A short overview of Haemochromatosis, iron overload disorder.
- 1.we all have to die ofsomething, but it shouldnt be haemochromatosis1
2. Haemochromatosis What is this Haemo you may ask?IRON OVERLOAD This can be toxic to our body organs.2 3. fault in an iron control gene inherited from both parents runs in families too much iron absorbed from food iron overload can cause organ damage and eventually death early diagnosis and simpletreatment prevents complications normal health and life expectancyis possible3 4. men and women are equally at riskgenetic Caucasian people are at risk 1 in 200 have the fault fault it runs in families so family members at riskexcess frequent and heavy alcohol drinkers iron taking iron supplements eating large amounts of iron-rich foods taking high doses of vitamin Cironoverload men & post-menopausal women at greatest risk (people who donate blood are at lower risk) organ untreated haemochromatosisdamage frequent and heavy alcohol drinkers4 5. relatives of people with haemochromatosis are at risk relatives need to be tested brothers and sisters mother and father children over 18 years grandparents aunts, uncles nieces, nephews half-siblingsunrelated people children brothers & sisters1 in 200 risk 1 in 20 risk1 in 4 riskcousins are more distant so routine testing isnt strongly recommended 5 6. simple blood tests, arranged by a doctor, can detect iron overload the genetic faults simple treatment removes excess iron giving blood, just like a blood donation at a blood bank this is called venesection 500mL blood = 1 venesection = 0.25 grams iron simple advice on diet helps to prevent extra iron absorption haemochromatosis cant be treated by diet alone 6 7. harder to diagnose early.. fatigue, weakness,lethargy, apathy, weight loss, joint aches abdominal pains..7 8. classical description was bronze diabetes easier to diagnose late.. the iron salute 1st & 2nd finger knuckle arthritisliver failure and pigmented skin 8 9. LIVERliver damage, cirrhosis, liver failure, liver cancer, sometimes requiring liver transplant symptoms of fatigue, liver pain, enlarged liver, weakness, weight loss, abnormal blood tests for liver function, jaundice (yellowness of skin and whites of eyes)HEARTarrhythmias, cardiomyopathy, heart failure symptoms of fatigue, palpitations, shortness of breath, breathlessness with exertion, ankle swellingPANCREAS iron in the pancreas can cause diabetes symptoms of high blood sugar include fatigue, thirst, hunger, increase in urinary frequency, slow-to-heal skin infections, dizziness 9 10. JOINTS most commonly affected joints are the hands, wrists, shoulders, hips, knees and ankles arthritis can lead to joint replacement surgery at a young age a classic finding is of swelling in the 1st and 2nd finger knuckles and the iron saluteSKIN iron overload may cause slate grey or bronze discolouration of the skin, loss of body hairSEXmen: low testosterone, impotence (erection problems), loss ofORGANS libido, shrinking testicles (which doctors call testicular atrophy), development of man boobs (which doctors call gynaecomastia) women: irregular or no periods, early menopause, loss of libido10 11. gene test tells youiron studies tell about your futureyou about yourrisk of ironcurrent iron overload and ifoverloadyour family needs to be tested11 12. venesection / phlebotomy treatment removes excess iron Like a blood donation 1. iron unloading phase frequent venesections 2. life-long maintenance phase monitoring iron levels at least every 12 months, usually every 3-6 months enough venesections every year to keep SF at a safe level (highly individual) 12 13. we all have to die ofsomething, but it shouldnt be haemochromatosis13 14. 14