About wm syndrome
What is wm syndrome?
Weill Marchesani syndrome is a rare genetic disorder of connective tissue characterized by abnormalities of the lens of the eye, short stature, an unusually short, broad head (brachycephaly) and joint stiffness. The eye (ocular) abnormalities can include small round lenses (microspherophakia), abnormal position of the lens (ectopia lentis) nearsightedness (myopia) resulting from the abnormal shape of the eye and lens and eye disease that damages the optic nerve (glaucoma) that can lead to blindness. Heart defects are present in some affected individuals. Weill Marchesani syndrome follows autosomal recessive or autosomal dominant inheritance.
What are the symptoms for wm syndrome?
Short upturned lips and wide mouth symptom was found in the wm syndrome condition
The symptoms of Waldenstrom’s disease will vary based on the severity of your condition. In some instances, people with this condition have no symptoms, and the cancer is only found after a person has routine blood tests done.
Symptoms of Waldenstrom’s disease can be similar to other types of non-Hodgkin’s lymphoma.
Some common symptoms of this disease are:
- Weakness and fatigue. This is one of the most common symptoms and is typically caused by anemia or the thickening of the blood due to lgM buildup.
- Loss of appetite and weight loss. Appetite loss is a side effect of WM and can lead to unexplained weight loss.
- Fever and sweats. WM can cause fevers and drenching night sweats, even if a person doesn’t have an infection.
- Neuropathy. Numbness or loss of feeling in the feet and legs can happen if abnormal antibodies cause nerve damage outside the brain.
Some less common symptoms include:
- Abnormal bleeding. Excess levels of abnormal igM can damage blood vessels, leading to Abnormal bleeding like nosebleeds and bleeding gums.
- Blood circulation problems. When WM causes hyperviscosity syndrome, thickened blood can cause poor circulation in the brain and body, causing headache, confusion, dizziness, and stroke-like symptoms.
- Swollen lymph nodes. These appear as lumps under the skin around the neck, groin, or armpits.
- Swollen abdomen. When WM causes the spleen or liver to become enlarged, the belly may appear swollen.
- Heart problems. High levels of lgM can damage tissue and muscles in the heart and cause the heart to have to work harder to pump blood, which can lead to congestive heart failure.
- Kidney problems. High levels of lgM can cauase damage to the kidneys.
- Digestive symptoms. lgM buildup in the intestines can lead to GI symptoms like diarrhea, bloody stools, and poor absorption of vitamins.
- Sensitivity to cold. In some people, lgM and other proteins react to cold temperatures to form clumps that block blood flow in areas of the body exposed to cold, leading to Pain in the hands and feet or loss of color in fingers and toes exposed to the cold.
- Vision problems. Excess bleeding or poor circulation around blood vessels inside the eyes may cause blurred vision or blind spots.
- Infections. High levels of lgM can reduce the body’s ability to produce healthy antibodies, making the body more susceptible to infection.
What are the causes for wm syndrome?
Waldenstrom’s disease develops when your body overproduces IgM antibodies. The cause of this disease is unknown, though it is believed to be due to gene mutations that develop throughout a person’s life.
What are the treatments for wm syndrome?
Although WM has no current cure, there are various treatments that can help manage its symptoms. You may not need treatment if you don’t have any symptoms.
Your doctor will evaluate the severity of your symptoms to recommend the best treatment for you. Below are some ways WM is treated.
A variety of chemotherapy drugs can treat WM. Some are injected into the body, while others are taken orally. Chemotherapy can help destroy cancer cells that produce too much IgM.
Newer drugs aimed at addressing the changes inside cancer cells are called targeted therapy. These drugs can be used when chemotherapy doesn’t work.
Targeted therapy often has less severe side effects. Targeted therapy for WM may include:
- proteasome inhibitors
- mTOR inhibitors
- Bruton tyrosine kinase inhibitors
Immunotherapy boosts your immune system to potentially slow the growth of WM cells, or destroy them altogether.
Immunotherapy may include the use of:
- monoclonal antibodies (synthetic versions of natural antibodies)
- immunomodulating drugs
If you have hyperviscosity syndrome as a result of WM, you may need plasmapheresis right away.
This treatment involves using a machine to remove plasma with abnormal proteins from the body to lower your IgM level.
Other treatments may be available as well, depending on your specific condition. Your doctor will advise on the best option for you.
What are the risk factors for wm syndrome?
WM syndrome is a rare genetic disorder that causes a person to have an increased risk of developing cancer. It is caused by a mutation in the WT1 gene, which regulates the development and function of cells.
The risk factors for WM syndrome include having an affected family member or being born with HLHS. If you have one or both of these risk factors, it's important to talk with your doctor about whether you should be tested for this condition.
There are a handful of risk factors for WM syndrome, including:
- Age: The condition tends to become more common with age.
- Gender: Women are more likely than men to develop the disorder.
- Genetics: Some people inherit the condition from their parents, while others develop it because of environmental factors or other unknown causes.
- A family history of WM syndrome (if you have an affected sibling)
- Low birth weight at delivery
- Alcoholism, malnutrition, diabetes, kidney failure and severe burns