Shwachman syndrome is a rare genetic disorder with multiple and varied manifestations. The disorder is typically characterized by signs of insufficient absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency) and improper functioning of the bone marrow (bone marrow dysfunction), resulting in low levels of circulating blood cells (hematologic abnormalities). Additional characteristic findings may include short stature; abnormal bone development affecting the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); and/or liver abnormalities.
Due to abnormal skeletal changes, individuals with Shwachman syndrome may have abnormal thickening of the ribs and their supporting connective tissue (costochondral thickening), resulting in unusually short, flared ribs. In addition, improper bone development (abnormal ossification) within the arms and/or legs (limbs) may cause growth delay in particular bones. Many children with Shwachman syndrome may also be smaller than expected for their ages, with below average height (short stature) and weight. Although malabsorption due to pancreatic insufficiency may itself cause problems with growth and nutrition, short stature appears to be one of the many primary manifestations of Shwachman syndrome.
In addition, as a result of bone marrow dysfunction, individuals with Shwachman syndrome may have a decrease in any or all types of blood cells. Therefore, they may have low levels of certain white blood cells (neutropenia), platelets (thrombocytopenia), red blood cells (anemia), and/or all types of blood cells (pancytopenia). Neutropenia is the most common blood abnormality associated with Shwachman syndrome. Because neutrophils, a type of white blood cell, play an essential role in fighting bacterial infections, many affected individuals are prone to repeated bacterial infections (e.g., recurrent respiratory infections [pneumonia] and infections of the middle ear [otitis media]); in some cases, infections may be severe.
Some affected individuals may also have abnormal enlargement of the liver (hepatomegaly), increased levels of certain liver enzymes in the blood, and/or other findings in association with the disorder. Shwachman syndrome is believed to be inherited as an autosomal recessive trait.
Shwachman syndrome is a rare genetic disorder characterized by insufficient absorption (malabsorption) of necessary nutrients due to abnormal development of the pancreas (pancreatic insufficiency); impaired functioning of the bone marrow, resulting in a reduced number of certain blood cells; abnormal bone changes that may affect the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); short stature; and/or other physical and/or developmental abnormalities. The range and severity of symptoms may vary greatly from case to case.
One of the primary functions of the pancreas is to produce digestive enzymes. Pancreatic cells called “acinar cells” produce such digestive enzymes. In Shwachman syndrome, however, affected individuals lack a sufficient number of properly functioning acinar cells, and pancreatic tissue may be replaced by abnormal accumulations of fat (pancreatic lipomatosis). As a result, there is a deficiency in the amount of digestive enzymes required to break down food (pancreatic insufficiency), which, in turn, prevents fats and other essential nutrients from being absorbed properly (malabsorption).
In individuals with Shwachman syndrome, intestinal malabsorption results in large, loose, foul smelling stools that contain an excessive amount of fat (steatorrhea) and other nutrients. Affected infants may fail to gain the expected amount of weight or may lose weight (failure to thrive). In addition, pancreatic insufficiency may result in deficiencies of certain vitamins (e.g., vitamins A, D, K and/or E) and/or additional nutritional deficiencies. Children with Shwachman syndrome may have larger or smaller appetites than normal and be smaller than expected for their ages, which may be due, in part, to malabsorption of certain necessary nutrients. As children with Shwachman syndrome grow older, the ability of the pancreas to produce digestive enzymes may improve slightly, potentially leading to an improvement in the absorption of certain nutrients and relief of symptoms associated with malabsorption. For example, in almost 50 percent of cases, older children may begin to have normal stool patterns. However, even with improved absorption of nutrients and acceptable weight gain, most affected children will be smaller than average for their ages.
Shwachman syndrome is also characterized by abnormalities of the soft tissue within bone, called bone marrow. Red bone marrow, which is found within the cavities of all bones at birth, contains immature cells known as stem cells that develop into the three cellular components of the blood. These include red blood cells, which carry oxygen to the cells of the body; white blood cells, which are involved in fighting off infections; and platelets, which help the blood to clot properly. In Shwachman syndrome, bone marrow dysfunction results in impaired production of blood cells.
