connective tissues/ autoimmune diseases Flashcards
sarcoidosis
=a disease characterized by the growth of tiny collections of inflammatory cells (granulomas) in any part of your body — most commonly the lungs and lymph nodes. But it can also affect the eyes, skin, heart and other organs.
causes: body’s immune system responding to an unknown substance. Some research suggests that infectious agents, chemicals, dust and a potential abnormal reaction to the body’s own proteins (self-proteins) could be responsible for the formation of granulomas in people who are genetically predisposed.
symptoms: Fatigue, Swollen lymph nodes, Weight loss, Pain and swelling in joints, such as the ankles, Persistent dry cough, Shortness of breath, Wheezing, Chest pain, A rash of red or reddish-purple bumps, usually located on the shins or ankles, which may be warm and tender to the touch, Disfiguring sores (lesions) on the nose, cheeks and ears, Areas of skin that are darker or lighter in colour, Growths under the skin (nodules), particularly around scars or tattoos
risks: 20-60 yoa, People of African descent and those of Northern European descent, family history
Patho: granuloma= circumscribed and well organised area of granulomatous inflammation formed by epithelioid cells, lymphocytes, leukocytes and plasma cells
ehler’s danlos syndrome
=a group of 13 heritable connective tissue disorders. The conditions are caused by genetic changes that affect connective tissue. Each type of EDS has its own set of features with distinct diagnostic criteria. Some features are seen across all types of EDS, including joint hypermobility, skin hyperextensibility, and tissue fragility.
causes: genetics
symptoms: skin hyperextensibility, joint laxity, and fragile blood vessels. Scars are very thin, discolored, and stretch with time. Such paper-like (papyraceous) scarring occurs especially over prominent bony pressure points such as the knees, elbows, shins and forehead, heart valve deformity
Patho: inherited genetic mutations affecting collagen
marfans
=an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton
causes: a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.
Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder
symptoms: Tall and slender build, Disproportionately long arms, legs and fingers, A breastbone that protrudes outward or dips inward, A high, arched palate and crowded teeth, Heart murmurs, Extreme nearsightedness, An abnormally curved spine, Flat feet
risk factors: genetics
patho: Gene mutation (FBN1) affecting collagen production. This gene encodes a glycoprotein (fibrillin-1). The mutation usually affects a single amino acid of the protein. Reduced/ and normal fibrillin-1 leads to tissue weakness, increased transforming growth factor beta signalling, loss of cell matrix interactions and the afferent phenotypic manifestations of marfans
systemic lupus erthamatosus
=the most common type of lupus. SLE is an autoimmune disease in which the immune system attacks its own tissues, causing widespread inflammation and tissue damage in the affected organs. It can affect the joints, skin, brain, lungs, kidneys, and blood vessels.
causes: unknown, but are believed to be linked to environmental, genetic, and hormonal factors.
symptoms: fatigue, skin rashes, fevers, and pain or swelling in the joints, sun sensitivity, oral ulcers, arthritis, lung problems, heart problems, kidney problems, seizures, psychosis, and blood cell and immunological abnormalities
risk factors: people of all ages, including children. However, women of childbearing ages—15 to 44 years—are at greatest risk of developing SLE, blacks/African Americans, Hispanics/Latinos, Asians, and American Indians/Alaska Natives—are affected more than whites/Caucasians
patho: Multiple genes contribute to disease susceptibility. The interaction of sex, hormonal milieu, and the hypothalamo–pituitary–adrenal axis modifies this susceptibility and the clinical expression of the disease. Defective immune regulatory mechanisms, such as the clearance of apoptotic cells and immune complexes, are important contributors to the development of SLE. The loss of immune tolerance, increased antigenic load, excess T cell help, defective B cell suppression, and the shifting of T helper 1 (Th1) to Th2 immune responses leads to B cell hyperactivity and the production of pathogenic autoantibodies. Finally, certain environmental factors are probably required to trigger the disease.
vasculitis
=involves inflammation of the blood vessels. The inflammation can cause the walls of the blood vessels to thicken, which reduces the width of the passageway through the vessel. If blood flow is restricted, it can result in organ and tissue damage.
There are many types of vasculitis, and most of them are rare. Vasculitis might affect just one organ, or several. The condition can be short term or long lasting.
causes: Infections, such as hepatitis B and hepatitis C, Blood cancers, Immune system diseases, such as rheumatoid arthritis, lupus and scleroderma, Reactions to certain drugs
symptoms: Fever, Headache, Fatigue, Weight loss, General aches and pains, pain after eating, dizziness, tinnitus, foot numbness, shortness of breath
risk factors: before 50/ below 5, family history, lifestyle choices, infections, immune disorders, women
patho: Inflammation may be segmental or involve the entire vessel. At sites of inflammation, varying degrees of cellular inflammation and necrosis or scarring occur in one or more layers of the vessel wall. Inflammation in the media of a muscular artery tends to destroy the internal elastic lamina. Some forms of vasculitis are characterized by giant cells in the vessel wall
