Post on HHT (Osler Weber Rendu)

HHT (Osler Weber Rendu)

230px-Case_115Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is an autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.

It may lead to nosebleeds, acute and chronic digestive tract bleeding, and various problems due to the involvement of other organs. Treatment focuses on reducing bleeding from blood vessel lesions, and sometimes surgery or other targeted interventions to remove arteriovenous malformations in organs. Chronic bleeding often requires iron supplements and sometimes blood transfusions. HHT is transmitted in an autosomal dominant fashion, and occurs in one in 5,000 people.  It is lethal if you were homozygous for the disease.

The disease carries the names of Sir William Osler, Henri Jules Louis Marie Rendu, and Frederick Parkes Weber, who described it in the late 19th and early 20th centuries.[3]Osler Weber

 

Signs and symptoms

220px-TongueTelangTelangiectasiasTongue telangiectases as seen in a person with hereditary hemorrhagic telangiectasia
Telangiectasia (small vascular malformations) may occur in the skin and mucosal linings of the nose and gastrointestinal tract. The most common problem is nosebleeds (epistaxis), which happen frequently from childhood and affect about 90–95% of people with HHT. Lesions on the skin and in the mouth bleed less often but may be considered cosmetically displeasing; they affect about 80%. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun-exposed areas. They appear suddenly, with the number increasing over time.About 20% are affected by symptomatic digestive tract lesions, although a higher percentage have lesions that do not cause symptoms. These lesions may bleed intermittently, which is rarely significant enough to be noticed (in the form of bloody vomiting or black stool), but can eventually lead to depletion of iron in the body, resulting in iron-deficiency anemia.

Arteriovenous malformations

220px-AVM_grosslyArteriovenous malformation (AVM, larger vascular malformations) occur in larger org

ans, predominantly the lungs (50%), liver (30–70%) and the brain (10%), with a very small proportion (<1%) having AVMs in the spinal cord.

Vascular malformations in the lungs may cause a number of problems. The lungs normally “filter out” bacteria and blood clots from the bloodstream; AVMs bypass the capillary network of the lungs and allow these to migrate to the brain, where bacteria may cause a brain abscess and blood clots may lead to stroke.  HHT is the most common cause of lung AVMs: out of all people found to have lung AVMs, 70–80% are due to HHT. Bleeding from lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) or hemothorax (blood accumulating in the chest cavity). Large vascular malformations in the lung allow oxygen-depleted blood from the right ventricle to bypass the alveoli, meaning that this blood does not have an opportunity to absorb fresh oxygen. This may lead to breathlessness.  Large AVMs may lead to platypnea, difficulty in breathing that is more marked when sitting up compared to lying down; this probably reflects changes in blood flow associated with positioning. Very large AVMs cause a marked inability to absorb oxygen, which may be noted by cyanosis (bluish discoloration of the lips and skin), clubbing of the fingernails (often encountered in chronically low oxygen levels), and a humming noise over the affected part of the lung detectable by stethoscope.

The disesas is more prevelent in males with increased problems in females postmenapausally, thus estrogen has been proposed as a treatment.  Reasonable to screen children of patients.  Minimally with a CXR.  Patients blood studies are completely normal.  The anomaly is the absence of muscle, fibrin, and elastin in the walls of the blood vessels.

Nosebleeds
An acute nosebleed may be managed with a variety of measures, such as packing of the nasal cavity with absorbent swabs or gels. Removal of the packs after the bleeding may lead to reopening of the fragile vessels, and therefore lubricated atraumatic packing is recommended.[7] Some patients may wish to learn packing themselves to deal with nosebleeds without having to resort to medical help.[16]

Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen-containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit.[7] A number of additional modalities has been used to prevent recurrent bleeding if simple measures are unsuccessful. Medical therapies include oral tranexamic acid and estrogen; the evidence for these is relatively limited, and estrogen is poorly tolerated by men and possibly carries risks of cancer and heart disease in women past the menopause. Avastatin (an angiogenesis inhibitor) applie topically has been advocated.  Nasal coagulation (with a deeply penetrating Argon laser) and cauterization may reduce the bleeding from telangiectasias, and is recommended before surgery is considered; often, several sessions are needed. It may be possible to embolize vascular lesions through interventional radiology; this requires passing a catheter through a large artery and locating the maxillary artery under X-ray guidance, followed by the injection into the vessel of particles that occlude the blood vessels. The benefit from the procedure tends to be short-lived, and it may be most appropriate in episodes of severe bleeding.  Amicar, Septodermoplasty, medial maxillectomy have even been considered.

If other interventions have failed, several operations have been reported to provide benefit. One is septal dermoplasty or Saunders’ procedure,[17] in which skin is transplanted into the nostrils, and the other is Young’s procedure, in which the nostrils are meticulously sutured shut.

