Here we answer queries people have had about CVID. You may also find useful information in the following booklets:
Q. I have CVID and a multiresistant Streptococcus pneumoniae. Am I okay to breast feed my 5 month old daughter with that bug in my system?
A. We cannot give you patient specific advice but in general terms the possible transfer of a resistant bacteria in the airways is not a contraindication to breastfeeding, but some medicines used to treat it might be. We would encourage you to discuss with your health visitor and immunology team, but usually we would encourage breastfeeding where possible.
Q. Do you get ill being a carrier of CVID?
A. The majority of CVID are not directly heritable, that is CVID rarely runs in families so it is unusual to call individuals ‘carriers’, unless a known genetic mutation has been found in that family and the inheritance pattern is known. With knowledge of the genetic abnormality it should be possible to say whether carriers could be affected or not.
Q. Can people develop CVID later in life?
A. Yes. CVID diagnosis is most common in the 20 – 40 year age range, but much older adults and children can be diagnosed.
Q. I have had immunoglobulins checked and they were normal can I still develop CVID?
A. Some antibody deficiencies can evolve over time but if you were previously tested and your symptoms have not changed since that test then it is unlikely CVID will have developed.
Q. I have CVID and luckily have not been affected by many chest/airway infections. What can I do to help prevent an occurrence – exercise?
A. Yes – anything that gets the lungs moving and gets you breathing deeply is good physiotherapy. Exercise will keep the lungs healthy and help to fight off infections. Please have a look at our booklet ‘Looking after your lungs’.
Q. My daughter has been diagnosed with a primary immunodeficiency known as ICOS deficiency. This is a very rare condition and the available information is very limited. Please can you help?
A. ICOS is a monogenic cause of common variable immune deficiency (CVID). Monogenic means controlled by a single gene. Lots of different genes may be altered in CVID and sometimes genetic testing reveals patients with more unusual forms of CVID such as ICOS deficiency. In the case of ICOS the genetic fault results in the lack of the protein molecule called inducible costimulatory of activated T-cells (ICOS). This protein acts as an immune checkpoint and plays a role in cell-cell signalling, immune responses and regulation of cell proliferation.
Our booklet on CVID captures all the information relevant to ICOS including symptoms, diagnosis and treatment. ICOS is inherited in an autosomal recessive fashion with children inheriting a faulty gene from both their mother and father. To help explain this and genetic testing please download our booklet on the ‘Genetic aspects of primary immunodeficiency’.
Q. I have CVID and am thinking of having children. What are the chances of my children having a PID and what are the risks of children inheriting the disorder?
A. There are familial cases of CVID, but these are a small percentage of all patients. Unless you have had a genetic cause of your CVID identified then it is unlikely your child would be affected, at the moment the majority of CVID patients do not have a known genetic diagnosis. It is a good idea to discuss your concerns with your immunologist, who will be able to advise based on the unique features of your clinical case.
Q. Can having CVID cause bladder problems?
A. There are no proven links between CVID and bladder problems but recurrent urinary tract infections (UTIs) can be a problem for many individuals without immune problems.
Q. Are low platelet levels with CVID a common complication? And do I need to do anything about it?
A. Some people with CVID may produce damaging antibodies that attack their own tissues (autoantibodies). These autoantibodies can attack and destroy blood platelets, resulting in low platelet counts. This condition is known as immune thrombocytopenia (ITP). The occurrence of ITP in CVID is 5-10%, which is about 1000 times commoner than in the general population. Most adults with ITP do not require active treatment unless they have significant symptoms. Extremely low platelet levels can be treated with steroids, high dose IVIG sometimes other steroid sparing agents will be used to then maintain or improve the counts. Your immunology team will discuss treatment options with you.
Q. Why is Common Variable Immune Deficiency called ‘variable’?
A. This is because the clinical course of CVID can vary from patient to patient. It was originally called variable immunodeficiencies and noted to be common.
Q. How many people per year are diagnosed with CVID?
A. This not known accurately but in the UK probably about 100.
Q. How many people are currently affected by CVID in the UK?
A. About 1 in 50,000 people have CVID.
Q. What causes CVID?
A. CVID is a multi-gene disorder, so it has lots of causes, but with the 100,000 genome and Bridge project we are getting a better idea every day of the underlying genetic causes.
Q. Does everyone with CVID have the same condition and similar health problems?
A. No there is a whole spectrum of very mild to severe. Some people only get infections and others may get additional complications from a poorly regulated immune system.
Q. Do all people with CVID need immunoglobulin replacement therapy?
A. Yes, usually they do and this will be a decision made by your immunologist.
Q. What role do environmental factors play in causing CVID?
A. It is a combination of gene and environment that result in expression of most diseases, but no one particular environmental factor is known to be important at the moment in the development of CVID.
