Gardner-Diamond syndrome

Other Names: Autoerythrocyte sensitization; Psychogenic purpura; Autoerythrocyte sensitization purpura; Painful bruising syndrome; Autoerythrocyte sensitization syndrome

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.

Cause

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

• 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)

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.

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.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.

Bruises typically go away in approximately 7-10 days. 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.

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). 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.

Treatment

There is no specific treatment for Gardner-Diamond syndrome (GDS). It has been suggested that psychiatric treatment (including psychotherapy) is the only reasonable therapeutic option. 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.Due to the presumed psychological nature of the disease, placebo effect has been used successfully to ease the severity of symptoms.

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.

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

Prognosis

The overall outlook (prognosis) for people with Gardner-Diamond syndrome (GDS) is good. However, relapses and remissions are common and may last for several years. Remissions may be long-lasting. Relief of acute stress and psychological factors is crucial in longer remissions. Chronological recurrence around the anniversary mark of major life events is common.

In some cases, symptoms of GDS may persist and even worsen.The onset of new lesions is most probable after physical trauma or stress.

Epidemiology

Gardner-Diamond syndrome (GDS) is an extremely rare disorder. An article published in 2015 noted that about 200 cases worldwide have been reported in the literature since GDS was first described in the 1950s. Most cases reported have occurred in women ages 19-72, and mainly in women younger than age 30. Cases in men and in children have also been reported.

NIH genetic and rare disease info

• NIH info on Gardner-Diamond syndrome

Gardner-Diamond syndrome is a rare disease.

Gardner-Diamond syndrome Resources
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