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Acromegaly is a hormonal disorder that develops when the pituitary gland produces too much growth hormone (GH). The overproduction of GH is most commonly caused by a benign (or noncancerous) tumor on the pituitary gland, a pea-sized gland located in the brain. The excess GH leads to the overgrowth of bone and cartilage, creating gradual physical changes in appearance, especially noticeable in the hands, feet and face. The disorder usually presents in middle-aged adults. It is a rare but serious condition that can affect energy levels, muscle strength, joint and bone health and overall well-being. Early diagnosis and treatment for acromegaly is important because it can lead to serious complications if not treated. Signs and Symptoms of Acromegaly One of the most common signs is an increase in shoe and ring size caused by the enlargement of the hands and feet. Facial features change over time (e.g., thick lips, coarse facial features, jutting forehead and jaw, widely spaced front teeth). Other than the more obvious physical changes, it’s important to know that there are other serious signs and symptoms of the disease—these may include: - Numbness or burning of the hands or feet - Carpal tunnel (chronic nerve pain of the wrist) - Sleep apnea due to obstruction of airway (caused by swelling of the soft tissues in this area) - Excessive sweating and skin odor - Fatigue and weakness - Headaches - Impaired vision - Erectile dysfunction in men - Abnormal menstrual cycle and breast discharge in women - Decreased libido - Achy joints or arthritis due to overgrowth of bone and cartilage - Thick, coarse, oily skin - Skin tags - Deepening of the voice Without treatment, the symptoms usually worsen and may cause other serious conditions including high blood pressure, diabetes, and heart disease. If you experience signs or symptoms of acromegaly, or if you are being treated for acromegaly and your symptoms do not improve, speak with your doctor. Diagnosing and Treating Acromegaly Physical changes can occur slowly and may go unnoticed. And so some people can experience acromegaly symptoms for years before getting a diagnosis. Diagnosis involves blood tests and X-ray scans to measure the levels of growth hormone, track bone growth and find tumors. These tests may include: - Serial photos, taken over the years to see physical changes - X-rays, to see bone thickening and changes in the joints - Blood tests, to check the growth hormone level - Head MRI or CT scan, to find the pituitary tumor In the majority of cases, acromegaly is caused by a tumor in the pituitary gland that secretes either GH alone or GH with other hormones. Treatment usually involves surgery to remove the existing pituitary tumor. Depending on the size and location of the tumor, a surgical cure may be possible. Unfortunately, not all tumors can be taken out completely. There is also a chance that the tumor can return. Medications can also be used to block the secretion of GH, or to reduce and/or counter the effects of GH. Radiation therapy is sometimes used as well. With these treatments, hormonal disease control is often achieved. However, even if people with acromegaly are surgically cured or their symptoms are well-controlled, joint pain, deformities and altered quality of life may remain. Also, keep in mind that a treatment regimen that might be effective for one person with acromegaly may not be effective for all people with acromegaly. Treatment is individualized so it’s important to work closely with your healthcare team. Living with Acromegaly Life when you have a chronic disease can be challenging, not just physically but also mentally and emotionally. Here are a few things to keep in mind: - You are not alone. Though acromegaly is a rare disease, it is estimated that about 60 out of every million people worldwide are living with the condition. - Educate yourself and others around you. Becoming more knowledgeable about the disease may help you feel more empowered in the management of your condition and addressing misconceptions or stigma about the disease. - Talk about it. If you have acromegaly, it’s important to communicate your feelings about it. Managing any chronic disease can be stressful. Also, remember that people who live with chronic illnesses are more prone to depression. Be sure to speak to your doctor if you struggle with feelings of depression. - Join a support group. It may help to connect with other people with acromegaly. Acromegalycommunity.com is one such resource offering support groups for those living with the disease. - Keep up with your doctor appointments. Acromegaly is a lifelong condition and requires ongoing care. Speak to your healthcare team (e.g., doctor, pharmacist, nurse) about any changes in your condition or the medications you take. Share any concerns or questions you may have—you are not complaining. Your healthcare team is there to help you. References National Institutes of Diabetes and Digestive and Kidney Diseases. Acromegaly. Accessed June 9, 2016. Hormone Health Network. Acromegaly. Accessed June 9, 2016. Johns Hopkins Medicine Health Library. Acromegaly. Accessed June 9, 2016 MedlinePlus. Acromegaly. Accessed June 9, 2016. UCLA Pituitary Tumor Program. Acromegaly. Accessed June 9, 2016. Orphanet. Acromegaly. Accessed June 9, 2016. eMedicineHealth. Acromegaly (cont.). Accessed June 9, 2016.
