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Hypereosinophilic syndrome (HES) is a rare disease
Hypereosinophilic syndrome commonly affects the skin, heart, lung, and gastrointestinal tract (gut). However, every part of the body is vulnerable to the disease.
The following signs and symptoms may be observed:
- Skin: There may be rashes and eczema-like symptoms.
- Lung symptoms: Wheezing, cough, breathlessness, and asthma attacks that do not respond to regular medications.
- Heart: There may be heart failure, breathlessness, fever, chest pain, swelling over the legs, irregular heartbeats, fluid in the lungs, etc.
- Digestive tract: Abdominal pain, vomiting, and diarrhea may be seen. Some complain of loss of appetite.
- Joint and muscles related symptoms like muscle aches and joint pain.
- Nervous system: Giddiness, numbness, speech problems, memory loss, and vision problems.
- Nonspecific symptoms: Exhaustion, anemia, fevers, mouth ulcers, and blood clot formation in various body parts.
What causes hypereosinophilic syndrome?
The disease is more commonly seen in male patients aged 20-50 years; the children may be affected as well.
In approximately 75% of cases, the underlying cause is still unknown. In other cases, the following could be the causes:
- Myeloproliferative disorders: These are slow growing cancers that affect the red cells, white cells, and platelets in the bone marrow. Hypereosinophilic syndrome is often a part of these disorders.
- Genetic conditions: FIP1L1/PDGFRA gene mutation is seen in about 20% of patients of HES. This causes a particularly aggressive disease course.
- Increased production of a substance called interleukin-5 produced by white blood cells is implicated in a form of HES called lymphocytic HES.
- Sometimes, the HES runs in the family. This is due to a change (mutation) in an unknown gene passed down through a family. This form is called familial HES. If one parent has the disease, there is a 50% chance that the child will be having it.
- Some cases have new mutations in the gene. These people have no history of hypereosinophilia syndrome in their families.
Is hypereosinophilic syndrome curable?
Stem cell transplant offers a potential cure for HES; however, it clearly needs more research, and currently, it is not without its own significant risks and limitations.
At present, hypereosinophilic syndrome is manageable (but not curable) with proper drugs and chemotherapy.
HES is fatal if not treated, hence early intervention and proper medication must be sought. The outcome of the treatment and organ involvement differ from person to person. You must discuss the treatment protocol with your doctor for the best guidance over this.
FIP1L1/PDGFRA mutation must be treated aggressively. Imitinib mesylate (Gleevac) is the drug of choice here, which has an excellent response rate in almost all patients.
In the patients without FIP1L1/PDGFRA mutation, the Glucocorticoids (a type of steroid medication) are used as the drug of choice. If there is no response to these, then drugs like Vincristine, Hydroxyurea, or Cyclophosphamide may be used.
In cases of increased IL-5 subtypes of HES, Mepolizumab, Alemtuzumab, and Reslizumab medications show promising results.
Regular follow up tests for the liver and kidney function, serum, Vitamin B12 levels, erythrocyte sedimentation rate (ESR), and serum tryptase levels is a must in all patients. Even in the patients treated for the disease in the past, regular follow up with the doctor for blood tests is required to watch out for recurrence.