Almost all individuals with Shwachman syndrome have an abnormally decreased number of certain white blood cells (neutrophils). Called “neutropenia,” this condition may be persistent (chronic) or occur occasionally (paroxysmal). In extremely rare cases, neutropenia may occur in regular, predictable cycles (cyclic neutropenia).
Neutrophils play an essential role in fighting bacterial infections by detecting, engulfing, and digesting invading bacteria (phagocytosis). In neutropenia associated with Shwachman syndrome, not only may there be an abnormally low number of neutrophils, but those that are present may have an impaired ability to detect and appropriately respond to invading bacteria (impaired chemotaxis). As a result, affected individuals with neutropenia may be prone to repeated bacterial infections including respiratory infections (e.g., pneumonia); infections of the middle ear (otitis media); and repeated bacterial infections of other areas of the body. Although most young children with Shwachman syndrome are prone to such repeated bacterial infections, such susceptibility may vary from case to case, depending upon the degree of neutropenia and other immune factors that help the body to fight off infections.
Affected individuals with neutropenia may also have additional abnormalities believed to result from an increased susceptibility to infections. These may include increased tooth decay (dental caries), mouth ulcers, and/or disease of the tissues that surround and support the teeth (periodontal disease).
The bone marrow dysfunction associated with Shwachman syndrome may result in abnormalities in the production of other types of blood cells. In some cases, affected individuals have a reduced number of circulating blood platelets (thrombocytopenia), which play an important role in clotting the blood. Individuals with thrombocytopenia may bruise easily and, without appropriate precautions, be prone to abnormal bleeding; however, episodes of severe bleeding are rare.
In approximately half of individuals with Shwachman syndrome, there may be abnormally low levels of red blood cells (anemia). Because red blood cells contain hemoglobin, which functions to carry oxygen, low levels of red blood cells may result in an impaired ability to transport oxygen from the lungs to tissues throughout the body. Associated symptoms may include fatigue, abnormal paleness of the skin (pallor), and/or other findings.
In addition, in some cases, failure of the bone marrow’s cell-generating capacity leads to pancytopenia or decreased levels of all cellular components of the blood, potentially in association with myelodysplastic syndrome (MDS). MDS refers to bone marrow disorders characterized by abnormal stem cells and low levels of red blood cells, white blood cells, and platelets. MDS may precede the development of acute myeloid leukemia, a cancer in which cells that normally develop into certain white blood cells (granulocytes) become malignant and abnormally proliferate. Only approximately one-third of children with Shwachman syndrome eventually develop one of these conditions.
Approximately half of individuals with Shwachman syndrome also have abnormal bone changes that may affect the rib cage and/or bones in the arms and/or legs (limbs). For example, some affected individuals may have abnormal thickening of the ribs and their supporting connective tissue (costochondral thickening), resulting in abnormally short, flared ribs. In addition, in rare cases, abnormal narrowness of the rib cage may cause difficulties with breathing during infancy; however, such symptoms may improve later in childhood.
In cases where limb bone changes occur, the region where the long shaft of the bone (diaphysis) meets its growing end (epiphysis) may develop improperly (metaphyseal dysostosis). In most cases, metaphyseal dysostosis has no harmful effects. However, abnormal bone development (improper ossification) may cause growth delay in a particular bone. Such abnormalities may affect particular areas such as the thigh bone (femur) or the shin bone (tibia). For example, such changes may cause an abnormal reduction in the angle of the thigh bone or the knee, potentially resulting in shortening of the leg, stiffness, and/or limping.
In rare cases, individuals with Shwachman syndrome may have additional skeletal malformations such as fingers that are abnormally bent (clinodactyly). Some affected infants may also have delays in tooth eruption, and their teeth may develop improperly (dental dysplasia).