Experimental treatments
Several anti-angiogenesis drugs approved for other conditions, such as cancer, have been investigated in small clinical trials.[19] The anti-VEGF antibody bevacizumab, for instance, has been used off-label in several studies. In the largest study conducted so far, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti-angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.

Epidemiology
The Netherlands Antilles, where HHT is more common than anywhere in the world, located off the coast of Venezuela.
Population studies from numerous areas in the world have shown that HHT occurs at roughly the same rate in almost all populations: somewhere around 1 in 5000. In some areas, it is much more common; for instance, in the French region of Haut Jura the rate is 1:2351 – twice as common as in other populations. This has been attributed to a founder effect, in which a population descending from a small number of ancestors has a high rate of a particular genetic trait because one of these ancestors harbored this trait.[8] In Haut Jura, this has been shown to be the result of a particular ACVRL1 mutation (named c.1112dupG or c.1112_1113insG).[2] The highest rate of HHT is 1:1331, reported in Bonaire and Curaçao, two islands in the Caribbean belonging to the Netherlands Antilles.

Most people with HHT have a normal lifespan.[1] The skin lesions and nosebleeds tend to develop during childhood. AVMs are probably present from birth, but don’t necessarily cause any symptoms. Frequent nosebleeds are the most common symptom and can significantly affect quality of life.[7]

History
Several 19th century English physicians, starting with Henry Gawen Sutton (1836–1891)[23] and followed by Benjamin Guy Babington (1794–1866)[24] and John Wickham Legg (1843–1921),[25] described the most common features of HHT, particularly the recurrent nosebleeds and the hereditary nature of the disease. The French physician Henri Jules Louis Marie Rendu (1844–1902) observed the skin and mucosal lesions, and distinguished the condition from hemophilia.[26] The Canadian-born Sir William Osler (1849–1919), then at Johns Hopkins Hospital and later at Oxford University, made further contributions with a 1901 report in which he described characteristic lesions in the digestive tract.[27] The English physician Frederick Parkes Weber (1863–1962) reported further on the condition in 1907 with a series of cases.[28] The term “hereditary hemorrhagic telangiectasia” was first used by the American physician Frederic M. Hanes (1883–1946) in a 1909 article on the condition.

The diagnosis of HHT remained a clinical one until the genetic defects that cause HHT were identified by a research group at Duke University Medical Center, in 1994 and 1996 respectively.[9][10] In 2000, the international scientific advisory committee of HHT Foundation International published the now widely used Curaçao criteria.[7][15] In 2006, a group of international experts met in Canada and formulated an evidence-based guideline, sponsored by the HHT Foundation International.

HHT

Post on Tracheomalacia

Unknown-5Tracheomalacia (from trachea and the Greek μαλακία, softening) is a condition characterized by flaccidity of the tracheal support cartilage which leads to tracheal collapse especially when increased airflow is demanded.

Unknown-6The trachea normally dilates slightly during inspiration and narrows slightly during expiration. These processes are exaggerated in tracheomalacia, leading to airway collapse on expiration. The usual symptom of tracheomalacia is expiratory stridor or laryngeal crow.  Sometimes called “Dying Spells”.  These are markedly worse with upper respiratory infections and there is a high incidence of pneunonia in these patients.

Tracheomalacia

Post on Laryngomalacia

unknown_mediumLaryngomalacia is the most frequent cause of stridor or noisy breathing in infants. It occurs as a result of a floppy portion of the larynx (voice box) that has not yet developed the strength to provide rigid support of the airway. During inspiration, negative pressure is created through the larynx, which results in a collapse of these structures into the airway and a narrower breathing passage. The partial obstruction is the source of the noise with breathing.

The hallmark sign includes a high pitched or squeaky intermittent sound noted mostly on inspiration. It is usually more prominent when the infant is lying on his/her back, crying, feeding, excited or has a cold. This is usually first noticed in the first few weeks of life. It may worsen over the first few months and become louder. This is because as the baby grows, the inspiratory force is greater, which causes greater collapse of the laryngeal structures into the airway. This is usually at it’s worst at 3-6 months and then gradually improves as the rigidity of the cartilage improves. Most children are symptom free by 12 months.

It is usually a self-limited condition, but it can be associated with gastroesophageal reflux, neuromotor disease, and obstructive apnea.  Infants with severe laryngomalacia may require supraglottic surgery to prevent the consequences of neonatal upper airway obstruction.

Laryngomalacia

Post on Croup

UnknownCroup (or laryngotracheobronchitis) is a respiratory condition that is usually triggered by an acute viral infection of the upper airway. The infection leads to swelling inside the throat, which interferes with normal breathing and produces the classical symptoms of a “barking” cough, stridor, and hoarseness. It may produce mild, moderate, or severe symptoms, which often worsen at night. It is often treated with a single dose of oral steroids; occasionally inhaled epinephrine is used in more severe cases. Hospitalization is rarely required.  “Steeple Sign” is the term used to describe the appearance of the conus elasticus in the subglottis in plain films.

