Tag Archives: DGBIs

Expert Advice for GI Manifestations of Hypermobile Ehlers-Danlos Syndrome Including Association with POTS and Mast Cell Activation Syndrome (MCAS)

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Q Aziz et al. Clinical Gastroenterology and Hepatology, Volume 23, Issue 8, 1291 – 1302. Open Access! AGA Clinical Practice Update on GI Manifestations and Autonomic or Immune Dysfunction in Hypermobile Ehlers-Danlos Syndrome: Expert Review

This review and practice update includes 16 “best practice advice” statements. Here are nine of them:

  • #1: Clinicians should be aware of the observed associations between hEDS or HSDs and POTS and/or MCAS and their overlapping gastrointestinal (GI) manifestations; while theoretical explanations exist, experimental evidence of the biological mechanisms that explain relationships is limited and evolving.
  • #2: Testing for POTS/MCAS should be targeted to patients presenting with clinical manifestations of POTS/MCAS, but universal testing for POTS/MCAS in all patients with hEDS/HSDs is not supported by the current evidence.
  • #3: Gastroenterologists seeing patients with DGBI should inquire about joint hypermobility and strongly consider incorporating the Beighton score for assessing joint hypermobility into their practice as a screening tool; if the screen is positive, gastroenterologists may consider applying 2017 diagnostic criteria to diagnose hEDS (https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf) or offer appropriate referral to a specialist where resources are available.
  • #4: Testing for POTS through postural vital signs (eg, symptomatic increase in heart rate of 30 beats/min [40 beats/min for 12-19 yo] or more with 10 minutes of standing during an active stand or head-up tilt table test in the absence of orthostasis) and referral to specialty practices (eg, cardiology or neurology) for autonomic testing should be considered in patients with hEDS/HSDs and refractory GI symptoms who also report orthostatic intolerance after exclusion of medication side effects and appropriate lifestyle or behavioral modifications (eg, adequate hydration and physical exercise) have been attempted but is not required for all patients with hEDS/HSDs who report GI symptoms alone.
  • #5: In patients presenting to gastroenterology providers, testing for mast cell disorders including MCAS should be considered in patients with hEDS/HSDs and DGBI who also present with episodic symptoms that suggest a more generalized mast cell disorder (eg, visceral and somatic pain, pruritus, flushing, sweating, urticaria, angioedema, wheezing, tachycardia, abdominal cramping, vomiting, nausea, diarrhea, urogynecological and neurological complaints) involving 2 or more physiological systems (eg, cutaneous, GI, cardiac, respiratory, and neuropsychiatric), but current data do not support the use of these tests for routine evaluation of GI symptoms in all patients with hEDS/HSDs without clinical or laboratory evidence of a primary or secondary mast cell disorder.
  • #6: If MCAS is suspected, diagnostic testing with serum tryptase levels collected at baseline and 1–4 hours following symptom flares may be considered by the gastroenterologist; increases of 20% above baseline plus 2 ng/mL are necessary to demonstrate evidence of mast cell activation.
  • #12: Medical management of GI symptoms in hEDS/HSDs and POTS/MCAS should focus on treating the most prominent GI symptoms and abnormal GI function test results. In addition to general DGBIs and GI motility disorder treatment, management should also include treating any symptoms attributable to POTS and/or MCAS.
  • #13: Treatment of POTS may include increasing fluid and salt intake, exercise training, and use of compression garments. Special pharmacological treatments for volume expansion, heart rate control, and vasoconstriction with integrated care from multiple specialties (eg, cardiology, neurology) should be considered in patients who do not respond to conservative lifestyle measures.
  • #14: When MCAS is suspected, patients can benefit from treatment with histamine receptor antagonists and/or mast cell stabilizers, in addition to avoiding triggers such as certain foods, alcohol, strong smells, temperature changes, mechanical stimuli (eg, friction), emotional distress (eg, pollen, mold), or specific medications (eg, opioids, nonsteroidal anti-inflammatory agents, iodinated contrast).

Background: “Clinical gastroenterologists are encountering an increasing number of patients with chronic GI symptoms who also appear to experience comorbid hEDS/HSDs, POTS, and/or MCAS.15,16 Recognizing and treating GI symptoms in patients with hEDS/HSDs and comorbid POTS or MCAS present major challenges for clinicians, who often feel under equipped to address their needs.”

The article provides guidance on measuring hypermobility (Beighton Scoring System), Diagnosis/classification of mast cell activation (Table 1) and treatments for these disorders (Table 2)

My take: This is a useful reference for the overlap of DGBIs with hypermobile Ehlers-Danlos, POTS and Mast cell Activation. Nevertheless, the relationship between these disorders is unclear. In fact, there have been some studies indicating that joint mobility is not associated with an increase in functional GI disorders. Some of the association may be related to a surveillance bias.