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Akromegalija – uzroci i liječenje - Budite prvi i komentirajte! - 3 min čitanja Akromegalija je hormonalni poremećaj kod kojeg hipofiza, mala žlijezda u mozgu, proizvodi pretjerane količine hormona rasta. Višak obično dolazi iz benignih ili nekanceroznih tumora na hipofizi. Ovi benigni tumori nazivaju se adenomi. Akromegalija se najčešće dijagnosticira u sredovječnoj dobi, iako se simptomi mogu javiti u bilo kojoj dobi. Ako se ne liječi, akromegalija može dovesti do ozbiljnih bolesti i prerane smrti. Akromegalija je izlječiva kod većine bolesnika, ali zbog sporog i često nepredviđenog napada obično se ne dijagnosticira ispravno i na vrijeme. Najveće ozbiljne zdravstvene posljedice akromegalije su: - Dijabetes tipa 2 - Visoki krvni tlak - Povećan rizik od kardiovaskularnih bolesti - Artritis - Povećan rizik od nastanka polipa debelog crijeva, koji se mogu razviti u rak debelog crijeva, ako se ne uklone na vrijeme. Kada se tumori, koji potiču povećanu proizvodnju hormona rasta javljaju u djetinjstvu, bolest koja se javlja naziva se gigantizam, umjesto akromegalija. Dječja visina određuje se prema dužini tzv. dugih kostiju u nogama. Kao odgovor na pretjeranu proizvodnju hormona rasta, ove kosti rastu u dužinu. Ovaj rast ne događa se kod odraslih, međutim, kod djece će uzrokovati povećanje visine. Uzroci akromegalije Akromegalija je uzrokovana dugotrajnom hiperprodukcijom hormona rasta od strane hipofize. Hipofiza proizvodi nekoliko važnih hormona koji kontroliraju tjelesne funkcije, kao što su rast i razvoj, reprodukciju i metabolizam. Međutim, hormoni nekad ne djeluju jednostavno ili izravno, već utječu na međusobnu proizvodnju ili puštanje u krvotok. Hormon rasta je dio hormona koji, kako i ime implicira, reguliraju rast tijela. Proizvodnja ovog hormona započinje u dijelu mozga zvanom hipotalamus. Hipotalamus proizvodi hormone koje regulira hipofiza. Jedan od hormona u GH seriji je GHRH, koji stimulira hipofizu na proizvodnju hormona rasta. Izlučivanje hormona rasta od strane hipofize u krvotok stimulira jetru da proizvodi drugi hormon IGF-1 (inzulin faktora rasta), koji zapravo uzrokuje rast tkiva u tijelu. Visoka razina IGF-1 je signal hipofizi da smanji proizvodnju hormona rasta. Hipotalamus čini još jedan hormon, somatostatin, koji inhibira proizvodnju i puštanje hormona rasta. Uobičajeno, svi ovi hormoni u tijelu regulirani su jedni drugima, kao i količinom sna, vježbanja, stresa, unosa hrane i razinom šećera u krvi. Ako hipofiza nastavlja proizvodnju hormona rasta neovisno od normalnih regulatornih mehanizama, razina IGF-1 će rasti, što dovodi do rasta kostiju i širenja organa. Visoka razina IGF-1 također može uzrokovati i promjene u metabolizmu glukoze (šećera) i lipida (masti) te može dovesti do dijabetesa, visokog krvnog tlaka i bolesti srca. Tumori hipofize U više od 95% slučajeva, akromegaliju uzrokuju benigni tumori hipofize, koji se nazivaju adenomi. Tumori hipofize nazivaju se mikro ili makro adenomi, ovisno o njihovoj veličini. Većina tumora koji uzrokuju hiperprodukciju hormona rasta su makro adenomi, što znači da su veći od jednog centimetra. Ovisno o njihovoj lokaciji, ti tumori mogu biti stisnuti oko moždane strukture. Primjerice, tumor koji raste prema gore može uzrokovati gubitak vida, a ako raste u stranu, može ući u područje kavernoznog sinusa, gdje postoji mnogo živaca koje bi potencijalno tumor mogao oštetiti. Kompresija okolnog normalnog tkiva hipofize može mijenjati proizvodnju drugih hormona. Ove hormonalne promjene mogu dovesti do promjena u menstruaciji, iscjetka iz dojke kod žena i erektilne disfunkcije kod muškaraca. Ako tumor utječe na dio hipofize koji kontrolira štitnjača, može se smanjiti količina hormona štitnjače, što može uzrokovati debljanje, umor te promjene na kosi i koži. Ako tumor utječe na dio hipofize koji kontrolira nadbubrežna žlijezda, može se smanjiti količina hormona kortizola, što može uzrokovati gubitak težine, vrtoglavicu, umor, nizak krvni tlak i mučninu. Neki tumori mogu utjecati na pretjerano lučenje drugih hormona hipofize. Primjerice, oni mogu proizvesti prolaktin, hormon koji stimulira mliječne žlijezde na proizvodnju mlijeka. Rijetko, adenomi mogu proizvesti hormon koji stimulira rad štitnjače. Liječnici bi trebali procijeniti sve hormone hipofize kod osoba s akromegalijom. Stopa proizvodnje hormona rasta i agresivnost tumora uvelike se razlikuje kod osoba s adenomima. Neki adenomi rastu sporo i simptomi su često neprimjetni dugi niz godina. Ostali adenomi rastu brže i zahvaćaju okolna područja mozga ili venskih sinusa, koji se nalaze u blizini hipofize. Mlađi pacijenti imaju tendenciju agresivnijih tumora. Bez obzira na veličinu, ovi tumori su uvijek dobroćudni. Većina tumora hipofize razvija se spontano i nema genetsku predispoziciju. Oni su rezultat genetskih promjena u jednoj ćeliji hipofize, što dovodi do povećane diobe stanica i formiranja tumora. Ova genetska promjena, ili mutacija, nije prisutna pri rođenju, ali se događa kasnije u životu. Mutacija se događa u genu koji regulira prijenos kemijskih signala unutar stanica hipofize. Ona potiče podjelu ćelija i lučenje GH. Ostali tumori Rijetko, akromegaliju ne uzrokuju tumori hipofize, već tumori gušterače, pluća i ostalih dijelova mozga. Ovi tumori također mogu dovesti do viška GH, bilo zato što oni proizvode GH ili, češće, jer proizvode GHRH, hormon koji stimulira hipofizu da proizvodi GH (hormon rasta). Kada se ovi tumori kirurški uklone, razina GH opada i simptomi akromegalije se povlači. Kod ovih bolesnika, hipofiza još uvijek može biti povećana, što se može zamijeniti za tumor.