted, Aetna pulled out of some states and counties that were actually profitable to make a point in its lawsuit defense — and then misled the public about its motivations.

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Cystic Fibrosis Expert Update 2017

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During one of our recent group clinical meetings, one of my partners (Edith Pilzer, MD) presented an update on cystic fibrosis.

Here is a link to her slides:Link: cf-presentation

Here are a few of my notes:

There has been a great improvement in survival of cystic fibrosis patients..  From the Cystic Fibrosis Foundation:

  • ” Today the median predicted survival age is close to 40. This is a dramatic improvement from the 1950s, when a child with CF rarely lived long enough to attend elementary school.”

cftr2org  —website provide information on specific genotypes, including whether genotype is associated with pancreatic insufficiency

From the website:

  • This website provides information for members of the general public, including cystic fibrosis patients and their family members, about what is currently known about specific genetic variants related to cystic fibrosis.
  • Patients and their family members are encouraged to visit the section, “For patients and family members” first.
  • This website also provides more in-depth research-related information for health care professionals and researchers

Pancreatic enzyme replacement therapy (PERT) (see slides)

  • Creon 3000 beads are small enough to go through Gastrostomy tube
  • Pertzye has bicarbonate; thus, additional acid blocker administration is usually not needed
  • Viokase is hard to obtain
  • Relizorb –external lipase cartiledge.  This allows formula, delivered by NG, to run through column and obviates the need for additional PERT dosing.  One cartridge designed for 500 cc but several cartridges can be ‘piggy-backed.’ Here is website: relizorb.com.  Relizorb intent is to eliminate enzymes for night feeds, though it only has lipase; yet, there still could be a need additional PERT for protease and amylase.  Potentially PERT could be administered before or after and hopefully avoid awakening at night for enzymes..

Cystic Fibrosis Related Diabetes (CFRD)

  • Frequent reason for poor growth
  • Now, with increased survival, ~35% of Cystic Fibrosis patients develop CFRD

Distal Intestinal Obstruction Syndrome (DIOS)

  • If mild, treatment with miralax is reasonable
  • If vomiting, consider surgery consult
  • If more than mild, consider water-soluble enema with 10% mucomyst

My take: Great update.  Edith has been taking care of children with cystic fibrosis for more than 30 years and has witnessed/participated in the improvement in the survival of these patients.

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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.

 

Puerto Rico

Puerto Rico