Scleroderma: Morphea vs. Systemic Diagnosis

Steven Gray2 said:My bad, I wanted to lay everything out on the table. I know there’s a specialist over on the lupus thread who breaks down lab results, so I figured I’d list everything I’ve done here so maybe someone can offer some advice without me clogging up that other section. I get it—this whole thing reads like a novel. Honestly, I’m terrified because when you're dealing with the systemic version of this disease, it’s pretty brutal. Even today, I went to see a department head privately just to get a second opinion, but since my blood work looks perfect, she refuses to give me a diagnosis. She’s acting like it can’t possibly be an autoimmune issue just because my numbers are clean. My CRP is 0.2, ESR is 2, RF is low and hasn't budged from the last test, and my CBC has been steady for years—everything is totally normal. My ANA came back negative at the Chicago University Hospital Center, and they don't run ENA tests there if the ANA is negative, which makes sense from a cost-cutting standpoint. I decided to pay for the extra ENA parameters myself at Medikol, and they were all negative, including Scl-70. Still, I know there are rare cases where the ANA is negative but an ENA comes back positive. It's rare, but it happens. In my line of work with animals, I've seen lupus and Cushing's, but experiencing it in a human is a whole different ballgame. This disease manifests in so many weird ways; if your blood work is normal or you don't have the classic symptoms of advanced stages, people tend to miss it, even when you're actually feeling the symptoms.

Sir,

I've read through your entire post, but I'm struggling to understand what specifically leads you to suspect systemic sclerosis or Cushing? What exact symptoms are you experiencing? Given the lab results you provided, a diagnosis of systemic sclerosis would be highly unusual.

Nicholas Myers said:Sir,

I've read through your entire post, but I'm struggling to understand what specifically leads you to suspect systemic sclerosis or Cushing? What exact symptoms are you experiencing? Given the lab results you provided, a diagnosis of systemic sclerosis would be highly unusual.

I have prominent telangiectasia symmetrically across my abdomen just below the ribs—small, long lines rather than dots—plus some on my bridge and inside my nose, and in my mouth on the soft palate and throat near the lymphatic tissue. My latest scans show slight degenerative changes in both knees (maybe from 17 years of running with bad form, maybe illness, who knows). My mouth isn't dry, except when I first wake up because I breathe through my mouth due to a deviated septum. My eyes aren't dry either; I see some capillaries, but there's no irritation, pain, or itching. My nails have pronounced vertical lines and some pitting. Cuticles look fine. Capillaroscopy wasn't performed. Then there’s this subjective feeling that I've lost significant subcutaneous fat in my lower legs and some muscle mass in my arms and legs. It feels like my tendons have lost flexibility. I mentioned one wrist moves out of alignment—it doesn't pop, but it drifts during pronation and supination. I also have stretch marks on my thighs and hips, which could be from my weight swinging from 207 lbs down to 138, then back up to 180, or it could be a collagen issue. Add in genetic connective tissue disorders like Marfan and Ehlers-Danlos... and then there are the organ symptoms. Frequent urination; kidney labs look okay, but my 24-hour collection was 0.09, which the doctor brushed off, but it worries me—logic suggests if kidneys are working right, that number shouldn't be there. Then there's the digestive issues and gas, plus my gut sounds are so loud you can hear them from across the room, though it's not constant. Finally, muscle fasciculations in my legs, arms, and chest—sometimes making me think it's my heart—happen less frequently now, but they still flare up for weeks at a time.

Steven Gray2 said:I have prominent telangiectasia symmetrically across my abdomen just below the ribs—small, long lines rather than dots—plus some on my bridge and inside my nose, and in my mouth on the soft palate and throat near the lymphatic tissue. My latest scans show slight degenerative changes in both knees (maybe from 17 years of running with bad form, maybe illness, who knows). My mouth isn't dry, except when I first wake up because I breathe through my mouth due to a deviated septum. My eyes aren't dry either; I see some capillaries, but there's no irritation, pain, or itching. My nails have pronounced vertical lines and some pitting. Cuticles look fine. Capillaroscopy wasn't performed. Then there’s this subjective feeling that I've lost significant subcutaneous fat in my lower legs and some muscle mass in my arms and legs. It feels like my tendons have lost flexibility. I mentioned one wrist moves out of alignment—it doesn't pop, but it drifts during pronation and supination. I also have stretch marks on my thighs and hips, which could be from my weight swinging from 207 lbs down to 138, then back up to 180, or it could be a collagen issue. Add in genetic connective tissue disorders like Marfan and Ehlers-Danlos... and then there are the organ symptoms. Frequent urination; kidney labs look okay, but my 24-hour collection was 0.09, which the doctor brushed off, but it worries me—logic suggests if kidneys are working right, that number shouldn't be there. Then there's the digestive issues and gas, plus my gut sounds are so loud you can hear them from across the room, though it's not constant. Finally, muscle fasciculations in my legs, arms, and chest—sometimes making me think it's my heart—happen less frequently now, but they still flare up for weeks at a time.

