X-Linked Agammaglobulinemia

People associated with XLA disease mostly have problems like pneumonia, otitis, bronchitis, severe diarrhoea and sinus infections. Sometimes symptoms may be seen at a very early age of 1-2 years and sometimes it can be seen in adulthood also. In most of the cases XLA disease targets males rather than females about 85-90% in males and 10-15% in females.One of the reason in XLA disease formation, is mutation in BTK ( Bruton’s Tyrosine Kinase)gene which tend to destroy the B-cells and eventually generate X-linked recessive pattern. 

If an infant’s family members have Congenital Agammaglobulinemia then some traces can be found in the blood of the baby. In some people symptoms aren’t visible but still they can pass XLA to the next generation.

X-LINKED AGAMMAGLOBULINEMIA TREATMENTS

Though there is no permanent cure of Congenital Agammaglobulinemia , treatment can give improvement in life. There are numerous treatments comprising all kinds of medicines suitable from small toddler to adults to skyrocket the immune system and safe-guard patients from troublesome infections. Take a closer look at some :

• To add and neutralize the numbers of antibodies, one of the reliable options is Immunoglobulin Replacements. 
• Antibiotics – works best to reduce the symptoms in the body, especially taken daily or alternate days, can slowly vanish the infection.
• Infusions of Gamma Globulin once or twice in a month is very beneficial because it is rich in antibodies.
• For small children and infants injection is a safe option and for adults either is fine. 
• There are some minor side effects of gamma globulin such as headache, nausea, uneasiness, back pain, etc.
• Live viral vaccines are not commendable for children as it may increase and add new serious diseases.

Continuously stay in touch with the doctor or frequent visits to know more about the disease and discuss the possible ways to maintain healthy life and follow the lead of the doctor to diminish the exposure of infections. 

AGAMMAGLOBULINEMIA DIAGNOSIS

Diagnosis is tedious for uncommon and inherited diseases like XLA. Medical experts first monitor the family history, patients’ symptoms, since how long the disease is present inside the body of the patient and on the basis of such factors diagnosis can be done.

Doctors start from screening tests, to observe the level of B-cells in the body. GTR elaborates the genetic tests and gives relevant information about the gene arrangement.

Other options are serum immunoglobulins tests, advanced single strand DNA tests, serum/gel infused electrophoresis. For females and males separate testing is done on the basis of gender.

Symptoms

Symptoms start appearing when the mother’s antibodies protection level becomes low. So when infant fail to generate the new antibodies in the body, infection enters and spreads in body, along with the below mentioned symptoms:

• Skin Infection
• Giardia related Diarrhea
• Severe Arthritis
• Hepatitis
• Tonsils problems
• Absence of lymph nodes
• Pink Eye
• Infection in bloodstream
• Meningitis
• Polio

All these Bruton’s Agammaglobulinemia Symptoms can lead to unpredictable and uncontrollable diseases, urgent doctor’s advice is a wise thing to do. 

Causes

40-50% of people get Bruton’s Agammaglobulinemia from their parents or other family members. Rest 40-50% occurs due to BTK gene’s presence and also because of instability in B-lymphocytes number.

FAQ

1. WHAT ARE THE RISK FACTORS ASSOCIATED WITH BRUTON’S AGAMMAGLOBULINEMIA ?

Lung Cancer, Rheumatoid arthritis, muscle inflammation and harms the central nervous system all these happens if the treatment is inappropriate and in absence of regular medications life-threatening disease enters.

2. WHAT IS THE ROLE OF LAB TESTS IN CONGENITAL AGAMMAGLOBULINEMIA?

Lab tests are very essential to detect specific symptoms at actual level and to get fast results molecular genetic test is in demand and the best about MGT test is it gives the result before the birth of the child. Fluorocytometry analysis is also very helpful. 

3. GENERALLY AT WHAT AGE XLA IS PRESENT ?

Typically it happens at an early stage of life, when the child is 6 months or 1 year old. Very few cases are reported where people in their adulthood, XLA is present.

4. IS THERE ANY NEED OF SURGERY FOR XLA disease ?

Wide choices of surgery for such disease is not there but some are excellent with tons of pros such as hematopoietic stem cell transplantation and tools like tympanostomy tubes and surgical drainage are reliable surgeries.

5. HOW COMMON IS X LINKED AGAMMAGLOBULINEMIA ?

It is a very rare case, 1-2 people are affected with Bruton’s disease out of 300,000. Also 60% cases are genetic and caused from family only and 30% happens due to BTK gene.

6. FROM WHICH SPECIALIST SHOULD A PERSON WITH XLA DISEASE SHOULD TAKE ADVICE ?

There are many diseases involved with XLA and so are the symptoms and each doctor can give you new and relevant information. So in my opinion, Hematologists, Pulmonologists, Osteologists, Gastroenterologists and dermatologists should be consulted.

7. WHAT  SHOULD BE THE DIET OF X LINKED AGAMMAGLOBULINEMIA PERSON ?

Person should eat balanced food which includes enough proteins, carbs, vitamins and fats. To cope up with a nutrient rich diet you can add supplements also under the doctor’s guidance. But fat content should be minimum.

8. WHAT THINGS A PATIENT WITH BRUTON’S DISEASE SHOULD AVOID ?

People should stay around the clean air. Also alcohol consumption must be minimized and smoking and drugs should be completely avoided.