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Disease Profile

Gardner-Diamond syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

D69.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Autoerythrocyte sensitization; Psychogenic purpura; Autoerythrocyte sensitization purpura;

Categories

Behavioral and mental disorders; Skin Diseases

Summary

Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises that may be associated with burning, redness and swelling. Most affected people report that the bruising occurs either spontaneously, or some time after trauma or surgery at other sites of the body. The cause of GDS is poorly understood. Management typically involves psychiatric treatment.[1][2]

Symptoms

People with Gardner-Diamond syndrome have reported that bruises occur either spontaneously or after trauma or surgery (even at other sites of the body). Some people are able to pinpoint exactly when the bruising occurred, while others are not.[1]

Episodes of bruising may begin with sensations such as burning, stinging or pain, and may be accompanied by a general feeling of malaise or fatigue.[1][3] This may be followed by warmth, puffiness, redness and/or itching over the affected area. In some cases, episodes may also be accompanied by fever, headache, or gastrointestinal symptoms. Sometimes, pain and swelling is severe enough to cause immobilization of the affected body part. People have reported that the pain generally subsides when the bruises appear.[1]

Bruises typically go away in approximately 7-10 days.[3] However, relapses and remissions of bruising episodes can last for many years. In some cases, symptoms of the condition persist and may worsen. Subsequent episodes are most likely to occur after some sort of physical trauma or stress.[3]

Cause

The underlying cause of Gardner-Diamond syndrome (GDS) is poorly understood and has not been identified. Experts have proposed several possible explanations including:[1]

  • response to stress stress, or distress, is associated with increased levels of glucocorticoids and catecholamines in the body, which may alter processes such as fibrinolysis (the breakdown of blood clots)
  • increased fibrinolysis an increase in the activity of tissue plasminogen activator (tPA), which can cause a cascade of events that may lead to bleeding
  • autoerythrocyte sensitization an autoimmune reaction to the affected person's own red blood cells (erythrocytes)

Diagnosis

There are no specific laboratory tests that can confirm the diagnosis of Gardner-Diamond syndrome (GDS), but various tests may be used to rule out other conditions. The diagnosis may be considered based on the presence of symptoms, when all other causes of bleeding have been ruled out (including the use or misuse of various medications that may be associated with bleeding).[1][3] A detailed psychiatric evaluation is of huge importance if GDS is suspected, with information concerning how the person has responded to major stressful events in his or her life (such as fetal losses, death in the family, divorce, loss of income). While the underlying cause of GDS is unknown, an abnormal psychiatric history is virtually always present.[1]

Treatment

There is no specific treatment for Gardner-Diamond syndrome (GDS).[4] It has been suggested that psychiatric treatment (including psychotherapy) is the only reasonable therapeutic option.[1] In some people, psychiatric medications for mental illness have helped to improve the symptoms. For example, in a person with GDS and an underlying personality disorder, medications used to treat the personality disorder may help with the symptoms of GDS.[3] Due to the presumed psychological nature of the disease, placebo effect has been used successfully to ease the severity of symptoms.[4]

It has been proposed that certain medications used to alter the tonus of the capillaries (how they contract), the permeability of the vessels, and/or the flowing properties of the blood may be useful for some people.[3]

Symptomatic therapy may be helpful for severe, general symptoms. Several approaches including antihistamines, corticosteroids, antidepressants, hormones, and vitamins have had variable success.[4]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Merck Manual for health care professionals provides information on Gardner-Diamond syndrome.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gardner-Diamond syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

References

  1. Benjamin P Geisler, Bruce J Dezube. Psychogenic purpura (Gardner-Diamond syndrome). UpToDate. Waltham, MA: UpToDate; December, 2015;
  2. David J. Kuter. Autoerythrocyte Sensitization. Merck Manual. September, 2014; https://www.merckmanuals.com/professional/hematology-and-oncology/bleeding-due-to-abnormal-blood-vessels/autoerythrocyte-sensitization.
  3. OL Ivanov, AN Lvov, AV Michenko, J Künzel, P Mayser, U Gieler. Autoerythrocyte sensitization syndrome (Gardner–Diamond syndrome): review of the literature. Journal of the European Academy of Dermatology and Venereology. 2009; 23(5):499-504. https://www.ncbi.nlm.nih.gov/pubmed/19192020.
  4. Jafferany M, Bhattacharya G. Psychogenic Purpura (Gardner-Diamond Syndrome). Prim Care Companion CNS Disord. January 22, 2015; 17(1):

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