Shwachman-Bodian Diamond Syndrome

By | June 10, 2022

Shwachman -Bodian-Diamond Syndrome ( SBDS ) is an inherited blood formation disorder. It manifests itself primarily through an insufficiency of the pancreas (pancreas) due to fat storage. Neutropenia, i.e. a decrease in the number of white blood cells, can also be part of the clinical picture. This is caused by a functional failure of the bone marrow. In addition, the patients stand out due to malformations in the skeletal area and short stature.

What is Shwachman-Bodian Diamond Syndrome?

SBDS is a rare congenital bone marrow failure disease first described in 1964 by pediatricians H. Shwachman and L. Diamond. In 2003, a Canadian working group led by Dr. JM Rommens identified the SBDS gene defective in this disease. The autosomal recessively inherited blood formation disorder manifests itself primarily as exocrine pancreatic insufficiency. For 22q11 microdeletion syndrome in dictionary, please visit

In this case, too few digestive enzymes are produced in the pancreas. Furthermore, the function of the bone marrow can be impaired. In many cases, this leads to leukemia, skeletal abnormalities or short stature. SBDS usually occurs in childhood after the first year of life.


In 90 percent of cases, SBDS is caused by a mutation due to gene conversion. In such a conversion, DNA sequences are not exchanged correlatively. A sequence is transferred to the other strand, but not vice versa. The mutated sequence overrides the intact gene. In 10 percent of SBDS cases, the cause is unknown.

Symptoms, Ailments & Signs

SBDS shows up as a reduced number of white blood cells ( neutropenia ). The pancreas is remarkably small and consists mainly of fat. Due to the failure of the pancreas, enzymes are no longer produced sufficiently. This leads to insufficient fat digestion and the associated frequent fatty stools.

These can manifest themselves in a deficiency of the fat-soluble vitamins A, D, E and K. Bone marrow underdevelopment leads to increased infections. Many patients therefore suffer from viral, bacterial or fungal infections. Less common signs are significant liver changes or skeletal malformations, which can vary widely.

In most cases, short stature is caused by an underdeveloped femur. Malformations of the skeleton often refer to a narrowed chest and shortened ribs. These can severely restrict breathing.

Diagnosis & course of disease

The SBDS occurs with a frequency of 1:100,000 to 1:200,000. There is no specific biochemical test that confirms or rules out SBDS. The diagnosis of SBDS is made using clinical and laboratory parameters. When symptoms first appear, SBDS can be very similar to cystic fibrosis . This can be determined by a sweat test.

The hereditary disease Pearson’s disease (Pearson’s syndrome) must also be ruled out in order to diagnose SBDS. At the time of diagnosis, the symptoms of SBDS can vary greatly. The vast majority of patients are diagnosed in early childhood. A thorough examination of the pancreas is essential for this.

In 90 percent of patients, pancreatic insufficiency is diagnosed before the age of one. Blood count changes (neutropenia and other abnormalities) can also lead to the diagnosis. Neutropenia can be intermittent or permanent. This can lead to an increased and sometimes life-threatening susceptibility to infection.

The liver and also the kidneys can show dysfunctions. If the bone marrow cells decrease, there is a risk of anemia ( anemia ) or a lack of platelets ( thrombocytopenia ). The function of the bone marrow can be reduced more and more as a result.

This develops leukemia in some cases. Pancreatic function may gradually improve in SBDS patients, in contrast to patients with congenital pancreatic insufficiency. Infections can take a septic course, which often leads to death in the first few years of life. The life expectancy of SBDS patients is around 15 to 35 years.

Boys are affected more often than girls. The prognosis for children who are not so severely affected appears to be relatively good. In the long term, there is a significant improvement in length growth. The susceptibility to infections is also reduced in these cases. In about 50 percent of patients, the malfunction of the pancreas decreases with increasing age. In some patients, the fatty stool returns to normal completely.


Shwachman-Bodian-Diamond Syndrome can lead to a number of different symptoms and complications. In most cases, however, these also depend heavily on the severity of the syndrome, so that a general prediction of the complications cannot be given. Those affected primarily suffer from a fatty stool. There is also a lack of vitamins D and A, which can lead to problems and limitations in child development.

The bone marrow also remains underdeveloped, which can lead to problems in adulthood. Patients with Shwachman-Bodian-Diamond syndrome often suffer from fungal infections and changes in the liver. In many cases, breathing is also restricted and malformations of the skeleton occur. Due to the malformations, many patients suffer from bullying or teasing and thus often from psychological problems.

Shwachman-Bodian-Diamond syndrome generally has a very negative impact on the sufferer’s quality of life. The treatment itself is usually symptomatic and can limit the symptoms. There are no particular complications. Unfortunately, it cannot be universally predicted whether patients with Shwachman-Bodian-Diamond syndrome will have a reduced life expectancy.