Another primary characteristic often associated with Shwachman syndrome is short stature. At birth, affected infants are usually of normal height and weight. However, shortly after birth, growth slows and, by the first year of life, most children are below average for height and weight. Most children continue to grow and gain weight at a normal rate but remain smaller than average. The severity of the abnormality varies greatly from case to case. Although malabsorption due to pancreatic insufficiency may cause secondary problems with growth and nutrition, short stature appears to be one of the many primary manifestations of Shwachman syndrome.
Some affected children may also have an abnormally large liver (hepatomegaly) and/or increased levels of certain liver enzymes in the blood (serum liver enzymes). In addition, in some rare cases, those with the disorder may be affected by renal tubular acidosis, a condition in which there is insufficient removal of acid from the blood by the kidney (renal) tubules for excretion in the urine. The renal tubules are part of the filtering units of the kidneys (nephrons). Renal tubular acidosis may lead to increased acid levels in the blood, low blood potassium levels, abnormal calcium deposits within functional tissue (parenchyma) of the kidneys (nephrocalcinosis), softening of bones (osteomalacia), and/or other findings.
Some individuals with Shwachman syndrome may also have additional physical abnormalities. For example, many may exhibit abnormally decreased saliva production, though such symptoms do not appear to contribute to digestive abnormalities. In addition, in early childhood, some with the disorder may have various skin abnormalities including rashes and/or skin that is scaly, dry, and/or rough (ichthyosiform lesions). In many cases, the skin abnormalities may decrease or cease during later childhood.
In rare cases, individuals with Shwachman syndrome may have heart (cardiac) abnormalities. For example, some affected individuals may have abnormal enlargement of the right side of the heart (right-sided hypertrophy). In addition, per reports in the medical literature, children with Shwachman syndrome in a small population in Finland have had an abnormally increased incidence of heart muscle (myocardial) abnormalities as a secondary characteristic in association with the disorder. In such cases, the abnormal formation of scar tissue within heart muscle (myocardial fibrosis) may result in tissue damage and loss (necrosis) in certain areas of the heart (e.g., left ventricle), potentially resulting in life-threatening complications (e.g., heart failure). However, researchers have not observed such patterns of myocardial fibrosis in children with Shwachman syndrome in other geographic locations.
In extremely rare cases, individuals with Shwachman syndrome may also have nervous system abnormalities. These may include an impaired ability to perform certain voluntary movements (apraxia), low muscle tone (hypotonia), and/or general weakness.
In addition, in some cases, children with Shwachman syndrome may experience a delay in reaching developmental milestones (such as crawling, sitting, walking, learning to speak, etc. [delayed motor and speech development]); however, by school age, affected children usually reach their expected milestones. Most children with Shwachman syndrome have normal intelligence; however, in some cases, affected children may have a below-normal I.Q.
Shwachman syndrome is most likely inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.
Researchers at The Hospital for Sick Children and the University of Toronto in Canada have identified the gene that is altered in Shwachman syndrome. After studying 250 affected families from around the world, they identified two major disease-causing mutations in the SBDS gene on chromosome 7. The function of SBDS gene is currently unknown.
Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p”, a long arm identified by the letter “q”, and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered.
Some evidence suggests that an increased predisposition to the development of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) may potentially be associated with structural abnormalities of chromosome 7 (e.g., chromosome 7 monosomy or deletion of all or a portion of the long arm [q] of chromosome 7). Investigators have detected isochromosome 7q in a few individuals with Shwachman syndrome affected by the development of MDS and AML. (An isochromosome is an abnormal chromosome with identical arms on each side of the centromere.) However isochromosome 7q has been reported in association with Shwachman syndrome without clinical signs of MDS and AML and a child with Shwachman syndrome and a chromosome 7 abnormality will not necessarily develop MDS or AML. Research is ongoing to determine the cause of MDS and AML in association with Shwachman syndrome. (For more information on these disorders, choose “myelodysplastic syndromes” or “leukemia” as your search terms in the Rare Disease Database.)