Related blog posts:

Dr. Carlo DiLorenzo: Advice for Managing DGBIs (Part 2)

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Recently Dr. DiLorenzo gave our group a brilliant lecture. I have taken some notes and shared some slides. There may be inadvertent omissions and mistakes in my notes. This is part 2 of my summary.

Key points (intermixed with slides):

  • Improving Physical activity, Diet and Sleep Often Helps DGBI symptoms
  • Excess use of smartphones can be detrimental. There are issues with FOMO (fear of missing out), cyberbullying, effects on sleep, and effects on interpersonal skills
  • Displacement, or replacing important activities (including physical activity) with time spent on social media, is a significant concern
  • Working with pain psychologists is an important part of treatment for many children and adolescents
  • Lots of celebrities have been open about their mental health challenges: Lady Gaga, Ariana Grande, Kristen Bell, Selena Gomez, Ryan Reynolds, and Dwayne “The Rock” Johnson
  • For more serious mental health concerns, referral to psychiatry is more appropriate
  • Gut-Brain neuromodulators can be effective.
  • Despite their good safety profile, they are underutilized
  • Dr. DiLorenzo uses more citalopram than omeprazole
  • Amitriptyline is often used for abdominal pain in the absence of anxiety. Variable results have been published
  • Psychotropic medications: Amitriptyline is useful for pain predominant IBS, Citalopram often is effective for FAP/IBS with anxiety, Buspirone is helpful in dyspepsia with anxiety, and Mirtazapine is a good choice in the setting of dyspepsia with with weight loss. Generally, start with a low dose and slowly titrate with each medication
  • Safety: Despite black box warning, recent studies have suggested SSRIs may lower the risk of suicidality overall
  • Don’t be the doctor who only tells patients things they want to hear. (Don’t be afraid of online rating)

Disclaimer: This blog, gutsandgrowth, assumes no responsibility for any use or operation of any method, product, instruction, concept or idea contained in the material herein or for any injury or damage to persons or property (whether products liability, negligence or otherwise) resulting from such use or operation. These blog posts are for educational purposes only. Specific dosing of medications (along with potential adverse effects) should be confirmed by prescribing physician.  Because of rapid advances in the medical sciences, the gutsandgrowth blog cautions that independent verification should be made of diagnosis and drug dosages. The reader is solely responsible for the conduct of any suggested test or procedure.  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

Dr. Carlo DiLorenzo: Advice for Managing DGBIs (Part 1)

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Recently Dr. DiLorenzo gave our group a brilliant lecture. I have taken some notes and shared some slides. There may be inadvertent omissions and mistakes in my notes. Dr. DiLorenzo gave our group a lecture in 2021 as part of the William Meyers Lectureship. This talk extended those observations he conveyed at that visit (Carlo DiLorenzo: Lessons Learnt Over 30 Years).  I highly recommend his upcoming NED talk at NASPGHAN.

Key points (intermixed with slides):

  • Diagnostic testing in the setting of DGBIs is mainly for confirmation that an adequate workup has been completed
  • Schedule enough time for each patient. In evaluations of visits, one of the most negative feelings for patients is when they feel rushed
  • Make sure the patient is allowed to speak. Parents may embellish (or underreport) symptoms
  • Families feel that when clinicians are sitting down that they spend more time with them
  • This extends into the hospital. A recent controlled study showed that having a chair within 3 ft of the bed increased the likelihood that physicians would sit when rounding and increased patient satisfaction (Effect of chair placement on physicians’ behavior and patients’ satisfaction: randomized deception trial. Iyer R, et al.BMJ. 2023 Dec 15;383:e076309). Study conclusion: “Chair placement is a simple, no cost, low tech intervention that increases a physician’s likelihood of sitting during a bedside consultation and resulted in higher patients’ scores for both satisfaction and communication.”
  • Dr. DiLorenzo rarely uses computers when he is in the room with families
  • Don’t belittle or get upset over an “easy” or “stupid” consult. All of us need help and hardly anyone wants to manage only highly-complex patients
  • Don’t speak poorly of other physicians in front of the patient
  • The problem with too much testing –>it can result in ‘Munchausen by Doctor’ and the discovery of incidental problems (that may not necessitate treatment). Further testing has been associated with intensification of symptoms
  • Identification of eosinophilic esophagitis is not helpful in resolving stomach pain
  • Newest “epidemics” associated with stomach pains include alpha gal and multiple vascular compression syndrome
  • While unusual disorders can occur, Dr. DiLorenzo mainly looks for unusual diagnoses when patients have unusual symptoms (like weight loss​, pain with exercise)
  • While guidelines often emphasize the use of treatments based on double-blind, placebo-controlled (DBPC) studies, “there has never been a DBPC for the effectiveness of a parachute.” Some treatments are worthwhile even in the absence of DBPC studies
  • Many of the medicines used for DGBIs and related symptoms have approval for other uses
  • Fundoplication which was commonplace is used rarely these days. Yet, it is still a good treatment for reflux
  • Antegrade enemas can be very effective for constipation
  • “All patients with chronic pseudo-obstruction necessitating parenteral nutrition should have a G-tube and an ileostomy.” It may help them come off parenteral nutrition
  • Don’t order AXR to diagnose constipation. AXRs ordered in ER to diagnose constipation are associated with a slightly higher likelihood of a missed diagnosis.
  • Though, “no need to be holier than the pope.” Using AXR in specific circumstances can be helpful with treatment (like determining success of a cleanout)
  • Treating the Brain is important in patients with DGBIs
  • Anxiety, which is increased in patients with DGBIs, has reached epidemic levels

