Shwachman-Diamond Syndrome (SDS), first described in 1964, is an inherited (autosomal recessive) marrow failure disorder that affects multiple organ systems. SDS can affect multiple additional organ systems. In SDS, the bone marrow (the factory that makes your blood), does not function well. The following conditions may occur:
- Neutropenia: The bone marrow fails to produce an adequate number of neutrophils. Neutrophils, a type of white blood cells, fight infections, particularly those caused by bacteria or fungus. The medical term for low numbers of neutrophils is “neutropenia”. Neutropenia is associated with an increased risk of infections.
- Anemia: The numbers of red blood cells or platelets may also be low. “Anemia” refers to low numbers of red blood cells. Red blood cells carry oxygen to the body. Symptoms of anemia include excessive fatigue, lightheadedness, shortness of breath, and pallor. Infants with anemia may have difficulty feeding and lack energy.
- Thrombocytopenia: “Thrombocytopenia” refers to low numbers of platelets. Platelets help the blood to clot. When platelet counts are low, there is an increased risk of bruising or bleeding.
- Aplastic Anemia: Severe bone marrow failure causing very low blood counts is called “aplastic anemia”.
- Risk of Leukemia: SDS is also associated with an increased risk of leukemia, typically acute myelogenous leukemia (AML).
Some patients have many medical issues and some patients may initially appear to be mildly affected. SDS can be characterized by a number of medical complications involving different organs/systems including:
- Pancreas (an inability of the pancreas to produce enzymes essential to digest food, specifically fats). Symptoms may include:
- Frequent watery or greasy stools
- Slow growth
- Specific vitamin deficiencies (vitamin A, vitamin D, vitamin E, and vitamin K)
Regular monitoring of the blood counts and bone marrow by a medical team experienced with SDS is recommended. Treatments are most effective when initiated early in the course of the disease. Bone marrow transplant can cure the hematologic complications but patients with SDS require specialized transplant regimens. Consultation with medical specialists experienced in the treatment of patients with SDS is recommended.
Most patients with SDS have a malfunction of a gene called Shwachman-Bodian-Diamond Syndrome (SBDS). The SBDS gene plays an important role in making ribosomes, which are responsible for producing cellular proteins. The SBDS gene may also have additional cellular functions that are not yet fully understood. Some patients have the clinical features of SDS but lack an identified genetic cause for their symptoms. The Registry is also studying patients with undefined illnesses sharing clinical similarities with SDS (frequently referred to as “SDS-Like” disorders).
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