Shwachman syndrome is a rare genetic disorder that may be apparent at birth (congenital), during early infancy, or within the first few years of life. In rare cases, the diagnosis may be made during adolescence or adulthood. Reports indicate that the disorder affects males and females by a ratio of approximately 1.7 to 1.
In addition to the name Shwachman syndrome, alternative terms for the disorder include Shwachman-Bodian syndrome and Shwachman-Diamond-Oski syndrome. These terms are derived from the names of several investigators who described the disease entity in 1964. Since then, well over 100 cases have been recorded in the medical literature. Reported estimates concerning the disorder’s incidence have varied, ranging from one in every 20,000 births to one in 200,000 births. (Incidence refers to the number of new cases of a particular disorder or condition during a specific period.) Because the disorder varies in severity from case to case and since there is no one test to make a diagnosis, it is difficult to determine the true frequency of Shwachman syndrome in the general population.
Shwachman syndrome is usually diagnosed at birth or during early childhood based upon a thorough clinical evaluation, characteristic physical findings, and specialized tests. In rare cases, the diagnosis may be made during adolescence or adulthood.
Testing to detect the mutated gene that causes Shwachman syndrome is available to confirm a diagnosis.
When steatorrhea is present without chronic respiratory abnormalities, a sweat test may be performed to help exclude a possible diagnosis of cystic fibrosis. A sweat test measures the concentration of sodium and chloride excreted from the sweat glands. Although individuals with Shwachman syndrome and cystic fibrosis may have certain similar symptoms (e.g., steatorrhea and other findings associated with pancreatic insufficiency and malabsorption), individuals with Shwachman syndrome have normal concentrations of electrolytes in their sweat, while those with cystic fibrosis have abnormally elevated concentrations of sodium and chloride. (For more on this disorder, see the "Related Disorders" section above.)
In addition, several specialized imaging tests may be used to confirm the presence of specific abnormalities potentially associated with Shwachman syndrome. Pancreatic abnormalities, such as fatty infiltration (pancreatic lipomatosis), may be demonstrated by computed tomography (CT) scanning, abdominal ultrasound, and/or magnetic resonance imaging (MRI). During CT scanning, a computer and X-rays are used to create a film showing cross-sectional images of an organ's tissue structure. In ultrasonography, reflected sound waves create an image of the organs in question. MRI uses a magnetic field and radio waves to create cross-sectional images of the organ.
Various specialized tests of the pancreas may also be performed to help confirm pancreatic insufficiency. Such tests may include stool tests, blood tests, and/or analysis of secretions from the pancreas that are released into the duodenum. (The duodenum is the first portion of the small intestine.)
Bone marrow dysfunction may be confirmed and characterized by the removal and microscopic examination of fluid and tissue samples (bone marrow aspiration and biopsy) as well as blood studies. Various specialized analyses may be conducted on bone marrow fluid and tissue samples, including measures to identify myelodysplastic changes and chromosomal studies to detect structural abnormalities of chromosome 7 (e.g., monosomy 7, monosomy 7q, isochromosome 7q). As mentioned above, bone marrow dysfunction in those with Shwachman syndrome may manifest at different times by varying combinations of neutropenia, thrombocytopenia, and/or anemia. Hematological problems due to bone marrow dysfunction may be monitored by tests that measure the various types of blood cells in the circulation.
Skeletal abnormalities potentially occurring in association with Shwachman syndrome (e.g., metaphyseal dysostosis and rib cage abnormalities) may be identified by physical examination and specialized X-ray studies. In some cases, additional diagnostic tests may also be conducted to detect, characterize, and/or monitor certain abnormalities potentially associated with the disorder.
The treatment of Shwachman syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists who may need to systematically and comprehensively plan an affected child's treatment. Such specialists may include pediatricians; physicians who specialize in disorders of the endocrine glands (endocrinologists); physicians who diagnose and treat disorders of the digestive system (gastroenterologists); specialists who diagnose and treat skeletal abnormalities (orthopedists); physicians specializing in blood disorders (hematologists); dentists; surgeons; physical therapists; dietitians; and/or other health care professionals.
