Episode 51 - Progeria - a podcast by Rio Bravo Family Medicine Residency Program

Progeria is a rare disease that causes premature aging in childhood; the FODMAP diet is explained as a treatment for IBS; J&J vaccine restarted; Question of the month: Fever and Cough.

Introduction: Low FODMAP Diet and J&J COVID Vaccine is back.  
By P. Eresha Perera, MS3, and Sherika Adams, MS3.

Today is May 10, 2021.

Irritable Bowel Syndrome. 

Patients with IBS frequently have other conditions such as anxiety, depression, somatization, fibromyalgia, chronic fatigue syndrome, GERD, dyspepsia, non-cardiac chest pain, chronic pain, and other mental illness. A common triad we see in the clinic is: Anxiety + Fibromyalgia + IBS. Treating these conditions is hard, and even more so when they are combined. 

Let’s focus for now on IBS treatment. Recently we had a patient with IBS who had a laparoscopic cholecystectomy and of course was complaining of abdominal pain and constipation. We mentioned the low FODMAP diet as part of the treatment. The low FODMAP diet has been proven for the treatment of irritable bowel syndrome (IBS) and or small intestinal bacterial overgrowth (SIBO). It has decreased symptoms in 86% of people. 

FODMAP is an acronym that stands for fermentable oligosaccharides, disaccharides, monosaccharides, and polyols. This diet attempts to restrict these short-chain carbs that are poorly absorbed by the small intestine, resulting in cramping, constipation, diarrhea, bloating, and gas or flatulence.

You can recommend your patients to follow 3 steps: Step 1: Eliminate foods that are high on FODMAP, Step 2. Determine which foods cause symptoms by reintroducing eliminated foods slowly, and Step 3. After identification of the FODMAP foods that cause symptoms, remove them completely from the patient’s diet. Dr. Hazel Galon Veloso, John Hopkins's gastroenterologist, recommends doing step 1 for 2-6 weeks and step 2 reintroducing a high FODMAP food back into diet every 3 days. 

Example of HIGH FODMAP foods: Dairy-based milk, yogurt, ice cream, wheat products (cereal, bread, and crackers), beans, lentils, vegetables like artichokes, asparagus, onions, and garlic, and fruits such as apples, cherries, pears, and peaches. 

Example of LOW FODMAP foods: Eggs, meat, cheese such as Brie, cheddar, and feta; almond milk, rice, quinoa, oats, potatoes, tomatoes, cucumbers, zucchini, grapes, oranges, and strawberries.

If available, Fodmap should be initiated with the advice of a nutritionist that can help with the transition, prevent over-restriction and nutritional replete diet. Consider this diet as an initial treatment for your patients with IBS.

Vaccination with J&J COVID 19 Vaccination has been restarted.

On a different note, On April 23, 2021, the CDC’s Advisory Committee on Immunization Practices (ACIP) has recommended to restart vaccination with the Janssen/Jonson & Jonson COVID-19 vaccine after a pause on April 13, 2021[2]. 

After giving the J&J vaccine to almost 8 million patients, 15 cases of Thrombosis with Thrombocytopenia Syndrome (TTS) were reported and three of them died. The recommendation was given after a risk-benefit analysis that determined that the benefits of the vaccine outweigh the risks. The risk of TTS in women age 18-49 still exists, but it is considered very low when compared to all the risks carried by COVID 19 itself. Under the emergency use authorization, the Jonson & Jonson vaccine is considered highly effective and safe. In comparison, the AstraZeneca vaccine has had several more cases of TTS, Moderna has had only 3 but with normal platelets, and Pfizer has had zero cases of TTS[3].  

This is Rio Bravo qWeek, your weekly dose of knowledge brought to you by the Rio Bravo Family Medicine Residency Program from Bakersfield, California. Our program is affiliated with UCLA, and it’s sponsored by Clinica Sierra Vista, Let Us Be Your Healthcare Home.

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Question of the Month: Fever and Cough
Written by Hector Arreaza, MD

What are your top 3 differential diagnosis and acute management for a 69-year-old man with new onset of fever, cough, leukocytosis and a right lower lobe consolidation? Important: Rapid COVID-19 test is negative.

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Progeria. 
With Salwa Sadiq-Ali, MS3, Veronica Phung, MS3; and Hector Arreaza, MD.  
 

“The Curious Case of Benjamin Button” is an American movie released in 2008, directed by David Fincher, starring Brad Pitt. Let’s see how we can connect this movie to today’s topic.

What is Hutchinson Gilford Syndrome better known as Progeria?

V. Phung: That’s a great question! Progeria is an extremely rare disease. It’s progressive and causes children to age very quickly within the first few years of their life. The disease is not evident at birth. 

S. Sadiq-Ali: Exactly! Usually, kids will start developing symptoms within their first year of life with the first symptom being failure to thrive. Other common features include a disproportionately large head for their face, narrow nasal ridge and tip, small mouth, retro and micrognathia, little to no subQ fat with small outpouchings, delayed eruption of primary teeth, progressive joint contractures, and essentially all geriatric conditions like alopecia, osteoarthritis, and hearing loss. One interesting tidbit though is that their motor and mental development is normal! 

H. Arreaza: A child getting old quickly, that’s so interesting. What’s the pathophysiology of this condition?

V. Phung: So, it’s due to a genetic mutation - a single nucleotide polymorphism - in the LMNA gene known as lamin A. This gene codes for the lamin A protein which holds the cell’s nucleus together. A mutation causes your body to make a much smaller protein called progerin. Progerin is not stable so it doesn’t hold the cell’s nucleus together properly. This instability is thought to be the cause of premature aging. 

