Pathophysiology Connective Tissue Disorders PDF

UNIT II Genetic tissue disorders Disorders of connective tissue & muscles. INTRODUCTION: A connective tissue disease is any disease that affects the parts of the body that connect the structures of the body...

UNIT II Genetic tissue disorders Disorders of connective tissue & muscles. INTRODUCTION: A connective tissue disease is any disease that affects the parts of the body that connect the structures of the body together. Connective tissues are made up of two proteins: collagen and elastin. This type of disorders often involves the joints, muscles, and skin, but they can also involve other organs and organ systems, including the eyes, heart, lungs, kidneys, gastrointestinal tract, and blood vessels. There are more than 200 types of connective tissue diseases. What is CTD? Collagen is a protein found in the tendons, ligaments, skin, cornea, cartilage, bone and blood vessels. Elastin is a stretchy protein that resembles a rubber band and is the major component of ligaments and skin. When a patient has a connective tissue disease, the collagen and elastin are inflamed. The proteins and the body parts they connect are harmed. Types of CTD: Diseases of connective tissue can be divided in two groups: 1. Non heritable: acquired autoimmune and inflammatory diseases that usually happen later in life 2. Inheritable: hereditary this type is caused by a genetic defect that people have when they are born. Some connective tissue diseases -- often called heritable disorders of connective tissue (HDCTs) -- are the result of changes in certain genes. Many of these are quite rare. Following are some of the more common ones. Churg-Strauss syndrome: Inflammation in the blood vessels of the digestive system, skin, nerves, or lungs Dermatomyositis or polymyositis: Inflammation and degradation of muscle tissue that may eventually impact the skin as well Granulomatosis with polyangiitis: Blood vessel inflammation in organs like the nose, kidneys, or lungs Microscopic polyangiitis: A rare autoimmune disease that impacts blood vessels in various organs Rheumatoid arthritis: Inflammation in the membranes that surround the joints (a common autoimmune condition that affects women more often than men)  Scleroderma: Autoimmune condition that causes scars to form in the skin, internal organs, or small blood vessels and disproportionately impacts women of childbearing age Systemic lupus erythematosus: Connective tissue inflammation throughout the body Causes Connective Tissue Diseases These conditions can be caused inherited genes and are often known as heritable disorders of connective tissue. It can also be caused by things that exist in the environment known as a non-inherited causes of autoimmune types of connective tissue disease may include: Exposure to toxic chemicals, such as those found in air pollution and cigarette smoke. Exposure to ultraviolet light. Inadequate nutrition, including lack of vitamins D and C. Infections. General signs and symptoms: it can vary depending on the affected areas. General feeling of being unwell. This can include increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud's phenomenon). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fingers or hands. Some people have swelling of the fingers. Muscle and joint pain. Joints can become inflamed, swollen and deformed, similar to what occurs with rheumatoid arthritis. Rash. Red or reddish brown patches can appear over the knuckles. Eg: CT disorder symptoms involving the lungs may include: Difficulty breathing Shortness of breath Breathlessness Fatigue A cough with bloody phlegm Chest discomfort or pain Respiratory failure Diagnostic Procedures Thorough medical history, a family history, and will do a physical examination Imaging tests, such as X-rays and magnetic resonance imaging (MRI) scans. Tests for markers of inflammation, such as C-reactive protein and Erythrocyte sedimentation rate (ESR). CBC : Patients with connective tissue disease may show signs of mild anemia (low numbers of oxygen-carrying red blood cells), thrombocytopenia (low numbers of platelets, which assist in blood clotting), and leukopenia (low numbers of infection-fighting white blood cells), which may be detected with a complete blood count (CBC) Tests for antibodies, especially for autoimmune conditions. Tests for dry eyes or dry mouth. Blood and urine tests. Tissue biopsy. Treatment: Treatments will vary depending on the type of connective tissue disorder diagnosis the patient receives. Corticosteroids may be used to reduce inflammation for a short period or indefinitely. Some conditions can affect a patient’s daily life, so physical and occupational therapy may be used to manage symptoms and help patients adjust to living and working situations. Physical aids such as braces or a cane may also be needed. For some patients, pain management may be needed. Choosing the right treatment requires careful consideration of the risks and benefits, along with close collaboration with a neurologist WATCH VIDEO https://www.youtube.com/watch?v=zd-_JbAvzbw Connective Tissue Disease by Mary Anne Dunkin;2021. https://www.webmd.com/a-to-z- guides/connective-tissue-disease Labs and Tests. By Anastasia Climan, RDN, CD-N. Published on March 01, 2021. Medically reviewed by Eva Umoh Asomugha, M.D. https://www.verywellhealth.com/how-connective-tissue-diseases-are- diagnosed-5105000