Medical Professionals

Immunology doctors (immunologists) specialise in understanding and treating issues related to the immune system. If your immune system is not working as it should, you may see an immunologist. Some immunology doctors specialise in treating allergies and are known as allergists.

What is the immune system?

The immune system is the body’s defence against infections and other diseases. It is a complex network of cells, tissues, molecules, and organs that work together to keep you healthy. Your immune system can tell the difference between your own cells and foreign invaders such as bacteria and viruses. When it detects foreign invaders, it attacks. It is constantly at work, even when you don’t realise it, protecting you from the countless germs you encounter daily.

How can the immune system go wrong?

If your immune system isn’t working like it should be, it can result in:

Immunodeficiency: when the immune system is too weak to defend the body.

Autoimmunity: When the immune system mistakenly attacks the body’s own cells.

Mast cell activation disorders: When the immune system is too sensitive and overreacts.

These immune system problems are called ‘immune dysfunction’.

Whilst there is currently no evidence directly linking immune dysfunction and EDS/HSD, it is recognised that patients with EDS/HSD experience immune dysfunction more frequently than the general population [1].

Symptoms you may see an immunologist for.

–          If you have frequent, severe or unusual infections.

–          If you have allergies or allergic-type symptoms that are hard to control.

–          If you have symptoms of autoimmune disease (although these are usually treated by doctors who specialise in the organ/body system affected; for example, rheumatologists treat autoimmune connective tissue disorders).

–          If you have asthma that isn’t well controlled with regular treatments.

–          If you have an inherited (genetic) immune disorder (primary immune deficiencies).

What do immunologists do?

Immunologists will do testing, such as blood and urine tests, and analyse these results alongside your symptoms to diagnose problems with your immune system.

Once they know what is causing your symptoms, they may recommend treatments to help your immune system work more effectively and alleviate your symptoms.

What are Mast Cells?

Mast cells are immune cells that play a crucial role in allergic reactions. When they are stimulated by an invading allergen, they release molecules to protect you from the invader. One of the molecules they release is histamine. Histamine produces the hallmark signs of an allergic reaction, such as redness, swelling, and itching. Another molecule mast cells release is leukotrienes. Leukotrienes contribute to asthma symptoms.

Mast cell disorders occur when mast cells are too sensitive and release their molecules too easily. Many mast cell disorders exist, such as asthma and allergies.

Mast cell activation syndrome

Mast Cell Activation Syndrome(MCAS) occurs when your mast cells are too sensitive and overreact to many triggers, including strong emotions, heat/cold, exercise, and allergens (like foods and medicines). In allergic reactions, mast cells are triggered by a protein called an antibody. In mast cell activation syndrome, mast cells can be triggered even when this protein is not present, which is why allergy tests are often normal in MCAS patients.

MCAS symptoms [3]

MCAS can cause many different symptoms because the chemicals released by mast cells affect multiple body systems. Some of the symptoms you may experience are listed below. You may experience some of these or lots of them. There may also be other symptoms caused by mast cell activation which are not listed.

Skin – hives, swelling, itching, warmth, redness, flushing

Respiratory (breathing) – coughing, wheezing, shortness of breath, chest pain or tightness, throat tightness, trouble swallowing, hoarse voice, hay fever-like symptoms.

Gastrointestinal (digestive system) – feeling or being sick, stomach pain/cramps, diarrhoea.

Cardiovascular (heart and blood vessels) – dizziness/lightheadedness, pale/blue skin, weak pulse, and fainting.

Neurological (brain and nervous system) – anxiety, headache, feeling of impending doom.

MCAS treatments

There are several treatment options for managing MCAS symptoms. Your doctor will consider your symptoms, test results and past medical history when deciding on the best treatment for you.

Some common options include:

Antihistamines – known as H1 and H2 blockers

Mast cell stabilisers – such as sodium cromoglicate and Ketotifen.

Leukotriene receptor antagonists– such as montelukast

In some countries, especially America, a medication called Omalizumab (Xolair) is used to treat MCAS. However, in the UK, this medication is only available for preventing ‘severe persistent allergic asthma’ and as an ‘add-on therapy’ for chronic spontaneous urticaria (persistent hives with no apparent trigger) when antihistamines are not effective. This is due to medication licencing rules in the UK [3].

MCAS and EDS/HSD

MCAS is seen in a subpopulation of EDS/HSD patients, and several researchers have suggested links between MCAS and EDS [4].

What to expect at an immunology appointment

NHS Immunology departments vary in what they cover and what referrals they will accept across the country – you can usually find this information out on the hospital, NHS board or Trust website. Your GP (or whoever is referring you) should be able to check the most appropriate place for you to be referred to, based on your symptoms.

