Systemic lupus erythematosus

Systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is a long-term autoimmune disorder that may affect the skin, joints, kidneys, brain, and other organs.

Causes

The cause is unknown. Research involves:

• The role of viruses
• Hormonal factors (the female predominance and peak incidence in women of childbearing age is circumstantial evidence for hormonal factors in the pathogenesis of SLE)
• Genetic abnormalities (they may create a tendency for autoimmune responses, which are then triggered by additional factors, such as viruses or sunlight)
• Environmental factors (virus, sunlight)
• Immune complex formation - many of the clinical manifestations are due to the effects of circulating immune complexes on various tissues or to the direct effects of antibodies to cell-surface components

Signs and symptoms

Patients may present with any of the following manifestations^[4] :

• Constitutional (e.g. fatigue, fever, arthralgia, weight changes)
• Musculoskeletal (e.g. arthralgia, arthropathy, myalgia, frank arthritis, a vascular necrosis)
• Dermatologic (e.g. malar rash, photosensitivity, discoid lupus)
• Renal (e.g. acute or chronic renal failure, acute nephritic disease)
• Neuropsychiatry (e.g. seizure, psychosis)
• Pulmonary (e.g. pleurisy, pleural effusion, pneumonitis, pulmonary hypertension, interstitial lung disease)
• Gastrointestinal (e.g. nausea, dyspepsia, abdominal pain)
• Cardiac (e.g. pericarditis, myocarditis)
• Hematological (e.g. cytopenias such as leucopenia, lymphopenia, anemia, or thrombocytopenia)

In patients with suggestive clinical findings, a family history of autoimmune disease should raise further suspicion of SLE.

The following are useful standard laboratory studies when SLE is suspected:

• CBC with differential
• Serum creatinine
• Urinalysis with microscopy

Other laboratory tests that may be used in the diagnosis of SLE are as follows:

• ESR or CRP results
• Complement levels
• Liver function tests
• Creatine kinase assay
• Spot protein/spot creatinine ratio
• Autoantibody tests

The following imaging studies may be used to evaluate patients with suspected SLE:

• Joint radiography
• Chest radiography and chest CT scanning
• Echocardiography
• Brain MRI/ MRA

Procedures that may be performed in patients with suspected SLE include the following:

• Arthrocentesis
• Lumbar puncture
• Renal biopsy

Treatment

Management of SLE often depends on the individual patient’s disease severity and disease manifestations although hydroxychloroquine has a central role for long-term treatment in all SLE patients.

Medications used to treat SLE manifestations include the following:

• Biologic DMARDs (disease-modifying ant rheumatic drugs): Belimumab, rituximab, IV immune globulin
• No biologic DMARDS: Cyclophosphamide, methotrexate, azathioprine, mycophenolate, cyclosporine
• No steroidal anti-inflammatory drugs (NSAIDS; e.g. ibuprofen, naproxen, diclofenac)
• Corticosteroids (e.g. methylprednisolone, prednisone)
• Antimalarials (e.g. hydroxychloroquine)

Sickle cell anemia

Sickle cell anemia

Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal sickle or crescent shape. Red blood cells carry oxygen to the body and are normally shaped like a disc.

Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain an iron-rich protein called hemoglobin . This protein carries oxygen from the lungs to the rest of the body.

Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain and organ damage. It can also raise the risk for infection.

Causes

Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen.

• Hemoglobin S changes the shape of red blood cells. The red blood cells become shaped like crescents or sickles.
• The sickle-shaped cells deliver less oxygen to the body's tissues.
• They can also get stuck more easily in small blood vessels, as well as break into pieces that can interrupt healthy blood flow. These problems decrease the Sickle cell anemia is inherited from both parents. If you inherit the sickle cell gene from only one parent, you will have sickle cell trait. People with sickle cell trait do not have the symptoms of sickle cell anemia.

Symptoms

Symptoms usually do not occur until after age 4 months.

Almost all patients with sickle cell anemia have painful episodes (called crises), which can last from hours to days. These crises can cause pain in the bones of the back, the long bones, and the chest.

Some patients have one episode every few years. Others have many episodes per year. The crises can be severe enough to require a hospital stay.

When the anemia becomes more severe, symptoms may include:

• Fatigue
• Paleness
• Rapid heart rate
• Shortness of breath
• Yellowing of the eyes and skin (jaundice)

Younger children with sickle cell anemia have attacks of abdominal pain.

The following symptoms may occur because small blood vessels may become blocked by the abnormal cells:

• Painful and prolonged erection (priapism)
• Poor eyesight or blindness
• Problems with thinking or confusion caused by small strokes
• Ulcers on the lower legs (in adolescents and adults)

Over time, the spleen no longer works. As a result, people with sickle cell anemia may have symptoms of infections such as:

• Bone infection (osteomyelitis)
• Gallbladder infection (cholecystitis)
• Lung infection (pneumonia)
• Urinary tract infection

Other symptoms include:

• Delayed growth and puberty
• Painful joints caused by arthritis 
• Exams and Tests
  Tests commonly performed to diagnose and monitor patients with sickle cell anemia include:
• Bilirubin
• Blood oxygen
• Complete blood count (CBC)
• Hemoglobin electrophoresis
• Serum creatinine
• Serum potassium
• Sickle cell test

Treatment

The goal of treatment is to manage and control symptoms, and to limit the number of crises. Patients with sickle cell disease need ongoing treatment, even when they are not having a painful crisis. It is best to receive care from health care providers and clinics that take care of many patients with sickle cell anemia.

Folic acid supplements should be taken. Folic acid is needed to make new red blood cells.

