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  • 2 days ago
In Good Shape - Blood Work
Transcript
00:00can't stand the sight of blood does it make you break out in a sweat or even faint you
00:14might have haemophobia a fear of blood sometimes just looking away can help doctors of course
00:21don't have that option looking at your blood can tell them a lot about your health in nicholas's
00:27case they discovered a dangerous condition usually only seen in older people it was almost too late
00:34why does something have to happen before anyone checks
00:38well we're checking now on in good shape
00:57for 31 years nicholas bota believed he was in perfect health fit active and busy with his work
01:04as a master roofer he'd never had any health issues he had no reason to think anything was wrong but
01:13one morning in the office two years ago something strange happened
01:17while i was speaking it was just garbled words coming out i couldn't get the words out properly
01:31and that's when i knew something was seriously wrong
01:34it didn't last long but what was it nicholas called his wife joanna she's a nurse and usually
01:46knows what to do i was alarmed and asked him to tell me more then he said he had a stabbing pain
01:53in his head that's when i told him to call emergency services right away
02:00paramedics rushed him to the hospital his symptoms trouble speaking and a severe headache were textbook
02:06signs of a neurological issue the doctors ran a series of tests in the end they concluded that
02:13a blood clot had temporarily blocked a blood vessel in his brain in other words nicholas had suffered a
02:20minor stroke
02:25it was definitely a shock you need time to process something like that
02:35but what caused the stroke at the time nicholas was a smoker and under a lot of stress both of
02:41which can damage the blood vessels over time but doctors suspected something more his ldl cholesterol
02:48was dangerously high ldl cholesterol is often called the bad cholesterol too much of it causes fatty deposits
02:58plaques to build up in the vessel walls that leads to arteriosclerosis
03:05if blood clots form in these narrowed areas they can block blood vessels anywhere in the body triggering
03:11a heart attack or stroke that really made me stop and think it was like a yellow card thankfully not
03:20a red one i took it seriously and made changes nicholas turned his life around he quit smoking
03:29reduced his workload started eating healthier and began exercising regularly
03:34he now has regular checkups with a vascular specialist to keep an eye on things
03:42at his first appointment cardiologist julius traba was immediately concerned
03:50we examined the vessel supplying the brain and saw that something was already happening
03:57processes you wouldn't expect in someone so young
04:00nicholas's blood vessels already showed signs of damage his cholesterol levels were far too high for
04:10someone his age and they had to come down
04:17we suspected that he had a genetic predisposition that affected his lipid metabolism
04:24the diagnosis was familial hypercholesterolemia
04:27it made sense both of nicholas's parents also have high cholesterol he was prescribed statins to lower his levels
04:40i thought okay i'll watch my diet take the statins and we'll get it under control
04:45but unfortunately that's not how it went
04:49nicholas tried several statins but none of them helped instead he felt constantly tired and in pain
04:58he made an appointment with joanna fata a lipid specialist a doctor who treats cholesterol issues
05:06she immediately saw that more testing was needed
05:12he's a young man with suspected stroke who already tried several medications without success
05:20patients like him often turn out to have a genetic issue
05:24an additional genetic cardiovascular risk factor that isn't picked up on standard tests
05:34she prescribed a new medication a pcs k9 inhibitor
05:40they're prescribed for familial hypercholesterolemia
05:44or high ldl levels that don't respond to other treatments
05:48her suspicion was confirmed along with genetically high ldl levels nicholas also has elevated levels
06:05of lipoprotein a often called lp little a
06:09that means his blood vessels are more prone to arteriosclerosis and at a younger age
06:17lp little a is similar to ldl cholesterol but far more dangerous
06:23it carries a lot of different substances that increase inflammation and cause plaques to build up in
06:29blood vessels
06:31it also makes it easier for blood clots to form
06:34and makes it harder for the body to dissolve them
06:38and that dramatically increases the risk of heart attack or stroke
