CONDITIONS

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Acquired von Willebrand disease

Acquired von Willebrand disease or syndrome (AVWS) is a rare bleeding disorder, which usually occurs in elderly patients, that is frequently unrecognized or misdiagnosed as von Willebrand disease.  Symptoms include nosebleeds with no previous history of bleeding abnormalities. AVWS may result from lymphoproliferative disorders, autoimmune disorders, heart conditions, and certain drugs. No evidence-based guidelines for management exist, however, treatment includes chemo/radiotherapy, surgery, or immunosuppressants.  Intravenous immunoglobulins have also shown some efficacy especially cases associated with monoclonal gammopathies.

Aplastic anemia

Aplastic anemia is a rare & serious condition that occurs because of damage to stem cells inside the bone marrow.  Bone marrow is a red, sponge-like tissue within your bones that produces stem cells. The most common form of bone marrow damage is one’s immune system mistakenly targeting the stem cells in your bone marrow which is a kind of autoimmune disorder.  Symptoms of aplastic anemia include fatigue and high risk of infection as well as uncontrolled bleeding.

Treatment may include medications, blood transfusions or stem cell transplants.  Diagnosis requires a bone marrow aspiration and biopsy in order to investigate cells.  Kidney function may also be studied. There is generally no prevention for most cases of aplastic anemia.  Avoiding exposure to insecticides, herbicides, organic solvents, paint removers, and other toxic chemicals may lower your risk of the disease.

Autoimmune hemolytic anemia (AIHA)

Autoimmune hemolytic anemia (AIHA) is a group of rare but serious blood disorders characterized by a malfunction of the immune system.  They occur when the body destroys red blood cells more rapidly than it produces them. Symptoms may include unusual weakness and fatigue with rapid heartbeat or breathing difficulties, jaundice, dark urine, or splenomegaly (abdominal fullness related to an enlarged spleen).  

Autoimmune hemolytic anemia can be caused by or occur with another disorder such as lupus or a lymphoma.  Blood tests are used to detect anemia and determine the cause of the autoimmune reaction. Treatment is corticosteroids or other drugs that suppress the immune system and sometimes, splenectomy or surgical removal of the spleen.

Autoimmune thrombocytopenia (AITP)

Autoimmune thrombocytopenia (AITP) is a disorder of low platelet counts.  Platelets are particles found amongst red & white blood cells that play a role in the process of blood clotting.  Symptoms may include bruising, bleeding, and pinpoint-sized reddish purple spots (or petechiae) on the lower legs.  

Acute ITP generally lasts less than six months mainly occurring in children post-viral infection whereas chronic ITP lasts longer than six months affecting adults.  Patients with chronic AITP are refractory to standard therapies including corticosteroids, immune globulin, and splenectomy.

Chronic lymphoblastic leukemia (CLL)

Chronic lymphoblastic leukemia (CLL) is a type of cancer of the blood and bone marrow.  The term “chronic” comes from the fact that it typically progresses more slowly than other types of leukemia.  It is a type of cancer that starts in cells that become certain white blood cells (lymphocytes) in the bone marrow.  The cancer or leukemia cells start in the bone marrow but then go into the blood. Many do not have symptoms for at least a few years.  But over time, the cells grow and spread to other parts of the body such as the lymph nodes, liver, and spleen.

CLL most commonly affects adults.  A family history of chronic lymphoblastic leukemia or other blood and bone marrow cancers may increase your risk.  Exposure to certain chemicals, for example Agent Orange used during the Vietnam War, have been linked to an increased risk of CLL.  Symptoms can include the following: fatigue, weight loss, fever, night sweats, swollen lymph nodes, and pain in the upper portion of the abdomen, which may be caused by an enlarged spleen.  People have a higher risk of infections since their immune systems are not working as well as they should. CLL is a cancer of B lymphocytes, which normally make antibodies that help fight infection.  

Chemotherapy, including targeted medicines, are used to treat chronic lymphoblastic leukemia.  Blood or platelet transfusions may be required if blood counts are low. Bone marrow transplantation may be used in younger patients with advanced or high-risk CLL.  It is the only therapy that offers a potential cure.

Chronic inflammatory demyelinating polyneuropathy (CIDP)

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare neurological disorder characterized by progressive weakness and impaired sensory function in the legs and arms.  Inflammation of nerve roots & peripheral nerves and destruction of fatty protective covering (myelin sheath) over the nerves affects how fast the nerve signals are transmitted.

Patients may experience fatigue, clumsiness, as well as burning, tingling, and numbness in extremities.  Chief symptoms are slowly progressive in a relapsing manner. The necessary duration of symptoms needs to be greater than eight weeks in order to receive a diagnosis.  Although the cause of CIDP is unknown, there are strong indications that it is an autoimmune disease.


