Hereditary hemorrhagic telangiectasia, is also known as the Osler-Weber-Rendu Syndrome, Hereditary hemorrhagic telangiectasia effects approximately 1 in 5,000 people. It effects males and females from all racial ethnic groups. Dr. Rendu first described Hereditary hemorrhagic telangiectasia as a hereditary disorder involving nosebleeds and characteristic red spots that was distinctly different from hemophilia. HHT is a hereditary disorder that is passed down through generations, Its characterized by abnormal blood vessels. Blood vessels are the tubes that carry blood around our bodies. There are two types of blood vessels; arteries and veins. Arteries carry blood under high pressure out to all areas of the body after being pumped by the heart. Veins carry blood that should be under low pressure, back to the heart. An artery does not usually connect directly to a vein. Usually there are very small vessels called capillaries that connect an artery to a vein. A human with HHT has a tendency to form blood vessels that lack normal capillaries between an artery and vein. This means the arterial blood under high pressure flows directly into a vein without first having to squeeze through very small …show more content…
Patients also start to develop small red spots, or telangiectasia’s on the face, mouth, fingers, and in the gastrointestinal tract. A high number of HHT patients will also have or develop artery malformations (AVM’s) in one or ore body organs, where capillaries between arteries and veins are missing. Other common symptoms of HHT include: shortness of breath, exercise tolerance, fatigue, migraine headaches, seizures, abdominal pain, leg swelling, intestinal bleeding, anemia. Also very small proportion of patients have multiple benign polyps in the large intestine, which may bleed or transform into colorectal cancer. A similarly small proportion experiences pulmonary
It is very rare to have any one patient with all of these symptoms below:
The characteristic beginning signs of HF include inadequate tissue perfusion and signs of volume overload. Inadequate blood flow to tissues can be evident by fatigue, shortness of breath, and exercise intolerance. Volume overload is evident by peripheral and pulmonary edema (fluid collection in the limbs and on the lungs) and venous distention (due to blood pooling in circulation from back flow in the heart) (Lehne, 2010).
No history of skin disease. Skin is pink, dry, and void of bruising, rashes, or lesions. No recent hair loss; head is normocephalic. Pupils equally reactive to light; no history of glaucoma or cataracts. Ears are in normal alignment; no history of chronic infections, hearing loss, tinnitus, or discharge. Nose and sinus history includes clear nasal discharge “since last October”, and occasional nose bleeds; states she use to get nose bleeds often as a child. Mouth and throat are absent of lesions; no bleeding gums, sore throat, dysphagia, hoarseness, or altered taste. Neck is void of pain, swelling,
Hemochromatosis is hereditary and the most common genetic disease in the U.S. This genetic disease is passed on
People may not know they have hemochromatosis since in the early stages they may not have any symptoms. In this stage, the only way the disorder can be detected is through routine blood tests and the doctor noticing elevated iron levels in the blood. Usually, the first and most common symptoms of hemochromatosis is joint pain and fatigue, but these are symptoms which occur in several other diseases and disorders, so the diagnosis is frequently held up or even overlooked. “Pain in the knuckles of the pointer and middle finger, collectively called ‘The Iron Fist,’ is the only sign or symptom specific to hemochromatosis. However, not everyone with HHC experiences the Iron Fist” (“WHAT IS HEMOCHROMATOSIS?” n.d.).
No scalp lesions. Dry eyes with conjunctival injection. Mild exophthalmos. Dry nasal mucosa. Marked cracking and bleeding of her lips with erosions of the mucosa. She has a large ulceration of the mucosa at the bite margin on the left. She has some scattered ulcerations on her hard and soft palette. She has difficulty opening her mouth because of pain. Tonsils not enlarged. No visible exudate. SKIN: She has some mild ecchymosis on her skin and some erythema, she has some patches but no obvious skin breakdown. She had some fissuring in the buttocks crease. PULMONARY: Clear to precussion and auscultation, bilaterally. CARDIOVASCULAR: No murmurs or gallops noted. ABDOMEN: Soft, non-tender, protuberant, no organomegaly, and positive bowel sounds. NORALOGIC EXAME: Cranial nerves ii – xii are grossly intact, diffuse hyporeflexia. MUSCULAR SKELETAL: Erosive destructive changes in elbows, wrist, and hands consistent with rheumatoid arthritis. Has had bilateral total knee replacements with stovepipe legs and perimalledal pitting edema 1+. I feel no pulse distally in either leg. PHYCIATRIC: Patient is a little anxious about these new symptoms and there significance. We discussed her situation and I offered her psychiatric services, she refused for now.
