𝐓𝐨𝐝𝐚𝐲'𝐬 𝐩𝐨𝐬𝐭 𝐢𝐬 𝐟𝐮𝐥𝐥 𝐨𝐟 𝐦𝐢𝐱𝐞𝐝 𝐟𝐞𝐞𝐥𝐢𝐧𝐠𝐬:
😊Happy as I have diagnosed a very rare disorder.
😊Happy as in a way, I have managed to provide closure to a mother that was looking for answers.
😊Happy because now there is a plan of treatment that should improve symptoms and quality of life.
😔Sad also because of having diagnosed a rare disorder that has so many complications associated and makes such a young child suffer so much and, with it, parents as well!
❗Many of you have never heard of 𝐌𝐚𝐬𝐭 𝐂𝐞𝐥𝐥 𝐀𝐜𝐭𝐢𝐯𝐚𝐭𝐢𝐨𝐧 𝐃𝐢𝐬𝐨𝐫𝐝𝐞𝐫 or, in fact, all other mast cell disorders that exist.
⚠️𝘔𝘢𝘴𝘵 𝘤𝘦𝘭𝘭𝘴 are an important part of our immune system, and we could not survive without them.
🐛It is thought the way this line of cells has evolved was mainly to fight against invasion and proliferation of 𝘱𝘢𝘳𝘢𝘴𝘪𝘵𝘦𝘴 in the human gut.
➡️It leads to significant histamine release, which originated from abdominal pain, cramps, and diarrhoea, intending to force the parasites out.
🔷️Now it works as the main mediator for allergic diseases but also to fight infections.
🔶️Only recently (around 𝟐𝟎𝟎𝟕) it has been named a known disorder and, due to that, its incidence and other epidemiological information are really not known.
🔸️As with other Mast Cell Disorders, it is believed it goes highly undiagnosed. The reason being, not many are aware of its symptoms or even how to investigate appropriately.
‼️As a rough idea Mastocytosis (another Mast Cell disorder) is thought to affect between 𝟓 𝐭𝐨 𝟏𝟎 cases per 1 million world population per year.
▶️In this case, it affects more children (around 𝟔𝟓%) than adults (around 𝟑𝟓%).
▶️It affects both genders more or less equally.
▶️Some say it affects more white people from northwestern Europe.
✳As 𝘔𝘢𝘴𝘵𝘰𝘤𝘺𝘵𝘰𝘴𝘪𝘴 is more common than 𝘔𝘊𝘈𝘚, we can only imagine how many cases are diagnosed worldwide per year. The rest of the data might be comparable, but it is not truly known.
💊Treatment is focused on a decrease of symptoms and trying to prevent as many 𝘈𝘯𝘢𝘱𝘩𝘺𝘭𝘢𝘤𝘵𝘪𝘤 episodes as possible.
❗Please do remember that MCAS's symptoms overlap with plenty of other conditions, mainly 𝐂𝐡𝐫𝐨𝐧𝐢𝐜 𝐒𝐩𝐨𝐧𝐭𝐚𝐧𝐞𝐨𝐮𝐬 𝐔𝐫𝐭𝐢𝐜𝐚𝐫𝐢𝐚(𝐂𝐒𝐔) and 𝐂𝐡𝐫𝐨𝐧𝐢𝐜 𝐒𝐩𝐨𝐧𝐭𝐚𝐧𝐞𝐨𝐮𝐬 𝐀𝐧𝐠𝐢𝐨𝐞𝐝𝐞𝐦𝐚 (𝐂𝐒𝐀).
🔜Soon I will also talk about this condition, which is fairly frequent.
🏨So, if you believe your child, or someone you know, fits into the signs and symptoms I speak about here, please do ask for a referral to either a 𝐏𝐚𝐞𝐝𝐢𝐚𝐭𝐫𝐢𝐜 𝐀𝐥𝐥𝐞𝐫𝐠𝐢𝐬𝐭 or an 𝐀𝐝𝐮𝐥𝐭 𝐀𝐥𝐥𝐞𝐫𝐠𝐢𝐬𝐭.
You might think the answer is obvious, but you would be surprised.
⁉️I still receive referrals to my allergy clinic asking patients to be tested as they might have a coeliac allergy!
🔷️𝐂𝐨𝐞𝐥𝐢𝐚𝐜 𝐝𝐢𝐬𝐞𝐚𝐬𝐞 is a serious pathology where the body's immune system attacks itself.
