In this issue: What is Congenital Exocrine Pancreatic Insufficiency; Can genetic disorders be treated in the womb? A case report in Cystic Fibrosis suggests so.
Welcome to our weekly updates on all things SDS, science, and advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email connect@SDSAlliance.org or message us on Facebook! This is all for you!
What is Congenital Exocrine Pancreatic Insufficiency?
Congenital simply means a health issue "present at birth". Exocrine Pancreatic Insufficiency (EPI) means that the pancreas doesn't produce enough digestive enzymes. This video explains the function of the pancreas in great detail, including the difference between exocrine and endocrine functions.
EPI - especially in children or in the absence of any obvious reason like pancreatitis - is often due to a heritable condition, such as Cystic Fibrosis (CF) or Shwachman-Diamond Syndrome (SDS). Many SDS patients have heard about CF as part of their diagnostic journey, especially if EPI was one of the first major symptom noted. In many cases, healthcare providers want to rule out CF first using the so-called sweat test, before proceeding with genetic testing for SDS. These two diseases are completely unrelated to each other, each being caused by mutations in different genes, and causing different health issues. The ONLY common feature is EPI. SDS is the second most common cause of EPI after CF.
If you need support with the treatment of EPI, usually Pancreatic Enzyme Replacement Therapy (medication under various brands such as Pertyze, Creon, Zenpep), talk to your doctor. We have some helpful resources on our website, here, including financial assistance programs.
Last week, Drs. Scheers and Berardis from Belgium published a review article summarizing the mechanism of several congenital EPIs, including CF and SDS.
Congenital exocrine pancreatic insufficiency is a rare condition. In a vast majority of patients, exocrine dysfunction occurs as part of a multisystemic disease, the most prevalent being cystic fibrosis and Shwachman-Bodian-Diamond syndrome. Recent fundamental studies have increased our understanding of the pathophysiology of these diseases. Exocrine pancreatic dysfunction should be considered in children with failure to thrive and fatty stools. Treatment is mainly supportive and consists of pancreatic enzyme replacement and liposoluble vitamins supplementation.
The article includes a nice visual overview
Congenital etiologies of exocrine pancreatic insufficiency. Scheers I, Berardis S. Front Pediatr. 2022 Jul 22;10:909925. doi: 10.3389/fped.2022.909925. eCollection 2022. PMID: 35935370 Free PMC article. Review.
Can genetic disorders be treated in the womb?
For many genetic disorders, it would be a dream come true to be able to treat the disease in the womb, before the mutation can cause irreversible harm. There is a lot of active research happening trying to apply gene therapy approaches in the womb, but we are not quite there yet. A great example is highlighted in this article from a few years ago.
But gene therapy may not be the only way. What if drugs could get to the fetus and start working before the baby was born? What if any of the current therapy development efforts for SDS succeed and the therapies could be applied in the womb already so that SDS complications could be reduced to a minimum?
Since we were talking about CF above, I wanted to highlight a recent case report on CF suggesting that this could possibly work. The authors report the treatment of a mother who is a CF carrier with a combination drug (ETI) treatment commonly used for CF patients. The fetus was suspected to have CF at 23 weeks gestation, due to several typical features of CF.
Through shared decision-making, the mother began ETI at 32 weeks with intent to treat fetal MI [CF symptom]. The ultrasound findings persisted at treatment day 13, but bowel dilation had resolved by imaging on treatment day 27. A female infant was delivered vaginally at 36 weeks with no complications. The mother continued ETI while breastfeeding. Stool elastase at age 2 weeks was 240 mcg/g. Sweat chloride measurement was 64 and 62 mEq/L. Maternal and infant liver function testing have been normal. Maternal ETI treatment likely led to resolution of the MI and there is evidence supporting continued infant benefit through breastmilk. Logistical and ethical considerations regarding treatment of a carrier mother for infant benefit are discussed.
See the original article here:
Szentpetery S, Foil K, Hendrix S, Gray S, Mingora C, Head B, Johnson D, Flume PA.J Cyst Fibros.
doi: 10.1016/j.jcf.2022.04.005. Epub 2022 Apr 11.PMID: 35422395