When should you go to the doctor?

Shwachman-Bodian Diamond Syndrome should always be treated by a doctor. Since this is a hereditary disease, genetic counseling should also be carried out if you wish to have children in order to prevent further complications and symptoms. A doctor should therefore be consulted as soon as the first signs and symptoms of Shwachman-Bodian-Diamond syndrome appear. A doctor should be consulted if the person concerned suffers from heavy fatty stools. The excrements are very greasy and usually smell unpleasant.

Underdevelopment of the bones can also indicate this syndrome. Those affected suffer from a lack of vitamins and also from fungal infections. Shwachman-Bodian Diamond Syndrome also has a very negative effect on the affected person’s breathing, so breathing difficulties combined with the other symptoms can also indicate Shwachman-Bodian Diamond Syndrome. If these symptoms occur, a doctor should be consulted. In many cases, malformations of the skeleton also occur.

The Shwachman-Bodian-Diamond syndrome itself is treated by various specialists. The diagnosis can be made by a general practitioner. It cannot be universally predicted whether Shwachman-Bodian-Diamond syndrome will lead to a reduced life expectancy.

Treatment & Therapy

The therapy should be interdisciplinary in cooperation with haematologists and gastroenterologists as well as other specialists. When there is little evidence of a reduction in white blood cells (neutropenia), management of SBDS patients focuses on diet. Pancreatic insufficiency can be treated by pancreatic enzyme substitution.

The administration of nutrients and vitamins is also suitable. SBDS patients have an increased risk of developing leukemia. In advanced disease, a bone marrow transplant is required in specialized transplant centers. Malformations in the skeleton sometimes require surgical intervention.

Sometimes therapy with the growth factor G-CSF is helpful. Fears that treatment with G-CSF increases the risk of leukemia could not be proven. Research into the gene defect of the SBDS should lead to possible new forms of therapy in the future.


Since SBDS is a hereditary disease, there are no preventive measures. In general, prenatal diagnostics allows the early identification of diseases that can be traced back to a gene mutation. This can be useful in families where parents and/or siblings are already ill. Diagnosis can be made in early pregnancy.

However, the blood parameters in SBDS patients usually only change in early childhood. This complicates the prenatal diagnosis of SBDS. However, with these complicated procedures, one should weigh the benefit against the risk. If an SBDS patient becomes pregnant, she must be informed about the possible risks and potential inheritance to her unborn child. Existing children should be tested for SBDS.


Shwachman-Bodian-Diamond Syndrome is an inherited disease. Only symptomatic follow-up care is possible, but no causal treatment is possible. The main focus of treatment here is diet. A healthy diet and adequate fluid intake are very important for strengthening the immune system.

Nicotine, alcohol and other harmful substances should be avoided. In addition, taking nutrient and vitamin complexes helps to compensate for an existing deficiency. Pancreatic insufficiency is treated by pancreatic enzyme substitution.

Due to the increased risk of leukemia, a bone marrow transplant may become necessary as the disease progresses. Furthermore, the malformations and underdevelopment of the bones may require various surgical interventions to improve the condition of the sufferer.

In some cases, psychotherapeutic counseling is appropriate to promote well-being and prevent possible depression in the person concerned. Relaxation techniques such as meditation, yoga or autogenic training also help to accept the disease and achieve emotional stability. Stress factors should be avoided in everyday life.

Regular follow-up checks are important and are carried out by a large number of specialists. Shwachman-Bodian-Diamond Syndrome is an incurable disease and in some cases can reduce life expectancy. The quality of life is sometimes severely impaired by the many symptoms.

You can do that yourself

In the case of Shwachman-Bodian-Diamond syndrome, the possibilities for self-help are limited to strengthening mental strength. In order to improve the physical symptoms, cooperation with a doctor is imperative.

With the hereditary disease, various very severe symptoms occur, which contribute to a significant reduction in the quality of life. Emotional stability is required to deal with the disease in everyday life. Relaxation techniques can help you process events better and react more calmly to unfavorable news. Supported by meditation, yoga or autogenic training for the psyche of the person concerned and their relatives. Nevertheless, it should be carefully considered whether psychotherapeutic treatment might be helpful. stressorsin everyday life should definitely be reduced to a minimum. Hectic, conflicts or socially unstable relationships should be avoided. The person concerned needs an environment that is trusting and characterized by reliability.

The promotion of joie de vivre should be in the foreground despite all the challenges in everyday life. In addition, a healthy and balanced diet is important in order to organize the medical treatment for the organism in the best possible way. Harmful substances such as nicotine or alcohol should be avoided as they weaken the immune system. Staying in an oxygen-rich environment and good sleep hygiene also promote well-being.

Shwachman-Bodian Diamond Syndrome