About 95% of patients with scleroderma test positive for ANA antibodies. If those come back negative, you usually have to look for the cause somewhere else. That's especially true since the anti-Scl-70 is negative here. Anti-U3-RNP could still be positive, which would mean a better prognosis, and sometimes the anti-centromere antibody (AMA) is positive.

Since everything is testing negative for you, and considering how much you're focusing on these symptoms, I'm leaning toward local anxiety or depression being the culprit.

It’s possible, though my doctor just casually brought up genetic autoimmune conditions, which includes VEDS—though I don't show many obvious symptoms there. Then there's Marfan; my grandfather was abnormally tall, and while he didn't have scoliosis, his whole build was textbook. He eventually passed away later in life from stomach cancer, which wasn't even linked to Marfan, just years of heavy drinking out in the rural areas. He did beat Hodgkin, though. Look at Michael Phelps—he has Marfan, yet with regular heart monitoring, he conquered swimming; those long arms actually gave him an edge. Ironic, right? I meet certain criteria for Marfan, and luckily I know surgeons who can handle the necessary procedures, but some of my physical traits come from sucking my thumb too much as a kid, resulting in a high palate. I'm also not sure if my mild scoliosis is from that or just a massive growth spurt in a short window. Then there's the third one, which was only discovered in 2005: Loeys–Dietz syndrome. Now comes the fun part: hunting for a specialist to run screenings and refer me for genetic testing if I qualify under the insurance guidelines. For middle-class Americans, that cost is basically a pipe dream. It’s a brutal disease; it goes straight for the aorta and other arteries, causing aneurysms and all that stress. I spent 17 years being hyperactive with long-distance running, so now I stick to cycling maybe 5 or 6 days a week. Constant training puts stress on the heart, and I've developed what you'd call "athlete's heart," so most of my parameters are hovering near the upper limits. My annulus, ST junction, ascending and descending aorta all have room to grow and are currently normal, but my aortic root is at 3.5, which is already pushing the upper limit of normal. Again, my heart adapted over time; my EF is over 70%, TAPSE and the right side are working smoothly, and there are no issues with valve regurgitation. My aortic valve is tricuspid and the issue is trivial—hardly visible without ultrasound and it doesn't affect valve function, and thicknesses look good. My blood pressure is textbook, so cardiologists didn't give me any restrictions back then, but we'll see what happens once the full picture emerges.

It’s all pretty delicate. These rare autoimmune connective tissue diseases are a mess—some are hereditary, some are inflammatory, and if I saw correctly, there are about 300 of them. This last one can even mutate in offspring even if the parents showed nothing. Most people only find out they have it during some other screening when a doctor says, "Hey, your aorta is nearly 5 cm... let's get moving." There are a lot of similarities with scleroderma symptoms, which can be a deciding factor. Specialists doing the screening really need to weigh where to send a patient for specific genetic testing. I highly doubt Medicare is going to pick up the tab for 5 or 6 tests, which could easily hit $50k. The worst part is that affected aortas tend to be prone to dissection much earlier than aortas enlarged due to other causes. But what can you do? If you're fighting genetics, it’s like trying to fight a math equation from college—you just can't. You just hope you react in time; the primary goal is to fix the immediate issue and then monitor everything else. I'll post updates here once I get my tests done, just in case anyone else finds themselves facing similar symptoms or wondering what steps to take next. On top of all this, my rheumatologist banned me from taking Pregabalin, so now I'm stuck relying on Gestalt therapy just to cope with it all.