Dermatomyositis

Dermatomyositis is an uncommon inflammatory disease marked by muscle weakness and a distinctive reddish-purple skin rash.  The condition is most common in adults in their late 40s to early 60s or children between 5-15 years of age. Adults may experience weight loss or a low-grade fever, have inflamed lungs, and be sensitive to light.  Patients may develop calcium deposits, which appear as hard bumps under the skin or in the muscle. Symptoms of dermatomyositis are manageable despite there being no known cure.

Drugs such as prednisone can control symptoms quickly.  Rituxan, most commonly used to treat rheumatoid arthritis, is an option if initial therapies don’t adequately control symptoms.  Intravenous immunoglobulin (IVIg) is a purified blood product that contains healthy antibodies from thousands of blood donors. These antibodies can block the damaging antibodies that attack muscle and skin in dermatomyositis.  IVIg treatments are expensive and may need to be repeated regularly for the effects to continue.


Immune-mediated neutropenia/Autoimmune neutropenia (AIN)

Autoimmune neutropenia (AIN) is a heterogeneous disorder that is characterized by a decreased neutrophil count in the setting of defects in cell-mediated or humoral immunity.  The neutropenia can be an isolated clinical finding, or can be associated with defects in other hematopoietic lineages. There are no well-established tests to confirm the diagnosis of immune neutropenia, and it remains largely a diagnosis of exclusion.

The mechanism of neutropenia in autoimmune neutropenia is varied and not well understood.  Peripheral destruction of neutrophils is the hallmark of AIN, although there is often a component of reduced neutrophil production, presumably due to immune destruction of neutrophil precursors.  Neutrophil destruction may be mediated by neutrophil-specific antibodies, immune complex binding, or cell-mediated cytotoxicity.

Treatment consists of corticosteroids to reduce autoantibody production, antibiotics to prevent infection, and granulocyte colony-stimulating factor (G-CSF) to temporarily increase neutrophil counts.  In cases of severe infection or the need for surgery, intravenous immunoglobulin (IVIg) therapy may be used.

Kawasaki disease

Kawasaki disease is a condition that causes inflammation in the walls of some blood vessels in the body.  This can damage the coronary arteries, the vessels that carry blood to the heart. The disease is sometimes called mucocutaneous lymph node syndrome since it also affects lymph nodes, skin, and mucous membranes inside the mouth, nose, and throat.

The disease almost always affects children, specifically boys, under the age of five.  It is most common in those of Japanese & Korean descent. Symptoms include high fever, swollen lymph nodes, and peeling skin.  Pediatricians may order blood testing as well as a chest x-ray or electrocardiogram (EEG) in order to evaluate how the disease has affected the heart.

Lyme disease

Lyme disease (LD) is a bacterial infection caused by the bacteria Borrelia burgdorferi.  It is transmitted by the bite of an infected black-legged tick, commonly known as the deer tick.  The bacteria enters your skin & eventually make their way into your bloodstream. To contract Lyme disease, a deer tick must be attached for 36-48 hours.  Symptoms are wide-ranging usually occurring within a month of the bite. The first symptom is usually a red rash resembling a bull’s eye. As the infection spreads to other parts of the body, one may experience fever, headache, body aches, stiff neck, and fatigue.  

Lyme disease can be difficult to diagnose since many of the symptoms are like those of the flu.  Antibiotics can cure most cases, however, some do not fully recover. This condition is called post-treatment Lyme disease syndrome (PTLDS).  Experts believe that the disease damages your immune system and tissues. Your damaged immune system continues to respond to the infection even after the bacteria are destroyed which causes symptoms.  PTLDS can significantly impact patients’ health and quality of life. Symptoms such as severe fatigue, musculoskeletal pain, and cognitive problems can be debilitating. Intravenous therapies deliver vitamins, minerals, and amino acids directly into the bloodstream.  This direct method delivers a high level of nutrients to the body’s cells improving energy, decreasing pain, and aiding the immune system in repairing cell & nerve damage. Eventually, with these nutrients, cells start functioning correctly.

Multiple sclerosis

Multiple sclerosis (MS) is a potentially debilitating disease of the brain and spinal cord.  In MS, the immune system T cells pass from the bloodstream into the central nervous system to attack the myelin coating around nerve fibers.  Multiple sclerosis means “scar tissue in multiple areas”. These lesions develop along affected nerve fibers that are visible in MRI scans.

The cause of MS remains unknown, however, scientists believe the disease is triggered by an unidentified environmental factor in a person who is genetically predisposed to respond.  Multiple sclerosis affects more than 2 million people worldwide. MS is most commonly diagnosed in individuals between the ages of 20 and 40 years of age. Women are more susceptible than men by a ratio of 3 to 1.  