🔷️𝗪𝐡𝐞𝐚𝐭 𝐚𝐥𝐥𝐞𝐫𝐠𝐲 is a reaction to proteins found in wheat. It can be either IgE (immediate) or non-IgE (delayed).
🔷️𝐍𝐂𝐆𝐈/𝐍𝐂𝐆𝐒 has symptoms similar to coeliac disease. Still not well known if or how the immune system is involved. There doesn't seem to have damage to the lining of the gut.
🔶️Gluten is a protein found in cereals.
🔶️When it is ingested, it leads to damage of the internal wall of the bowel with malabsorption associated problems:
➡️Less absorption of nutrients, minerals, and the fat-soluble vitamins A, D, E, and K (this one potentially leading to bleeding problems).
➡️Anaemia due to iron deficiency, low Vit B12 and Folic Acid.
➡️Osteopenia and osteoporosis due to lack of Calcium and Vit D.
➡️Weight loss, growth failure and/or delay in puberty and lethargy as side effects of a lack of carbohydrates and fats.
➡️Potential copper, selenium and zinc deficiencies.
▶️It can develop at any age.
▶️Diagnosis sometimes is not easy as symptoms can be vague. You need to be eating gluten for a diagnosis to be done.
▶️Even a breadcrumb can be damaging. It is a lifelong exclusion of gluten.
▶️It can be inherited, though there are new mutations. The chance to get it if a close relative has it is 1:10.
▶️It is neither an allergy nor an intolerance.
▶️It was thought to be rare, but it is believed to be underdiagnosed.
▶️People can have normal weight or overweight at diagnosis.
▶️You cannot grow out of it!
How to investigate and diagnose:
✅𝐂𝐨𝐞𝐥𝐢𝐚𝐜 𝐝𝐢𝐬𝐞𝐚𝐬𝐞 - Blood tests (TTg IgA and Endomysial Antibodies. Sometimes HLA DQ2 and HLA DQ8).
✅𝗪𝐡𝐞𝐚𝐭 𝐚𝐥𝐥𝐞𝐫𝐠𝐲 - Skin prick tests. Eventually, specific IgE and/or component diagnostics. Sometimes there is also the need for a food challenge. 🔜I will address this issue in another post.
✅𝐍𝐂𝐆𝐈/𝐍𝐂𝐆𝐒 - No validated test. Food exclusion, followed by food inclusion with symptoms coming back again, is the diagnostic took. Before this, Coeliac disease must be excluded.
It is an Allergy or an Intolerance?
🥛In a milk allergy, the body reacts to milk proteins, not milk sugar.
❗In lactose intolerance, there is little to no lactase (an enzyme produced by our body), so the milk sugar (lactose) cannot be digested.
⚠️Cow's milk protein allergy (CMPA) affects from 2 to 6% of children, with the highest prevalence during the first year of age.
➡️About 50% of children have been shown to resolve CMPA within the first year of age, 80-90% within their fifth year.
➡️Symptoms usually develop within a week of cow's milk introduction, although it may be delayed for many weeks, reported up to 24 and 36 weeks.
🔶️Lactose intolerance has 4 types:
1️⃣Primary (the most common form in which our bodies decrease the production of lactase from 5 years of age)
2️⃣Secondary (after a gut injury, illness or surgery our bodies produce less lactase)
3️⃣Developmental (mostly affecting preterms and resolving soon after birth)
4️⃣Congenital (rare and genetic in origin, where there is little to no lactase production - higher incidence in Finland)
💉The tests for both are different.
➡️skin prick tests or blood tests (specific IgE) for IgE mediated for milk allergy
➡️hydrogen breath test or stool sample for lactose intolerance
➡️no tests available for non-IgE mediated (normally food exclusion is the only option)
⚠️Obviously, the symptoms are also different.
➡️IgE mediated (immediate kind) affects the skin most commonly, then the gastrointestinal tract, and least frequently the respiratory system. Cardiovascular symptoms are rarely reported. Symptoms can range in severity from mild to life-threatening. Their onset is typically within minutes of exposure.
➡️Non-IgE-mediated (delayed kind) have typically an onset several hours and in some instances several days after ingestion. They tend to cause skin changes (eczema) and gastrointestinal disturbances (reflux with or without vomiting; constipation or diarrhoea).
