Hi beth just got my period feeling more energetic, and less tight. I guess tightness is spasticity but i never get jumpy just super tight, Example I can walk across the room today. A couple dats ago barely wall walk. I was looking at blood work from a couple months ago that showed h63d GENE mutatation but my iron levels do not appear particularly elevated. What am I looking for exactly. It is funny on the weekend of nov 14 i went to a party after I had just had a ton of blood drawn for all those tests and I was significantly more mobiile . I never really conected the dots but wow I wonder if it was all the blood being removed. Hmmm
I've posted this elsewhere, but wanted to let you know that if you have a combination of the H63D gene and something called PCT you can load iron without showing very high levels of iron on blood tests.
A doctor could easily miss it. They don't generally check transferrin saturation on a routine iron blood test. You need that test.
You need to read up on PCT (porphyria Cutanea Tarda) and the other porphyrias. You can carry the genetics for PCT and not have obvious symptoms like me. I get the rash, not so much now, but for 30 years+ from age 16 it never went away. They told me it was eczema at the time.
PCT attacks have many symptoms similar to MS, but they can be differentiated, that includes lesions and spasticity and combined with a HH gene you also get fatigue and stiff joints.
Porphyria cutanea tarda
Porphyria cutanea tarda (PCT) is characterized by the defective uroporphyrinogen III decarboxylase enzyme. There are 3 types of porphyria cutanea tarda with typical skin manifestations; patients present with skin fragility, erosions, vesicles, bullae, and milia in sun-exposed areas of the skin. Sometimes, there is the presence of periorbital mottled hyperpigmentation and hypertrichosis, sclerodermoid changes, and ulceration.
Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are both risk factors for PCT. In a French cohort of PCT patients with both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity.19 Up to two thirds of Saxon patients with PCT carry the classic HFE mutations (C282Y and/or H63D). PCT is associated with antibodies to HCV. PCT is an important extrahepatic manifestation of HCV-infection.20 In a Swedish cohort, 38% of male patients with PCT had a history of alcohol abuse.21
Magnetic resonance imaging (MRI)
MRI of acute intermittent porphyria demonstrates multiple large, contrast-enhancing, subcortical white matter lesions, which regress with glucose and hematin infusions. Diffusion-weighted MRI is normal, and MR spectroscopy excludes acute demyelination or tissue necrosis. MRI findings of acute intermittent porphyria can differ from those in posterior reversible encephalopathy syndrome by virtue of intense contrast enhancement. Because diffusion-weighted MRI and MR spectroscopy are normal, the lesions are likely caused by reversible vasogenic edema and transient breakdown of the blood-brain barrier.52
T2-weighted MRI sequences demonstrated multiple white-matter, high-signal lesions in 4 of 16 acute intermittent porphyria gene carriers (25%).53 Kupferschmidt and colleagues54 described 2 patients with acute intermittent porphyria who presented with cortical blindness. MRI showed bilateral occipital lesions, and the investigators speculated that these lesions were caused by vasospasm-induced ischemia due to unopposed cerebral vasoconstriction that resulted from a deficiency of nitrous oxide synthase, a major vascular dilator.
The striking feature of the MRI findings in these cases and in those of acute intermittent porphyria described in the literature is that the lesions are bioccipital and partially or totally reversible. These characteristics are typical of MRI findings seen in patients with hypertensive encephalopathy, and many patients presenting with acute intermittent porphyria attacks have high blood pressure on presentation.55
In cases of porphyria cutanea tarda, MRI of the liver shows poorly defined areas, which, on T2-weighted sequences, exhibit a hypersignal with fat saturation. Treatment of porphyria cutanea tarda may lead to clinical remission and resolution of radiologic abnormalities
Add a bit of extra iron overload because of a hemochromatosis gene and you can see why it is a bad combination, but it's not MS.
I have this combination and it's reversible with phlebotomy.
I've had phlebotomy and I'm feeling like I'm back in my 20's again.
Maybe my lesion has now disappeared, hope so.
The other interesting thing is, in menstruating women you feel better when menstruating, worse in the luteal phase prior to menstruating! This is significant, that was my main clue. I've cracked it!
Cheers....hope that's helpful