Hughes Syndrome

What is Hughes Syndrome?

In the Hughes syndrome, immune system disorder leads to blood clotting disorder. Therefore, the probability of certain disorders are increased, like deep vein thrombosis, cardiac problems or stroke, in severe cases central nervous system disorders such as dementia, ataxia, vision impairment, speech difficulty and multiple sclerosis are also included. Alternatively, Hughes syndrome is also known as Antiphospholipid syndrome (APS).

Hughes syndrome can cause miscarriage and provides complication in pregnancy.

In the Hughes syndrome, arteries as well as veins can get affected. Veins are relatively thin walled and carry impure blood towards heart, whereas arteries are having thick wall and carry pure blood from hearts to entire body. Due to the clotting tendency in Hughes syndrome, patient may develop frequent thrombus (clot) formation, if these clots are originated in vein of the lower limb, then causes deep vein thrombosis or if arises are affected, then risk of stroke is increased due to impaired supply of blood in brain. ^(1,2,5)

Sign and Symptoms

The most frequently observed sign and symptoms in Hughes syndrome arise due to lack of treatment.

• Chronic headache due to Migraine
• Red rashes develops in the skin, which have a net like outline (livedo reticularis)
• Thrombocytopenia (reduced blood platelet count)
• Small Vein thrombosis
• Deep vein thrombosis (DVT)
• Thrombus formation in the arteries
• Heart valves deformity leads to cardiac disorders
• Stroke ⁽⁵⁾

Causes

Hughes syndrome is an autoimmune disorder, which leads to ‘sticky blood’ means circulating blood can easily clot due to increase of the thickness of the blood fluidity and looses it steady flow. The disorder of the immune system synthesizes antiphospholipid antibodies, an abnormal blood proteins, which is responsible for  aggregation of the blood platelets.

Phospholipids provide the outline of the phospholipid membranes that enclose the cellular organelles and helps to maintain the proper cellular content. In physiological temperature, the membrane is liquid in nature and permits cells to alter their formation due to substantial restraints or varying cellular volume.  The phospholipids and proteins that attach to phospholipids are targeted by antiphospholipid antibodies.  target the body’s own phospholipids, and also proteins that bind to phospholipids, which misbalances the cellular structure and leads to different cellular problems. ^(2,3)

Classification

Hughes syndrome is classified into two groups

• Primary Hughes syndrome: No association with other autoimmune diseases like systemic lupus erythematosus and develop in their own way. The most of the cases are the primary type.
• Secondary Hughes syndrome: This type is associated with the other health related problem which may affect the distant part of the body, including autoimmune diseases like systemic lupus erythematosus. ⁽⁵⁾

Diagnosis

The initial step of diagnosis begins with knowing the patient’s medical history, including any past incidence of deep vein thrombosis or pulmonary embolism. Symptomatic discussion also provides some clue of the onset of Hughes syndrome. Questioning about pregnancy related complications like miscarriages are also asked. Specific symptomatic analysis like livedo reticularis, in which red rashes prominent in knee and wrist.

Depending upon the above mentioned results, doctors may order a blood test which can detect the presence of responsible antibiodies i.e. ‘antiphospholipid antibodies’. Additional blood test may also conduct to rule out the other diseases association, systemic lupus erythematosus. ^(4,5)

Treatment

There is no treatment available for complete cure from Hughes syndrome.

The aim of the treatment is to provide symptomatic relieve and prevent complications. The different treatment approaches includes:

• Medicines like aspirin is prescribed in low doses for impeding the platelet aggregation.
• Anticoagulant therapy like heparin, warfarin is prescribed as single or combination therapy for thinning the blood.
• Steroidal drugs are given to control the swelling, specifically in case of association with lupus
• Antihypertensive drugs are prescribed for hypertensive patient and diabetes control measure should be taken to control diabetes, as hypertension or diabetes can increase the risk of stroke, heart attack or other related complications.
• Blood thinning agents may hamper normal clotting time and increase the duration of bleeding, which may dangerous in any small injury also, as it leads to prolonged bleeding. Therefore, periodic monitoring of the drug effect specifically bleeding time analysis is important.
• Stop smoking, balance diet and physical exercise are the different life style management, which provide beneficial effects to reduce symptoms and complications.

The survival rate with the Hughes syndrome is much higher than previous with different treatment measures, but most of the cases patient has to take the measure for life long. ⁽⁵⁾

Prognosis

Hughes syndrome can arise at any age, even infants and young aged children also get affected with this disease. The most incidence appear in the age between 20 to 50 years and females are more commonly affected than males. ⁽¹⁾

Complications

Pregnancy Related

One of the major cause of the repetitive miscarriage is Hughes syndrome. The etiology of his complication is due to stocky nature of blood do not frequently pass through placental barrier and insufficient blood and nutrients supply from mother to the fetus cause repetitive miscarriage and other complication like stillbirth or preterm delivery.

Catastrophic antiphospholipid syndrome

This is a fetal rarely occurs complication related to Hughes syndrome. In this complication, multiple clots are generated in different crucial organs, like heart, brain, lungs or liver.  The cause of this abnormality is unknown, but some experimental studies. The reason for this is unclear. However, studies show that a suspected bacterial or viral infection may trigger the condition. ^(1,2,4)

References

1. Antiphospholipid syndrome (APS)(2015); NHS choice; Retrieve from: http://www.nhs.uk/conditions/hughes-syndrome/pages/introduction.aspx
2. Hughes syndrome (2012); Better Health Channel; Retrieve from: https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/hughes-syndrome
3. Hughes Syndrome Symptoms; London Lupus Center; http://www.londonlupuscentre.co.uk/hughes-syndrome/symptoms/
4. William C. Shiel Jr.(2015); Antiphospholipid syndrome;  Retrieve from: http://www.medicinenet.com/antiphospholipid_syndrome/article.htm
5. The antiphospholipid syndrome (Hughes’ syndrome) (2005); retrieve from: http://www.netdoctor.co.uk/conditions/heart-and-blood/a1174/the-antiphospholipid-syndrome-hughes-syndrome/