➡️Lactose intolerance presents mainly with gastrointestinal problems (abdominal pain, flatulence and diarrhoea).
If you or your child have an immediate reaction to a food, avoid it and ask for a referral to either a Paediatric Allergist or an Adult Allergist.
In case the reactions are delayed (2 hours to several days), your best option is to be seen by either a Paediatric Dietitian or an Adult Dietitian.
‼️A common source of debate, misconception and confusion is "𝘤𝘢𝘯 𝘮𝘺 𝘤𝘩𝘪𝘭𝘥 𝘣𝘦 𝘷𝘢𝘤𝘤𝘪𝘯𝘢𝘵𝘦𝘥 𝘪𝘧 𝘩𝘦/𝘴𝘩𝘦 𝘩𝘢𝘴 𝘢𝘯 𝘦𝘨𝘨 𝘢𝘭𝘭𝘦𝘳𝘨𝘺?".
Especially now with the circulating Pfizer and AstraZeneca (Oxford) COVID19 vaccines, many have asked me about their safety.
But let's start with the basics.
❓𝐒𝐨 𝐰𝐡𝐲 𝐢𝐬 𝐢𝐭 𝐭𝐡𝐚𝐭 𝐦𝐨𝐬𝐭 𝐨𝐟 𝐭𝐡𝐞𝐦 𝐮𝐬𝐞 𝐡𝐞𝐧𝐬' 𝐞𝐠𝐠𝐬?
🦠The process of growing a virus in an egg leads to that virus becoming less infectious to the human being, but still leading to a protective effect against potential infections in the future.
After a virus is injected, the egg will be sealed with gelatine. This is normally made from pork protein.
🥚On the process of collecting the grown virus from the egg, a small amount of protein will come along as well. This can potentially lead to an allergic reaction.
▶️Studies have shown that this vaccine may contain from no amount to 1ng per 0.5ml of egg protein.
▶️Food challenges done on egg-allergic patients showed most people would react to amounts of 50-100mg, with some as low as 2mg of egg protein.
▶️This means the amount on the vaccine is too small to cause an allergic reaction.
⚠️Saying this, other components might lead to allergic reactions.
The ones I am referring to are 𝐆𝐞𝐥𝐚𝐭𝐢𝐧𝐞 (𝐩𝐨𝐫𝐤 𝐨𝐫𝐢𝐠𝐢𝐧) and 𝐍𝐞𝐨𝐦𝐲𝐜𝐢𝐧.
Both have higher concentrations than Ovalbumin.
➡️𝘛𝘩𝘦 𝘚NIFFLE 𝘴𝘵𝘶𝘥𝘪𝘦𝘴 have shown the safety of the Nasal Flu vaccine.
Several studies have shown that the LAIV (Live Attenuated Influenza Vaccine) that contain less than 0.12μg/mL (so 0.06 μg for a 0.5 mL dose) is safe for patients with an egg allergy.
To produce this vaccine, the virus is grown on chick embryonic fibroblast cells.
In case a patient with an egg allergy needs this vaccine, there two other options that can be used, as they do not contain egg:
1️⃣Human Diploid Cell Vaccine (HDCV)
2️⃣Purified Vero Cell Rabies Vaccine (PVRV)
✅𝐘𝐞𝐥𝐥𝐨𝐰 𝐟𝐞𝐯𝐞𝐫 𝐯𝐚𝐜𝐜𝐢𝐧𝐞
The virus for this vaccine is also grown on chick embryos.
If a patient needs this vaccine, there is only one potential option.
What I am referring to is a graded vaccination programme done in a hospital.
As with the MMR vaccine, the Yellow Fever and the Rabies vaccines one also contain Gelatine.
So extra caution needs to be had in this case.
✅Finally, the COVID19 vaccines:
1️⃣"There is no egg or egg-related component of the Pfizer RNA vaccines.
2️⃣ The Oxford AstraZeneca vaccine is produced in genetically modified human embryonic kidney (HEK) 293 cells.
This means both vaccines are safe to be used in egg-allergic children.
The only children who need to be vaccinated in a hospital are those with an allergy to eggs, with previous anaphylaxis to egg or who had a cardiorespiratory reaction needing admission to Intensive Care or those with coexisting active, chronic asthma.
Dr Costa is a Consultant Paediatrician and fellow of the Royal College of Paediatrics and Child Health.