Steven Gray2 said:It’s possible, though my doctor just casually brought up genetic autoimmune conditions, which includes VEDS—though I don't show many obvious symptoms there. Then there's Marfan; my grandfather was abnormally tall, and while he didn't have scoliosis, his whole build was textbook. He eventually passed away later in life from stomach cancer, which wasn't even linked to Marfan, just years of heavy drinking out in the rural areas. He did beat Hodgkin, though. Look at Michael Phelps—he has Marfan, yet with regular heart monitoring, he conquered swimming; those long arms actually gave him an edge. Ironic, right? I meet certain criteria for Marfan, and luckily I know surgeons who can handle the necessary procedures, but some of my physical traits come from sucking my thumb too much as a kid, resulting in a high palate. I'm also not sure if my mild scoliosis is from that or just a massive growth spurt in a short window. Then there's the third one, which was only discovered in 2005: Loeys–Dietz syndrome. Now comes the fun part: hunting for a specialist to run screenings and refer me for genetic testing if I qualify under the insurance guidelines. For middle-class Americans, that cost is basically a pipe dream. It’s a brutal disease; it goes straight for the aorta and other arteries, causing aneurysms and all that stress. I spent 17 years being hyperactive with long-distance running, so now I stick to cycling maybe 5 or 6 days a week. Constant training puts stress on the heart, and I've developed what you'd call "athlete's heart," so most of my parameters are hovering near the upper limits. My annulus, ST junction, ascending and descending aorta all have room to grow and are currently normal, but my aortic root is at 3.5, which is already pushing the upper limit of normal. Again, my heart adapted over time; my EF is over 70%, TAPSE and the right side are working smoothly, and there are no issues with valve regurgitation. My aortic valve is tricuspid and the issue is trivial—hardly visible without ultrasound and it doesn't affect valve function, and thicknesses look good. My blood pressure is textbook, so cardiologists didn't give me any restrictions back then, but we'll see what happens once the full picture emerges.

It’s all pretty delicate. These rare autoimmune connective tissue diseases are a mess—some are hereditary, some are inflammatory, and if I saw correctly, there are about 300 of them. This last one can even mutate in offspring even if the parents showed nothing. Most people only find out they have it during some other screening when a doctor says, "Hey, your aorta is nearly 5 cm... let's get moving." There are a lot of similarities with scleroderma symptoms, which can be a deciding factor. Specialists doing the screening really need to weigh where to send a patient for specific genetic testing. I highly doubt Medicare is going to pick up the tab for 5 or 6 tests, which could easily hit $50k. The worst part is that affected aortas tend to be prone to dissection much earlier than aortas enlarged due to other causes. But what can you do? If you're fighting genetics, it’s like trying to fight a math equation from college—you just can't. You just hope you react in time; the primary goal is to fix the immediate issue and then monitor everything else. I'll post updates here once I get my tests done, just in case anyone else finds themselves facing similar symptoms or wondering what steps to take next. On top of all this, my rheumatologist banned me from taking Pregabalin, so now I'm stuck relying on Gestalt therapy just to cope with it all.

Sir, based on everything you've said, your results seem perfectly normal, including the echo and other tests. Athlete's heart isn't a disease; it's a physiological variation. An ascending aorta of 3.5cm isn't the upper limit; it's a normal finding. The upper limit is usually around 4 or 4.2cm. An LVEF >65% indicates normal heart function. Those 5cm aortas you mentioned are likely incidental findings in the abdominal aorta, which can be influenced by smoking and lifestyle.

Screening for Loeys-Dietz is typically done at specialized centers only after a specialist recommends it following an abnormal echo or because of a known relative with the condition. Patients with Loeys-Dietz don't necessarily have to be tall; it's not a requirement. I have experience with both types of patients, as well as with Scl-70.

I’m seeing a pattern here—first it was this intense obsession with sports, and now it’s shifted toward being fixated on your own body proportions. Honestly, I think you need to see a specialist immediately, though I'll say again: don't just go to an internist. Your behavior is genuinely concerning, though primarily for your own sake rather than how it affects others. It feels like it’s really holding you back from living a normal life and building relationships, not to mention how draining this must be on your bank account. You really need to figure out what's driving this and get some help.