06:45about one in five people has elevated lp little a but most don't know it
06:51nicholas and joanna had their children tested and they're affected too
06:56there's currently no medication to treat it
06:58and since it's caused by genetics not lifestyle diet doesn't help either
07:04still the family is doing everything they can to stay healthy and take good care of themselves
07:13time is precious to us it's our top priority
07:17to spend time together and make the most of it
07:20it's not possible to listen since his wake-up call nicholas buta has made health a priority
07:27a simple blood test revealed the risk for him and his sons
07:31now regular check-ups will hopefully give them peace of mind and a healthy future
07:39does your family have a history of strokes or heart attacks then you should definitely get your
07:44cholesterol levels checked and if you're healthy giving blood is a good idea
07:52donor blood can save lives especially during surgery and after accidents
08:02this is what a finished blood donation looks like but its journey starts here
08:07leona boozehans is donating blood for the first time today first her vein is checked a quick swipe of
08:13disinfectant then comes a tiny prick of the needle
08:19not bad at all everything went smoothly i feel fine and it didn't hurt so it was no big deal
08:28the blood flows first into a small pouch then into a larger bag the bag is rocked gently to prevent
08:35clotting from the small pouch alexi takes samples for testing each test tube is marked with a barcode
08:42for identification after about five minutes the bag is full leona's done time for a well-deserved snack
08:53we don't have enough blood donors for the university hospital and the cities around aachen
08:58we need about 100 to 150 donors every day right now we're only getting 60 to 70 which is clearly not
09:06enough three times a day the red cross delivers the donations to the hospital both the large bags and
09:14the test tubes in the lab they're tested for infections like hiv syphilis and hepatitis any positive
09:22samples are discarded they also test for blood type
09:25the large blood bags are also processed first the blood is filtered then it's placed in a centrifuge
09:3720 minutes later it looks like this plasma at the top red blood cells at the bottom
09:43the plasma is pressed out from the top of the bag it's especially helpful for patients whose wounds don't
09:49heal properly the red blood cells carry oxygen and are often used during surgeries the plasma is flash
09:57frozen at minus 80 degrees celsius then stored at minus 40 degrees that keeps it usable for up to two
10:04years for now there's no alternative to blood donation this isn't in the coming years we expect to be able to
10:14produce artificial blood synthetic blood products we can use but that's still a way off until then we'll
10:24have to rely on voluntary donors like leona your blood can reveal a lot about your health like whether you
10:35have diabetes whether your kidneys liver and thyroid are working properly or whether a hidden infection is
10:44lurking in your body a blood test is a good idea if you're dealing with unexplained fatigue
10:51or even just bruising unusually easily after a minor bump
10:59philip geiger is 30 years old and in great shape he writes for an outdoor magazine testing hiking routes
11:06all year round but a few weeks ago he took a fall while playing basketball
11:14i went for the ball and landed hard on my knee and the right side of my body i had big bruises really
11:20black and blue on my calf ribs and elbow
11:27hematomas can form wherever blood vessels under the skin are damaged causing blood to leak into the
11:33surrounding tissue a bump or minor fall can be enough and some people bruise more easily than others
11:44women tend to bruise more easily that's because their connective tissue is thinner and more elastic
11:50than in men making the tiny blood vessels under the skin more prone to injury older people are especially
11:58vulnerable to bruising says hematologist hans georg kopp
12:07we sometimes use the term aging skin or parchment skin for skin that bruises easily
12:12people on long-term cortisone therapy often have these issues
12:17and there's a large group especially among older adults who take medications that reduce the blood's
12:22ability to clot right after an injury a hematoma looks red because fresh oxygen-rich blood is leaking
12:33into the tissue within hours it turns dark blue or purple as circulation is disrupted and red blood
12:42cells stop receiving oxygen the body starts to reabsorb the blood after a few days the bruise turns green
12:50as hemoglobin breaks down into biliverdin a green bile pigment then it fades to yellow brown pale yellow and eventually disappears