Q. At what age can you develop CVID?
A. Cases of CVID can occur at any age but most usually occur in the second or third decade of life.
Q. What more do we know about the causes of CVID?
A. This is a complex group of patients. We know of some genes that can cause CVID but for the vast majority of patients the cause is not known. About 90% of CVID are caused by sporadic genetic changes. Clinicians and researchers are starting to unravel the genetics of CVID using faster and cheaper ways of sequencing the DNA of patients.
Q. Why do people get CVID at different ages? If its genetic then why don’t we all get it when we are young?
A. Genetics are only part of the answer. For many complex diseases the genes we inherit can predispose us to a disorder, but the environment we live in and how genes are switched on and off affect when and how severely we are affected. As we understand more about the underlying causes, we may be able to answer this more fully.
Q. I developed CVID in my 50’s and now my much younger brother has developed CVID. Do we have the same gene mutation and why didn’t we get CVID at the same age?
A. It seems likely that you both have the same genetic predisposition. We know that having the mutation doesn’t necessarily mean you will get a disease (called variable penetrance) and that there may be ‘modifiers’ that may or not come into play that trigger CVID either early, as in your brother’s case, or later in life.
Q. Is there a link between CVID and lupus (SLE)?
A. Yes sometimes people with CVID can develop autoimmune conditions such as SLE. Autoimmunity happens when the body starts to attack its own tissues and organs. It is caused by changes in how the immune system works. The immune system simply stops recognising the difference between what is ‘self’ (auto – meaning belonging to the body) and shouldn’t be attacked, and foreign organisms that should be. The effects of this autoimmune attack are inflammation and damage to the tissues of the body. Other types of PID may also have associated autoimmune complications.
You read more about the health complications in PIDs here.
Q. What proportion of patients with CVID will develop autoimmunity and inflammatory problems?
A. Autoimmunity and inflammation are the most frequent complications in CVID. About 20-40% of children with CVID may have symptoms rising to over 40% when CVID develops in adults.
Q. Is a bone marrow transplant (BMT) an option for people with CVID?
A. This depends on the type of the CVID, its genetic basis and also the health problems, past and present that the person may have. We know, at present, that different genes can cause CVID and this is allowing doctors to subgroup CVID patients into those for whom BMT may or may not be a useful treatment option. There is not much historical information on BMT in CVID. In some cases the outcomes, where poor, have to be treated with caution because the BMT was sometimes done on patients who were already ill.
Q. Can medication for depression cause CVID?
A. Many medications can cause hypogammaglobulinaemia, a disorder where the body’s immune system does make enough or any antibodies. However, CVID is a distinct diagnosis made by your doctor where other causes such as medicines have been ruled out.
Q. My child has CVID and has epilepsy. I have been told that the medication she is on might have caused her CVID. Is there a link?
A. Many medications can cause hypogammaglobulinaemia, a disorder where the body’s immune system does make enough or any antibodies. However, CVID is a diagnosis where other causes of low circulating antibodies such as medicines have been ruled out. Anti-epileptics are a common cause of secondary hypogammaglobulinaemia, i.e. the medicine may cause the low antibodies and this is no longer primary immunodeficiency (PID) but secondary (SID). It is of course possible for a child to develop CVID and subsequently develop epilepsy and be put on medication for it, in which case the prior diagnosis of CVID would be unrelated to the meds.
Q. What suggestions do you have for fatigue associated with CVID?
A. The medical perspective
Fatigue is a frequent feature of many conditions that affect the immune system. For this reason Chronic Fatigue Syndrome (CFS) requires that underlying disorders are excluded in order to make the diagnosis. Fatigue in CVID should prompt your doctor to investigate for associated autoimmune conditions (e.g. low thryoid function, anaemia etc) and for complications such as granulomatous disease. If no other associated problems are found and it is CVID associated fatigue, then the management is the same as CFS. This includes graded exercise therapy and psychological support.
The patient perspective – here are their top tips
‘I’d say just rest and take it easy’.
‘I often get aches. I find that Epsom salt baths help. Epsom salts is the active ingredient in Radox Bath salts and it is a muscle relaxant. But you need a mug full in a bath. Don’t have more than 3 a week. It will be very expensive if you buy it from a chemist! About £2 to £3 a bath! I buy it in a 25 kilo bag over the Internet for under £50! And it last for ages!’
‘Get lots of sleep.’
‘Give yourself a timeout during the week.’
‘Accept that you do need to have ‘days off’ where you really do do NOTHING.’
‘Learn how far you can push yourself and know when to stop and rest.’
‘I have Matcha tea.’
‘Have a shower it can refresh you.’
Additions are made to these FAQs periodically. The questions were reviewed by Dr Matthew Buckland, Chairman of our Medical Advisory Panel, March 2018.