Symptoms include sudden decrease in, blurred, or double vision as well as numbness or weakness in arms or legs.  Some people with severe MS may lose the ability to walk independently or at all, while others may experience long periods of remission without any new symptoms.  Interruptions in signals between the brain and urinary tract and bowel system may occur causing constipation, diarrhea, or incontinence. Mental health complications, such as depression and bipolar affective disorder, are common amongst those living with MS.  

Considering there are no specific tests for MS, diagnosis relies on ruling out other conditions that might produce similar signs & symptoms.  Blood tests, lumbar puncture, and MRI are typically ordered during the diagnosis process. There is no cure for multiple sclerosis. Treatment focuses on speeding recovery from attacks, slowing disease progression, and managing symptoms.  Corticosteroids & plasmapheresis are most commonly used to treat attacks. Much of the immune response associated with MS occurs in the early stages of the disease. Aggressive treatment with oral, injectable, and infusion medication as early as possible can lower the relapse rate and slow the formation of new lesions.

Myasthenia gravis

Myasthenia gravis (MG) is a chronic autoimmune disease characterized by fluctuating weakness and rapid fatigue of the voluntary muscle groups.  The name myasthenia gravis, which is Latin and Greek in origin, means “grave muscular weakness”. In MG, your immune system produces antibodies that block or destroy many muscles’ receptor sites for a neurotransmitter called acetylcholine.  

Patients present with muscle weakness which worsens with continued activity and improves with rest.  Certain muscles such as those that control eye and eyelid movement as well as facial expression, chewing, talking, and swallowing are often involved in the disorder.  The course of myasthenia gravis is highly variable. A myasthenic crisis is a medical emergency resulting in respiratory failures that requires intubation and mechanical ventilation.

Tests used to make a diagnosis include blood, nerve, muscle, and imaging exams.  Corticosteroids and immunosuppressants may be used to suppress the abnormal action of the immune system occurring in MG.  A thymectomy is the surgical removal of the thymus gland. The thymus has been demonstrated to play a role in the development of myasthenia gravis.  Plasmapheresis and intravenous immune globulins (IVIg) are sometimes used to affect the function or production of the abnormal antibodies. Although there is no known cure for MG, effective treatments allow many to lead full lives.

Patients with acquired clotting factor inhibitors

Acquired inhibitors of coagulation are antibodies that either inhibit the activity or increase the clearance of a clotting factor.  These disorders may be the consequence of many underlying conditions, and although they may share abnormality of a coagulation test their clinical effects are diverse and often opposing.  

Hemophilia is a condition in which blood does not clot normally.  Acquired hemophilia is a non-inherited condition. It is rare and has an autoimmune-related etiology with no genetic inheritance pattern.  Advances in treatment over the last several decades have allowed a near-normal lifestyle and lifespan for most patients with hemophilia A and B.

Pediatric HIV-1 infection

Pediatric HIV infection can present in neonates, children, or adolescents.  Approximately 1.8 million children below fifteen years of age are living with HIV/AIDS worldwide.  The overwhelming majority live in sub-Saharan Africa. Pediatric HIV infection results from mother-to-child transmission, where the virus is passed from a mother living with HIV to her baby during pregnancy, childbirth, or breastfeeding.  Children are more severely affected since their immune system’s are not fully developed to fight common infections.

The most effective method to preventing mother-to-child transmission of HIV is antiretroviral therapy, or ART.  Antiretroviral (ARV) drugs can be administered to the mother starting in early pregnancy then to her infant at delivery.  Extending the course of ARVs through the breastfeeding period decreases the likelihood of transmission via breast milk. There is no cure for HIV infection, however, early diagnosis is critical.

Unfortunately, without treatment, one-half of infected infants will die before their second birthday.  The number of cases among children in the United States is decreasing due to increased success in preventing perinatal transmission as well as access to effective treatments.

Peripheral neuropathy

Peripheral neuropathy is a general term for a series of disorders that result from damage to the body’s peripheral nervous system.  The peripheral nerves send messages from the central nervous system, the brain, and the spinal cord to the rest of the body. Peripheral neuropathy can affect multiple nerves (polyneuropathy) or only one nerve or nerve group (mononeuropathy) at a time.  

People with peripheral neuropathy generally describe the pain as stabbing, burning, or tingling. In many cases, symptoms improve, especially if caused by a treatable condition.  Causes can be both inherited and acquired.  Diabetes is the most common cause of chronic peripheral neuropathy.  It occurs when high blood sugar levels damage the nerves.  Some autoimmune diseases including rheumatoid arthritis and systemic lupus may play a role in peripheral neuropathy.  Treatment targets the underlying cause or aims to provide symptomatic pain relief and prevent further damage. Peripheral neuropathy affects about 20 million people in the United States.