13:01philip was worried about how severe his bruising had become
13:05his doctor did a blood test it showed that his thrombocyte or platelet count which is crucial for clotting and
13:11healing had dropped below 10 000. that's dangerously low he was sent to a specialist
13:18a thrombocyte or platelet count that's this low is obviously a risk
13:26an injury could cause serious bleeding but there's also the danger of spontaneous life-threatening
13:32bleeding for example in the brain or there might be bleeding in the gastrointestinal tract
13:38the lab tests confirmed that philip has a rare autoimmune disorder called immune thrombocytopenia
13:48or itp what happens is that for reasons we don't fully understand the body suddenly starts to attack
13:58its own platelets it sees them as a foreign body and tries to reduce their number and ideally eliminate
14:05them entirely that's why the platelet count drops so dramatically as it did here
14:18one trigger for itp is a viral infection philip is now being treated with cortisone and a medication
14:24that stimulates platelet production the goal is to produce more platelets than the immune system can
14:30destroy his platelet count has already started to rise slightly itp is a rare condition and usually
14:39bruising isn't a sign of anything serious but there are warning signs to watch out for
14:46if you've never had a lot of bruises and suddenly you're covered in them that's a red flag
14:51especially if you have other symptoms like fatigue flu-like symptoms fever or just feel unwell
14:58or if you find bruises in places where you know you didn't bump into anything
15:06philip geiger hopes his platelet count will continue to rise until then he has to keep
15:11taking his medication and go for regular checkups once his platelet count reaches at least 50 000
15:18he'll be able to play basketball again do you sometimes get nosebleeds most of the time they happen for a
15:26harmless reason like dry nasal membranes from heating for example or blowing your nose too hard or maybe
15:34you're low on vitamin c k or iron but frequent prolonged nosebleeds could point to a clotting disorder
15:43people with this condition are called haemophiliacs their blood barely clots or doesn't clot at all
15:49felix used to dream of jumping around and having fun like this just a few years ago even an afternoon
16:00at a trampoline park felt out of reach felix has hemophilia also known as the bleeding disorder
16:08when he jumps and twists his foot i still feel a flash of worry will there be a bruise a hematoma
16:19will it affect a joint but it's a momentary thought these days i can let it go and say no he's fine
16:29watching felix bounce around you'd never guess he was diagnosed with severe hemophilia as a baby
16:36today he feels just like any other kid i don't feel like anything is off limits anymore i can do sports
16:45like everyone else and nothing hurts but it wasn't always like this we first met the family in 2016
16:59after felix had been diagnosed with hemophilia a as a baby he developed unusually large bruises
17:05his body lacked a protein essential for blood clotting of course we were devastated it's an incurable
17:12disease we didn't know what to expect how would his tiny veins cope it was really tough
17:18back then everything revolved around hemophilia morning noon and night felix had spontaneous
17:30bleeds while he slept and we were constantly rushing to the hospital and when he was one or two years
17:36old and became more active the falls and bumps added to the worry even small bumps can cause bleeding in
17:46the joints repeated bleeds can cause lasting damage bleeding in the brain or abdomen can be life
17:54threatening felix received the missing clotting factor by injection back then every single day
17:59he was in so much pain just seeing the syringe made him feel sick he'd scream and cry as a mother it
18:13was very very hard to have to cause him that pain felix is now receiving a new kind of therapy a quick
18:22injection under the skin every two weeks helps prevent bleeding his hemophilia is now under control
18:31felix can play and do sports like any other 12 year old ride his bike play football even jump on a
18:37trampoline i jumped a lot did a few flips played basketball it was really fun
18:46it makes me so happy watching him jump around is beautiful it's amazing what's possible now felix's
18:56future is going to keep getting better and brighter the worry will never fully disappear but the family
19:04doesn't let it overshadow their joy in life
19:06a scrape while playing outside a small cut in the kitchen for healthy blood it's no problem the blood