S. Sadiq-Ali: That’s right Veronica! There are two common mutations – the classic form and the non-classic form. The difference between the two forms is where in the gene the mutation occurs. 

H. Arreaza: So, if I suspect my patient has progeria, I should do a genetic test for the LMNA gene mutation. How common is progeria?

S. Sadiq-Ali: About 1 in every 4 to 8 million births is affected by progeria. Unlike many other conditions, there aren’t any predisposing factors - such as gender, location, or ethnicity. It’s completely random! Right now, about 179 children across 53 different countries have been diagnosed with progeria. 18 of those cases are here in the US. One family in India, has had 5 children with progeria. Another interesting fact is that there have been only 2 known cases of a completely healthy person carrying the mutated gene!  

V. Phung: Since they’re aging so rapidly and prematurely, their life expectancy is about 14.5 years. However, the oldest believed survivor - Tiffany from Ohio – has lived up to the age of 43! 

H. Arreaza: And she is still alive, as far as I know. What can be done in terms of management to ensure these children and adults can live their best, most comfortable life? 

S. Sadiq-Ali: There’s no cure so you’d want to manage any symptoms and make sure the child is getting proper nutrition. Generally, the recommendation is to have small frequent meals, maintain good hydration, do routine PT and exercises, use shoe pads since they don’t have much body fat to provide cushioning, use plenty of sunscreen, prescribe anticoagulation as needed for geriatric conditions like CAD/CVD, and manage any fractures or dislocations that may occur. It requires a multidisciplinary care team.

H. Arreaza: So, you mentioned Tiffany Wedekind, the person with progeria who has lived the longest. Now, I want to mention Sam Berns, maybe the most famous person with progeria. “Life According to Sam” is an HBO documentary directed by Sean Fine and Andrea Nix Fine. It was presented in January 2013 at the Sundance Film Festival (I love Park City, Utah). The documentary explains the impact of progeria on the lives of Sam Berns and his parents, Dr. Leslie Gordon and Dr. Scott Berns. You can also see or listen to the Ted Talk given by Sam Berns (google it or go to the link in our script).

S. Sadiq-Ali: These kids are aging so quickly they have geriatric conditions; do they die from natural causes or from heart disease and stroke? 

V. Phung: That’s a great question. Unfortunately, yes. Death is commonly due to complications from atherosclerosis, cardiac disease, and cerebrovascular disease - like a heart attack or stroke. 

S. Sadiq-Ali: “The Curious Case of Benjamin Button” is usually thought to be an example of progeria, but it’s actually the opposite: A child born as an adult who dies as a baby.

H. Arreaza: That was really educational. Progeria, a rare disease that you should know about, in case someone asks you. Remember, “family doctors know everything”.  Even without trying every night you go to bed being a little wiser.

Conclusion
By Hector Arreaza, MD

Now we conclude our episode number 51 “Progeria”, a rare disease that requires care by a multidisciplinary team. You may not encounter a patient with progeria in your life, but if you do, now you know the fundamentals of that syndrome. We started this episode talking about the FODMAP diet. Consider this diet as part of the initial treatment of IBS. Don’t forget to send your answer (one more week to do it). What are your top 3 differential diagnosis and the acute management of a 69-year-old male with new onset of fever, cough, leukocytosis, right lower lobe consolidation and negative rapid COVID 19 test. Remember, even without trying, every night you go to bed being a little wiser.

Thanks for listening to Rio Bravo qWeek. If you have any feedback about this podcast, contact us by email RBresidency@clinicasierravista.org, or visit our website riobravofmrp.org/qweek. This podcast was created with educational purposes only. Visit your primary care physician for additional medical advice. This week we thank Hector Arreaza, Sherika Adams, Eresha Perera, Salwa Sadiq-Ali, and Veronica Phung. Audio edition: Suraj Amrutia. See you next week!

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References:

Veloso, H. G. (n.d.). FODMAP Diet: What You Need to Know. Johns Hopkins Medicine. https://www.hopkinsmedicine.org/health/wellness-and-prevention/fodmap-diet-what-you-need-to-know. 

 

ACIP Updates Recommendations on Johnson & Johnson Vaccine, American Association of Family Physicians, aafp.org. https://www.aafp.org//news/health-of-the-public/20210429acipjjvac.html

 

Meara, Killian, CDC’s ACIP Votes to Reaffirm Recommendation of Johnson & Johnson COVID-19 Vaccine, April 23, 2021, ContagionLive.com. https://www.contagionlive.com/view/cdc-s-acip-votes-to-reaffirm-recommendation-of-johnson-johnson-covid-19-vaccine

 

Progeria, National Center for Advancing Translational Sciences, National Institutes of Health, https://rarediseases.info.nih.gov/diseases/7467/progeria, accessed on May 6, 2021.

 

Sinha JK, Ghosh S, Raghunath M. Progeria: a rare genetic premature ageing disorder. Indian J Med Res. 2014;139(5):667-674. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140030/

 

Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. 2003 Dec 12 [Updated 2019 Jan 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1121/. 

 

The Progeria Research Foundation, https://www.progeriaresearch.org/, accessed on May 6, 2021.

 

Family battles with rare progeria disease, Deccan Herald, New Delhi, November 9, 2009, https://www.deccanherald.com/content/34971/family-battles-rare-progeria-disease.html

 

Sam Berns, TEDx MidAtlantic 2013, My philosophy for a happy life. Available at: https://www.ted.com/talks/sam_berns_my_philosophy_for_a_happy_life?language=en, accessed on May 6, 2021.

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