Treatment for a sickle cell crisis includes:

• Blood transfusions (may also be given regularly to prevent stroke)
• Pain medicines
• Plenty of fluids

Other treatments for sickle cell anemia may include:

• Hydroxyurea (Hydrea), a medicine that may help reduce the number of pain episodes (including chest pain and difficulty breathing) in some people
• Antibiotics to prevent bacterial infections, which are common in children with sickle cell disease

Treatments that may be needed to manage complications of sickle cell anemia include:

• Dialysis or kidney transplant for kidney disease
• Counseling for psychological complications
• Gallbladder removal in people with gallstone disease
• Hip replacement for a vascular necrosis of the hip
• Surgery for eye problems
• Treatment for overuse or abuse of narcotic pain medicines
• Wound care for leg ulcers

Bone marrow or stem cell transplants can cure sickle cell anemia. However, they are currently not an option for most patients. Sickle cell anemia patients are often unable to find well-matched stem cell donors.

People with sickle cell disease must reduce their risk of infections. This includes receiving certain vaccinations, including:

• Haemophilus influenza vaccine (Hib)
• Pneumococcal conjugate vaccine (PCV)
• Pneumococcal polysaccharide vaccine (PPV)

Pancytopenia

Pancytopenia

Pancytopenia is a deficiency of all types of blood cells, including white blood cells, red blood cells, and platelets. It occurs when your body cannot produce enough blood cells because the bone marrow stem cells that form blood cells do not function normally. Pancytopenia has widespread effects on the entire body by leading to oxygen shortage as well as problems with immune function. A plastic anemia is a medical term that refers to a decrease in production of all types of blood cells.

Pancytopenia occurs in two forms: idiopathic, in which the cause is not known, but is often autoimmune, meaning that the body attacks its own tissues as foreign substances; and secondary, often caused by environmental factors. Approximately half of all pancytopenia cases are idiopathic. In other cases, viral infections, radiation or chemotherapy treatments, drug reactions, and exposure to toxins may precipitate the development of pancytopenia.

Pancytopenia may develop slowly over time or suddenly, and it can progress in a variety of ways.

causes

Pancytopenia can be caused by heredity, medications, or exposure to environmental contaminants such as radiation or arsenic. In approximately half of cases, called idiopathic cases, the exact cause of the pancytopenia is not known. It may be linked to an autoimmune disorder, in which the body’s immune system attacks its own tissues as foreign substances, or an environmental contaminant. In rare cases, pregnancy can lead to autoimmune processes that may trigger Pancytopenia

It is important for your health care professional to determine the cause of pancytopenia in order to recommend the appropriate treatment. For example, pancytopenia caused by an environmental contaminant may spontaneously resolve when the contaminant is removed.

Environmental causes of pancytopenia

Environmental factors, such as medications, toxins or infections, have been identified as causes of pancytopenia in some cases. Examples include:

• Certain medications, including some antibiotics and immunosuppressant drugs
• Chemical toxins such as benzene              
•   Chemotherapy
• Radiation exposure                                 
•      Viral infections

Signs and symptoms

You may experience pancytopenia symptoms daily or just once in a while. At times, any of these symptoms can be severe:

• Bleeding gums                                 
•  Fatigue
• Frequent infections                            
•  Nosebleeds
• Pale skin or pallor                            
•  Rapid heart rate (tachycardia)
• Rash                                                      
•   Shortness of breath
• Skin discoloration such as bruising       
•  Weakness (loss of strength)

Serious symptoms that might indicate a life-threatening condition

• Confusion or loss of consciousness for even a brief moment
• Excessive bleeding without apparent cause
• Extreme fatigue, weakness, or shortness of breath
• High fever (higher than 101 degrees Fahrenheit)

Reducing your risk of pancytopenia

Although pancytopenia is unavoidable in many cases, you may be able to lower your risk of pancytopenia by:

• Avoiding environmental contaminants (for example, benzene or arsenic)
• Avoiding radiation exposure

Treatment

In very mild cases of pancytopenia, treatment may not be necessary. In moderate cases, blood transfusions may help restore blood cell counts; however, transfusions may become less effective over time. In severe cases, treatments such as bone marrow transplant and stem cell therapy may be required to restore the ability of bone marrow to produce blood cells. Such treatments are generally effective in younger patients, but older patients may also require the use of immunosuppressant drugs or drugs that stimulate the bone marrow

In cases related to environmental factors, pancytopenia may resolve on its own when the precipitating factor is removed or the underlying condition is treated.

Immunosuppressant medications used to treat pancytopenia

If the immune system is suspected of attacking bone marrow, immunosuppressant drugs may be administered. Examples include:

• Antithymocyte antibodies (Thymoglobulin), which suppress the body’s natural immune response
• Corticosteroids, such as methylprednisolone (Medrol, Solu-Medrol)
• Cyclophosphamide (Cytoxan)
• Cyclosporine (Sand immune, Neural)

Bone marrow–stimulating drugs used to treat pancytopenia

Sometimes, drugs that stimulate bone marrow function are prescribed. Examples include:

• Epoetin alfa (Epogen, Procrit)                  Filgrastim (Neupogen)
• Pegfilgrastim (Neulasta)                           Sargramostim (Leukine, Prokine)

What are the potential complications of pancytopenia?

Left untreated, pancytopenia is extremely serious and can lead to life-threatening bleeding and infections. In younger patients, treatments such as bone marrow transplant and blood transfusion are generally successful at treating pancytopenia, but complications tend to be more severe in the elderly. You can help minimize your risk of serious complications by following the treatment plan you and your health care professional design specifically for you.

Complications of pancytopenia or its treatment include:

• Bleeding in the brain
• Complications from blood transfusions
• Complications from medications used to treat the condition
• Poor reaction to bone marrow transplant (graft rejection)
• Sepsis (life-threatening bacterial blood infection)
• Severe bleeding