19:18clots and the wound heals all you have to do is clean it maybe add a band-aid and that's it
19:26but with a clotting disorder the bleeding doesn't stop and that's dangerous people with a clotting
19:32disorder have to be extra careful as we saw medication can reduce the risk though it's not a cure
19:40but a cure could be on the horizon thanks to gene therapy
19:52udo henning is just one of three people in germany to receive gene therapy for hemophilia
19:58worldwide only 134 patients have undergone the treatment udo grew up with the condition he was
20:07still very young when his parents noticed he was constantly bruising when you're a kid and start
20:14walking you fall a lot my knees and elbows really took a beating i wore pads to protect them which helped
20:21a bit but then my ankles started acting up udo spent a lot of time in the hospital in treatment
20:34my earliest memories are from hospital stays when i was three or four 10 a.m on monday wednesday and
20:40friday was injection time the risks remained as he got older even a quiet hobby like fishing comes with dangers
20:51and then it's every little scratch just kept bleeding it wouldn't stop what seemed like a minor bump would
20:59turn into a big painful hematoma the next day when we're injured special proteins in the blood called
21:09clotting factors spring into action they help produce thrombin an enzyme that triggers the formation of a kind of
21:17biological glue this glue binds the platelets together sealing the wound and stopping the bleeding
21:27our bodies have 13 clotting factors if even one is missing the entire process breaks down
21:37when factor eight is missing the process slows down dramatically
21:41too little thrombin is produced and the patient keeps bleeding
21:47the missing factor has to be replaced for life that's the standard treatment for hemophilia
21:59gene therapy aims to make lifelong injections unnecessary
22:04two medications are now available for different forms of the condition
22:08the hope with gene therapy and study support this is that some patients can become completely bleed free
22:21gene therapy uses a harmless virus to deliver a working copy of the missing gene and deliver cells
22:30these cells then have the instructions they need to produce the clotting protein as needed
22:38udo received gene therapy five years ago and some major benefits especially in the beginning
22:47it was amazing i felt normal what i'd wished for as a kid no injections no worries finally came true
22:58another big plus udo is now protected from spontaneous joint bleeds
23:02these can cause lasting damage so preventing them is a key goal in treatment
23:12our previous treatments didn't always prevent joint damage
23:15many patients still develop problems by age 30 40 or 50
23:20gene therapy gives us a chance to raise factor eight levels long term
23:24and stop joint disease from progressing
23:26but for udo the effect has faded over time gene therapy doesn't work the same for everyone
23:36some benefit for years others only briefly
23:44researchers believe the therapeutic genes may be lost when liver cells divide
23:49despite this doctors still see gene therapy as a major breakthrough
24:00one major benefit is that patients could go for a while maybe even a long time without needing
24:06constant treatment that kind of freedom can make a huge difference
24:10they need to come into that by to have
24:15still there's a catch the patients need regular monitoring
24:21the immune system can attack the inserted genes which happens fairly often
24:30the biggest risks come early on if liver values rise and clotting factor levels drop patients may need
24:36corticosteroids or other immune suppressing drugs which can have side effects
24:44another issue is that if clotting factor levels drop the gene therapy can't be repeated
24:51the immune system would recognize and destroy the viral carrier
24:57udo's liver now only produces small amounts of the clotting factor
25:01a second round isn't an option he still remembers the tough early days on corticosteroids
25:08but even so he has no regrets
25:13now i'm back to regular treatment once or twice a week or more if i'm doing sports or something strenuous
25:20you might think it's just like before but i still have a baseline of about three percent clotting activity
25:33and that means i hardly ever get spontaneous bleeds anymore
25:41gene therapy has eased udo henning's hemophilia and helped protect his joints
25:47despite the challenges he now has real hope for a healthier future
25:54so was this show super gory nah it was fine right all's well that ends well see you next time on in good shape
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