Moisturizing the Nose

The nose is there to warm, filter, and humidify the air for the lungs. Dry nose is usually caused by dry weather, allergies, decongestant medications or antihistamine medications.  Discomfort and nosebleeds are the most distressing results of this malady.
Step 1
Discontinue the use of over-the-counter antihistamines and decongestants unless otherwise directed by your doctor.
Step 2
Increase your fluid intake to hydrate your body so that it can produce mucous. Drink at least six 8 ounce glasses a day of water, juice or tea.
Step 3
neilmed_mediumUse a nasal saline spray as needed to moisturize the nasal passages. Saline nasal sprays are available for purchase over-the-counter at most drug stores. Make sure to purchase a spray that is 100 percent saline. Because the spray contains only saline (salt water) it can be used as often as needed to hydrate the nose.  You cannot overdose on saline.  There are also gel configurations of saline.
Step 4
Place a humidifier or a vaporizer in your home and office to add moisture to the air you breathe. Regularly clean the humidifier or vaporizer to keep mold or bacteria growth inside the machine at bay.
Step 5
Apply a small amount of moisturizing cream at the opening inside your nose. Rub the moisturizer into the skin to prevent inhalation of the product. Stay away from petroleum-based moisturizers, which could cause lipoid pneumonia if accidentally inhaled into the lungs. Instead use a water-based moisturizer or 100 percent pure aloe vera gel.  I prefer Bactroban water soluble ointment.
Step 6
ProdPonarConsider a nasal emollient such as Ponaris.  It can be purchased on Amazon.com

Tips
Talk to your doctor if you suspect one of your medications may be causing dry nasal passages. An example of medications that can cause nasal dryness are some anti-anxiety medications, diuretic blood pressure medications, pain relievers, eye drops and heart medications. Do not stop taking a prescription medication without first consulting with your doctor.

The Dry Nose

Post on Thornwaldt’s Cyst

89e365f443439166f8c9210754abc6_big_galleryA Thornwaldt cyst (also spelled as a Tornwaldt cyst or Thornwald cyst) is a common incidental benign midline nasopharyngeal mucosal cyst.

Thornwaldt’s cysts are classified as crusting and cystic 8. They form as a result of retraction of the notochord where it contacts with the endoderm of the primitive pharynx.
This is believed to happen at about the 10th week of embryonic development. Closure at the orifice results in so called cystic type, while crusts adhering to the orifice without closing result in crust type 8. The cyst is lined by respiratory epithelium and accumulates with fluid with variable proteinaceous content, inflammation can occur due to obstruction.It is named after Gustav Ludwig Thornwaldt, German physician, 1843-1910

Thornwaldt’s Cyst

Post on Choanal Atresia

choanal_atresia2_mediumChoanal Atresia is a rare malformation of the posterior nasal cavity. It results from persistence of the bucconasal membrane of Hochstetter and affects about 1 in 6,000 live births. This can be a frustrating and frightening encounter as infants are obligate nasal breathers. Females are affected twice as often as males and unilateral is twice as common as bilateral. When the atresia is unilateral, the right side is affected twice as often as the left. 90% of atresias are boney whereas 10% are membranous, about half of the atresia cases are associated with other congenital anomalies such as the CHARGE syndrome.

Choanal Atresia

Post on Nasolacrimal Duct Cyst

180px-Dacryocystocele_nose_view002The etiology of congenital nasolacrimal duct obstruction is most commonly a membranous obstruction at the valve of Hasner at the distal end of the nasolacrimal duct. General stenosis of the duct is the second most common cause of duct obstruction. Congenital proximal lacrimal outflow dysgenesis involves maldevelopment of the punctum and canaliculus. Proximal outflow dysgenesis can occur concurrently with distal obstruction. Congenital lacrimal sac mucocele or dacryocystocele occurs when there is a membranous cyst extending from the distal end of the duct into the nose. The nasolacrimal duct sac is filled at birth with clear amniotic fluid.

0392-100X.28.298.fig1Congenital nasolacrimal duct obstruction occurs in approximately 5% of normal newborn infants. The blockage occurs most commonly at the valve of Hasner at the distal end of the duct. There is no sex predilection and no genetic predisposition. The blockage can be unilateral or bilateral.  The rate of spontaneous resolution is estimated to be 90% within the first year of life. Thus timing intervention with resolution makes this a “winner’s game”.

Nasolacrimal Duct Cyst

Post on Pyriform Apeture Stenosis

inline_192_pyriform_aperture_stenosis_mediumPyriform aperture stenosis (PAS) is a very rare congenital anomaly where the anterior opening of the nose is narrow secondary to overgrowth of the maxillary bone. PAS is sometimes associated with other abnormalities, including the presence of a single central incisor tooth and pituitary abnormalities.
What are the causes of pyriform aperture stenosis?
Pyriform aperture stenosis is present at birth and can be associated with other abnormalities. There is no known specific cause.

Pyriform Aperture Stenosis