Patient was in the ER room when first seen. PT was with her family members and family states that she speaks little English and that she has had abdominal pain for the past day along with bloody stools. Family states that she is on calcium supplements and no other medications. Last oral intake is 24 hours ago. Family states no known past medical history. Pt is in the hospital bed in the fetal position and towards the right side. Patient's airway is clear and breathing is normal. Skin is warm and dry. Patent is AAOx4. Assessment of head, neck, and chest show no signs of deformities. Abdominal area not assessed due to severe pain. Back is without deformity. The upper extremity shows no sign of deformities or trauma. The lower extremity shows
The general health of the patient is currently being compromised due to present illness mentioned above, but is stable. L.H. reports his usual health to be, “normal and not too crazy like this”. Patient has some fatigue noted while conducting daily activities; No recent weight change, fever or sweat. The skin noted to some discoloration on upper right side of back. There is no pruritus, rash or lesions present. Bruises noted bilateral on arms. Patient reported taking baby aspirin as daily medication. His hair is greying and thinning with no hair loss.
What parts of the body does it affect? How common is it? Are there multiple forms/causes for developing the condition? How long can an individual survive?
Hemochromatosis is a disease with signs and symptoms that are very “vague” and can be taken as symptoms for another disease. These nonspecific symptoms are usually the early signs of the disease. These symptoms are joint pain, fatigue, weakness, weight loss, stomach pain, impotence, early menopause and/or possible skin bronzing. Some symptoms may be more severe such as diabetes and heart failure. Yet, not all symptoms show which does make it harder to diagnose.
Upon assessment, I found that both her lower legs had +1 edema, were red, skin was a bit peeling, and warm to touch. She reported a bit of tenderness on palpation. The right leg, however, had black “scabs” towards the outer side; upon palpation, I noticed that they were under the skin and I could not feel any bumps. Other than her lower legs, her skin was dry and intact, color consistent with her ethnicity, no surgical incisions, and mucous membranes were pink, moist, and intact. She had a #22 IV in her left hand, and the IV site was clean. She was oriented x3, calm and cooperative, had clear speech, had no weakness, no flaccid tone, and no numbness. Her strength was normal in upper extremity, and her lower extremities moved against resistance. Her pupils were round, equal in size, and reactive to light. Her blood pressure was 133/76, heart rate 94, oxygen saturation of 98% on room air, respiratory rate of 18, oral temperature of 36.7
Common symptoms include fatigue, lethargy, weight loss, headaches, constipation, nausea, insomnia, metallic taste in mouth, reproductive problems, reduced cognitive ability and a bluish line along the
Others may experience tightening of chest, lack of energy, as well as weight loss. Many sufferers also report blueness of lips and fingernail beds, swelling in ankles and feet, and frequent respiratory infections.
The adult form of Schindler disease is also known as Schindler disease type II or Kanzaki disease.In this, symptoms might not appear until the third or second decade of life. A characteristic symptom of type II Schindler disease is involvement of tiny blood vessels called telangiectasia present in the skin that is responsible for small, reddish skin lesions, and an increase of its horny layer known stratum corneum; hyperkeratosis referred to as angiokeratomas. Small lymph vessels may undergo dilations which may lead to swelling or lymphedema mainly of the lower
TJ is a 25-year-old Hispanic female, born on September 21st 1991 in Queens, New York. Participant would be at risk for hypertension, diabetes, and heart failure based on familial history. Obesity would be one of the precursor that puts TJ at a higher risk for developing diabetes. Obesity comorbid with Asthma later in life puts TJ at higher risk for having respiratory failure. Hidradenitis Suppurativa (HS) is a debilitating autoimmune disorder. The lesions can cause agonizing pain, and discomfort that can interfere with activities of daily living. This can also impact activities that can help alleviate the symptoms such as exercise. The fact that TJ is obese, only exacerbates the symptoms of the condition. Since HS is an autoimmune disease,