Disclaimer: This blog, gutsandgrowth, assumes no responsibility for any use or operation of any method, product, instruction, concept or idea contained in the material herein or for any injury or damage to persons or property (whether products liability, negligence or otherwise) resulting from such use or operation. These blog posts are for educational purposes only. Specific dosing of medications (along with potential adverse effects) should be confirmed by prescribing physician.  Because of rapid advances in the medical sciences, the gutsandgrowth blog cautions that independent verification should be made of diagnosis and drug dosages. The reader is solely responsible for the conduct of any suggested test or procedure.  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

Dr. Neha Santucci: Management of DGBIs in the Post-Pandemic Era (Part 1)

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Recently, Dr. Neha Santucci gave our group an excellent update on disorders of gut-brain interaction.  My notes below may contain errors in transcription and in omission. Along with my notes, I have included many of her slides.

John Apley’s monograph The Child with Abdominal Pains provided an early understanding of the prevalence of DGBIs.
An increase in DGBIs occurred with COVID.
This study in adults showed a greater increase in functional dyspepsia compared to IBS.

DGBIs occur in Children with Down syndrome. This cohort showed high rates of functional constipation (36%), irritable bowel syndrome (14.9%), functional dyspepsia (12.3%) and aerophagia (5.3%).
DGBIs were common after surgery for malrotation
  • Development of DGBIs is influenced by psychological factors, early life events, chronic stress, gut motility, inflammation, mucosal immune activation and altered gut microbiota
  • DGBIs are associated with altered brain networks
  • DGBIs are associated with a number of comorbidities including mental health disorders, joint hypermobility, headaches, POTS, musculoskeletal pain, disordered eating, and poor sleep
  • Individuals with DGBIs are at increased risk of eating disorders including ARFID. Presence of ARFID with DGBIs has been associated with more anxiety, depression, ADHD and sleep disturbance
  • Poor sleep in previous night is associated with increased pain the next day in individuals with DGBIs
  • DGBIs are common in children with organic diseases, including IBD, EoE, Celiac disease, Recurrent Pancreatitis, Malrotation and Anorectal disorders
  • Up to 50% of pediatric GI visits are for functional disorders and ~25% of all children have DGBIs
  • Strive to make a positive diagnosis (rather than simply a diagnosis of exclusion)
  • Avoid excessive testing
  • Dyspepsia and gastroparesis are not distinct disorders and likely exist on a spectrum (some of the same treatments for both)
  • First treatment goals: develop a good rapport with family and focus on improved functioning
Children with DGBIs had more problems with coping skills.
Individuals with DGBIs are at increased risk of eating disorders including ARFID. Presence of ARFID with DGBIs has been associated with more anxiety, depression, ADHD and sleep disturbance.
Initial treatment needs to address these questions

Related blog posts:

-“The more time the doctor spends on the history, the less time he is likely to spend on treatment.”

-“Doctors who treat the symptoms tend to file a prescription. Doctors who treat the patient are more likely to offer guidance.”

-“It is a fallacy that a physical symptoms always has a physical cause and needs a physical treatment.”

-“Anxiety like courage is contagious.”

Disclaimer: This blog, gutsandgrowth, assumes no responsibility for any use or operation of any method, product, instruction, concept or idea contained in the material herein or for any injury or damage to persons or property (whether products liability, negligence or otherwise) resulting from such use or operation. These blog posts are for educational purposes only. Specific dosing of medications (along with potential adverse effects) should be confirmed by prescribing physician.  Because of rapid advances in the medical sciences, the gutsandgrowth blog cautions that independent verification should be made of diagnosis and drug dosages. The reader is solely responsible for the conduct of any suggested test or procedure.  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.