Affected individuals with pancreatic insufficiency may require pancreatic enzyme supplements with meals to promote proper absorption of fats and other necessary nutrients during digestion. In many cases, vitamin supplements (e.g., fat-soluble vitamins A, D, E, K) may also be prescribed to prevent or treat vitamin deficiencies that may result from malabsorption due to pancreatic insufficiency. A high-protein and/or high-calorie diet may also be prescribed in some cases to ensure that an affected individual's total nutritional requirements are met.
In addition, physicians may regularly monitor affected individuals for hematological abnormalities associated with bone marrow dysfunction (e.g., regular blood counts) to ensure proper preventive measures and early, prompt treatment. For example, for affected individuals with thrombocytopenia, dentists and other health care workers may recommend certain preventive measures before or during dental work or surgery (e.g., certain medications) to prevent or lower the risk of abnormal, uncontrolled bleeding.
In some severe cases of neutropenia, anemia, and/or thrombocytopenia, transfusions of specific blood components may be given to help reduce associated symptoms.
As mentioned above, some individuals with Shwachman syndrome may be more prone to developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). It is suspected that the incidence of leukemia may be increased in those with persistent blood abnormalities. Therefore, physicians will closely monitor an affected individual's hematological status to ensure early detection and prompt, appropriate treatment. Physicians may also conduct periodic cytogenetic evaluations to detect certain structural abnormalities of chromosome 7 that may be potentially associated with MDS or AML.
Because neutropenia may result in an increased susceptibility to bacterial infections, physicians may closely monitor affected individuals, recommend preventive measures, and institute immediate antibiotic treatment should such infections occur. In severe cases of bacterial infection, hospitalization may be required.
Individuals with Shwachman syndrome who experience recurrent infections and persistently low neutrophil counts (neutropenia) may be treated with granulocyte-colony stimulating factor (G-CSF). G-CSF is a growth factor; it stimulates the production of white blood cells. The decision to use G-CSF should be made after close consultation with a child's physician and medical team.
As noted above, affected individuals with neutropenia may also be prone to tooth decay and periodontal disease. In such cases, dentists and other specialists may recommend special preventive steps or treatment for these conditions.
Various orthopedic measures may also be taken to help treat and/or correct the skeletal abnormalities potentially associated with Shwachman syndrome. For example, abnormal bone changes causing a reduction in the angle of the thigh bone or the knee may be closely monitored to ensure appropriate, early orthopedic treatment. In severe cases, surgery (e.g., osteotomy) may be performed to help correct the angle from the head (ball) and neck of the thigh bone to its shaft, thereby reducing stiffness and enabling affected individuals to walk with less discomfort.
In some cases, early intervention may be important in ensuring that children with Shwachman syndrome reach their potential. Special services that may be beneficial include speech therapy (in cases of hearing impairment due to otitis media) and other medical, social, and/or vocational services.
Genetic counseling may be of benefit for affected individuals, their immediate families, and other relatives. Other treatment is symptomatic and supportive.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
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For information about clinical trials sponsored by private sources, contact:
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). These blood stem cells grow and eventually develop into one of the three main types of blood cells – red blood cells, white blood cells or platelets. A transplant is done to replace the bone marrow (and consequently the whole blood system) of an affected individual with marrow from a person who does not have a particular disorder. More research is necessary to determine the long-term safety and effectiveness of this potential therapy for infants with Shwachman syndrome. Hematopoietic stem cell transplants are not without drawbacks. The procedure is expensive and carries the risk of serious complications including graft-versus-host disease and other long-term and late effects. HSCT in individuals with Shwachman syndrome is usually reserved for individuals with severely low blood counts (pancytopenia) or individuals who have developed MDS or AML.
Contact for additional information about Shwachman syndrome:
Vandy Black, M.D.
Assistant Professor of Pediatrics
Division of Pediatric Hematology
Johns Hopkins University
720 Rutland Avenue, Ross 1125
Baltimore, MD 21205
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