On your first visit to immunology, the specialist doctor will ask you lots of details on your symptoms, what trigger them and how they gave impacted on your day-to-day life. They might need to examine you too. It might be helpful if you have recurring and episodic symptoms (things that ‘come and go’) to keep what is known as a symptom diary. Within this, you keep track of what symptoms you have, how severe they are, when this happens and for how long. This can be useful to refer to during the consultation, or to give to your healthcare professional. If you have rashes/hives or something similar that are not there all the time, it might be helpful for your healthcare professional to take pictures and/or videos.

This initial consultation can take some time, especially as these conditions are usually complex, and you might have other related health problems. They might want to do some tests – like blood tests or an ECG – on the day, or you might be asked to come back for some more complex testing. Below is a good resource on what some of the common immunology blood tests mean – https://mft.nhs.uk/immunology-investigations-undertaken-in-the-department-and-annual-review-procedure/. Some people might get specific allergy testing (i.e. a skin prick test). This is when a potential allergen (food, pollen, dust mites) is placed on your skin, followed by a ‘prick’ into your skin. There is another form of allergy test where the potential allergen is injected into the skin (this is an intra-dermal test). Again, different health trusts/boards will carry these out differently – a good summary can be found here: https://mft.nhs.uk/allergy-investigations-and-procedures/#1.

Urologists are doctors who specialise in caring for the bladder, kidneys, and male reproductive system. Due to their high collagen content, these organs can be affected by conditions like Ehlers-Danlos syndrome (EDS) and Hypermobility Spectrum Disorder (HSD) [1] [2].

If you are experiencing symptoms involving your bladder or kidneys, you might need to see a urologist for diagnosis and treatment.

How can the bladder stop working?

Incontinence – inability to control when your bladder empties, leading to leaks.

Retention – retention is when the bladder cannot empty properly. This may be partial (some urine remains in the bladder) or complete (unable to pee at all).

Infections – Can be chronic (persistent despite treatment) or recurrent (keep coming back despite treatment).

Painful bladder syndrome or interstitial cystitis – symptoms of infection, but when urine is tested at the hospital, no bugs are present.

Common Urological Tests

Urodynamics – a series of tests used to see how your bladder, urethra, and sphincters (muscles that control the flow of urine) are working. They may measure the muscle contractions of your bladder, sensations of your bladder, when you get the urge to wee, and how much urine is left in your bladder after having a wee. You may have this test if you are having frequent urination, urgency, incontinence, difficulty urinating or pain when urinating.

Scans – the doctor may request scans such as an MRI or ultrasound to check the structure of your bladder or kidneys. Ultrasounds may be performed externally with the ultrasound probe on the skin or in women, transvaginally (with the ultrasound probe in the vagina).

Cystoscopy – A thin tube with a camera is inserted into the bladder through the urethra to examine the inside of the bladder. If needed, biopsies can be taken. These biopsies can be tested for many things including different bacteria if chronic infection is suspected or mast cells if MCAS (see immunology page) is suspected.

Electromyography (EMG) – measures the electrical activity of muscles and nerves. It can be used to see if the urethral sphincter (the muscle that controls the flow and release of urine from the bladder) is working as it should. This is the ‘gold-standard’ test for Fowler’s syndrome.

Urethral pressure profile (UPP) – Measures the pressure of the urethra by inserting and removing a catheter with sensors. This may be tested if you have difficulty emptying your bladder.

Possible treatments and management strategies

Bladder training – Techniques to retrain your bladder for better function, often guided by a specialist nurse.

Catheters – There are different kinds of catheters, and these are used most often when you have difficulty emptying your bladder.

Options include:

Indwelling catheters – remain in the bladder and can be inserted through the urethra or through the lower tummy (suprapubic catheter). These may drain freely into a bag or allow urine to collect in the bladder as normal and then drain when a valve is opened.

Clean intermittent catheterisation—Alternatively, you may be trained to insert a catheter yourself so you do not have one in your bladder all the time. This is called clean intermittent catheterisation and is usually done via the urethra.

Urostomy – a last resort option where the bladder is removed, and a stoma (an opening in the abdomen which is created using part of the bowel) is made to drain urine into a bag.

Sacral neuromodulation (SNM) – Sacral neuromodulation involves surgically placing electrodes into specific nerves in your lower spine; this helps by stimulating the nerves with electrical impulses. You may be offered SNM if you have an overactive bladder or urinary retention.

Medications – can help with infections, reduce bladder spasms, and help with other symptoms.

Specialist Overlaps

The urinary system is closely linked to the gynaecological and neurological systems. If you have symptoms involving these areas, you might see specialists known as uro-gynecologists or uro-neurologists, who focus on the crossover of these conditions.

They use the most up-to-date public health and scientific research on food, health and disease which they translate into practical guidance to enable people to make appropriate lifestyle and food choices.