Polyneuropathy

Polyneuropathy, the most common form of a group of disorders known as peripheral neuropathy, is caused by damage to nerves in roughly the same area on both sides of the body.  It can affect nerves responsible for feeling (sensory neuropathy), movement (motor neuropathy), or both (sensorimotor neuropathy). Polyneuropathy can produce a variety of symptoms including weakness, numbness, and burning pain.  

Acute forms of polyneuropathy occur when the condition is sudden and symptoms are severe.  This is common when you have an autoimmune reaction of infection causing nerve damage. A serious but rare form of acquired polyneuropathy is Guillain-Barre syndrome (GBS), a disease that strikes suddenly when the body’s immune system attacks peripheral nerves.  

Treatment of polyneuropathy is determined on a case by case basis.  A doctor may prescribe pain medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs), to manage the discomfort from nerve damage.  Lifestyle changes may also be encouraged. In the case where an autoimmune disease may be causing polyneuropathy, suggested therapies may include corticosteroids, intravenous immunoglobulin (IVIg), and plasma exchange.  Early treatment is the best way to keep polyneuropathy from disrupting your life.

Primary immunodeficiency diseases

Primary immunodeficiency diseases (PIDD) are rare, genetic disorders that weaken the immune system allowing infection. Over 300 forms of PIDD have been identified affecting approximately 500,0000 people in the United States.  

Serious primary immunodeficiency diseases become apparent in infancy while milder forms take a pattern of recurrent infections before being suspected.  Signs of PIDD include frequent and recurrent pneumonia, bronchitis, meningitis, and sinus & ear infections. Many experience abdominal pain or digestive problems due to liver or spleen enlargement.  Infants and young children may experience delayed growth & development.

Antibiotics are prescribed as soon as fever or signs on an infection develop.  Intravenous immune globulin may be given to patients with too few or non-functioning antibodies.  Stem cell transplantation in severe instances can correct some immunodeficiency disorders.

Red blood cell aplasia

Pure red blood cell aplasia (PRCA) is a rare, generally chronic disorder marked by the reduction or absence of erythroid precursors from the bone marrow.  The amount of white blood cells and platelets remain normal. Symptoms resulting from anemia include fatigue, lethargy, and abnormal paleness of the skin (pallor).  

Red blood cell anemia is thought to be an autoimmune disorder possible caused by a tumor of the thymus gland, certain drugs, or a viral infection.  The main goals of treatment are to restore red blood cell production and treat any underlying disorders. Blood transfusions, corticosteroids, and immunosuppressive therapy are examples of common treatments.


Rheumatoid arthritis

Rheumatoid arthritis (RA) is a chronic inflammatory condition affecting up to 1% of the world’s population and over 1.5 million people in America.  An autoimmune disease, rheumatoid arthritis occurs when the immune system mistakenly attacks your own body’s tissues. It primarily affects the small joints of the hands and feet and, if not treated aggressively, can be a major cause of work loss, decreased quality of life, need for joint replacement surgery, and mortality.  Women, typically between 30-60 years of age, are more likely than men to develop rheumatoid arthritis.

No one knows what causes RA, however, genes, environments, and hormones might contribute.  In its early stages, rheumatoid arthritis may resemble other forms of inflammatory arthritis.  To make a clinical diagnosis, the rheumatologist will ask questions about family medical history, perform a physical exam, and order diagnostic testing.  Starting medication as soon as possible helps prevent permanent damage. Disease-modifying antirheumatic drugs, referred to as DMARDs, not only relieve symptoms but also slow progression of any joint damage. The goal of treatment is to improve joint pain and swelling in order to perform daily activities.


Small fiber neuropathy

Small fiber sensory neuropathy (SFSN) is a disorder in which only the small sensory cutaneous nerves are affected   It is caused by damage to the small, unmyelinated fibers in the peripheral nerves that innervate the skin and internal organs including the cardiovascular system, gastrointestinal tract, and bladder.  

The majority of patients experience sensory disturbances that start in the feet and progress. Diagnosis of small fiber neuropathy is determined primarily by the history and physical exam.  However, functional neurophysiologic testing and skin biopsy evaluation can provide diagnostic confirmation. Treatment is directed at both the underlying cause and at improving the symptoms.

upwards. The symptoms of small fiber sensory neuropathy are primarily sensory in nature and include unusual sensations such as pins-and-needles, pricks, tingling, and numbness. Some patients may experience burning pain or coldness and electric shock-like brief painful sensations.