What is the life expectancy of a person with Shwachman-Diamond Syndrome?

What is the life expectancy of a person with Shwachman-Diamond Syndrome?

Life expectancy of patients with SDS is expected to be >35 years. However, those with significant haematological abnormalities, including AML, have significant morbidity and mortality and subsequently reduced life expectancy.

What are the symptoms of Shwachman-Diamond Syndrome?

What are the symptoms of Shwachman-Diamond syndrome?

• chronic diarrhea.
• frequent infections due to low white blood cell counts.
• poor growth.
• pale skin.
• lack of energy or tiring easily (fatigue)
• bruising, or a red or purple pinpoint rash on the face or body.
• bleeding (for example bleeding gums, nosebleeds, blood in the stool)

Is there a cure for Shwachman-Diamond Syndrome?

The only curative therapy for individuals with Shwachman syndrome is a hematopoietic stem cell transplant (HSCT). Hematopoietic stem cells are specialized cells found in the bone marrow (the soft spongy material found in long bones).

Is Shwachman-Diamond Syndrome life threatening?

Some affected infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing. The combination of skeletal abnormalities and slow growth results in short stature in most people with this disorder.

How do you test for Shwachman-Diamond Syndrome?

How is Shwachman-Diamond syndrome diagnosed?

1. blood work to evaluate red blood cells, white blood cells and platelets.
2. kidney, liver and pancreatic function tests.
3. pancreatic stimulation testing – to measure the ability of the pancreas to respond to secretin, a hormone involved in food absorption.
4. stool collection.

Is exocrine pancreatic insufficiency fatal?

Exocrine pancreatic insufficiency (EPI) is a long-lasting medical condition that affects the pancreas. It usually upsets the way the body breaks down (digests) food and can cause gastrointestinal problems. Exocrine pancreatic insufficiency (EPI) may be managed, but it cannot be cured.

Why would a patient with abnormal pancreas show signs of anemia?

CBC tests also provide information about your red blood cells, which function to carry oxygen throughout your body. When red blood cell counts drop too low, it causes a condition called anemia. Chronic diseases like pancreatic cancer, or inflammation like pancreatitis, can cause anemia.

How do you pronounce Shwachman Diamond?

Pronunciation: (SHWAK-mun-DY-mund SIN-drome)

How many people have SDS?

Shwachman-Diamond syndrome is a rare condition that is thought to occur in approximately 1 in 80,000 newborns. Because the signs and symptoms are variable and can be mild in some affected individuals, doctors suspect the condition is underdiagnosed.

Can you reverse exocrine pancreatic insufficiency?

Exocrine pancreatic insufficiency (EPI) may be managed, but it cannot be cured. EPI is treated by a combination of lifestyle changes and pancreatic enzyme replacement therapy (PERT).