I am a 46 yr old female that has been dx'ed with a mitochondrial myopathy but now they think I have pompe disease instead. I have had a positive GAA dried blood spot. A genetic analysis is being done to find the specific genetic mutations. I have proximal and resp. muscle weakness. I have also been followed by CT chest for some nodules. I had a CT in June 2010 that showed the nodules along with possible AV malformations of the LUL. I had a CTA in December to f/u on this.I also have had a persistent enlarged PA. I had a nl RHC but the FICK was elevated mildly.
Here is the report. There is enlargement of the PA measuring 3.4 cm. There is biapical pleural thickening. There is subsegmental atelectasis in the dependent lung bases bilaterally. There is a 4 mm nodule in the left upper lobe. There is a 4 mm groundglass left apical nodule. Partially calcified 4 mm nodule in the lingula and a 2 mm left upper lobe nodule is unchanged.As seen on the prior study , there are curvilinear opacities in the left hilum,anterior to the left PA, with communication with the pulmonary vein,most consistent with pulmonary AVM's. The arterial supply is not definitely delineated. These lesions do not show significant change in density in the arterial and delayed images. There is multilevel degenerative oteophytosis in the spine. Impression: 1. Curvilinear opacities in the left hilum, favor AV malformations 2. Groundglass left apical nodule, more prominent compared to the prior study. The remainder of the nodules are unchanged. 3. Persistent enlargement of the main pulmonary artery suggestive of pulmonary arterial hypertension. My dr. just told me to watch for hemoptysis. I know pulmonary AV malformations are not that common and even less common in the upper lobes. Should they be treated? I have read about possible complications from them. Also, my pulmo. told me I have alveolitis. I assume that is what the groundglass nodule is. Any insight you could give would be helpful. Thanks
Mitochondrial myopathies and Adult Pompe’s Disease are very rare conditions but each can be diagnosed with some certainty. The positive GAA is suggestive of the latter. The following is an abstract of a report on Pompe’s Disease, published in 2009. I have highlighted a section that appears to be relevant to your condition.
Authors Full Name American Association of Neuromuscular & Electrodiagnostic Medicine.
Title Diagnostic criteria for late-onset (childhood and adult) Pompe disease.
Source Muscle & Nerve. 40(1):149-60, 2009 Jul.
Abstract The diagnosis of late-onset (childhood and adult) Pompe disease can often be challenging, as it is a rare disease and the heterogeneous clinical presentation can mimic the presentation of other neuromuscular disorders. The objective was to develop a consensus-based algorithm for the diagnosis of late-onset Pompe disease. A systematic literature search was conducted, and an expert panel composed of neuromuscular specialists and individuals with expertise in Pompe disease reviewed the literature and convened for consensus development. An algorithm for the diagnosis of late-onset Pompe disease was created. Patients presenting with either a limb-girdle syndrome or dyspnea secondary to diaphragm weakness should undergo further testing, including evaluations of muscle strength, motor function, and pulmonary function. A blood-based acid alpha-glucosidase (GAA) enzyme activity assay is the recommended tool to screen for GAA enzyme deficiency. The diagnosis should be confirmed by a second test: either a second GAA enzyme activity assay in another tissue or GAA gene sequencing.
Given the rarity of this condition, it would be helpful for you to seek consultation at a major medical center, if you have not already done this, such as the Mayo or Cleveland Clinics. You might wish to contact the American Association of Neuromuscular & Electrodiagnostic Medicine.for recommendations on specialists in your geographical area.
While usually indicative of pulmonary hypertension, pulmonary arteries can be enlarged for other reasons, including structural abnormalities of the blood vessel wall. You mentioned having had a “normal right heart cath” and that would be inconsistent with the diagnosis of pulmonary hypertension. You should clarify this with your doctors. Dependent upon the exact diagnosis, the pulmonary hypertension diagnosis, if valid, might or might not be a manifestation of that diagnosis. Either way, it would be appropriate to further characterize the pulmonary hypertension and its etiology, to determine if one it is treatable and if one of the newer treatments for pulmonary hypertension might be applicable to your disease.
The same advice applies to management of the A-V malformation. You ask, “should they be treated?” This too is a relatively uncommon condition, with multiple variants, so that consultation at a medical center with expertise and experience in the management of this condition would be my recommendation, to best answer your question. Depending on the size and location and the severity of your pulmonary hypertension the risk of massive bleeding could vary considerably and with determination of that risk, recommendations on management could vary from surgical removal to coil embolization of the lesion to continued observation. You are most likely to get optimum recommendations at a medical institution where such lesions are commonly seen. Your doctors could assist you in finding the Medical Center, with such expertise, nearest to you.
Your description of the nodules suggests that they are probably benign but it is conceivable that one or more of these, especially if uncalcified, could be an early stage AV malformation.
Your conditions are uncommon (the AV malformation) and ? pulmonary hypertension and rare (Pompe’s). Each may, perhaps in part, be treatable but to know that and receive optimum therapy, you and your doctors will need to seek-out the greatest expertise available, anywhere in the country.
Something you can start doing, to get extra oxygen into the body and fight the lung problems. You will also get the expert answer.The pranayam will help you long term for rest of life.
Build up your timing gradually.If you feel tired or dizzy, stop and resume after one minute.
Anulom Vilom pranayam –
Close your right nostril with thumb and deep breath-in through left nostril
then – close left nostril with two fingers and breath-out through right nostril
then -keeping the left nostril closed deep breath-in through right nostril
then - close your right nostril with thumb and breath-out through left nostril.
This is one cycle of anulom vilom.
Repeat this cycle for 15 to 30 minutes twice a day.
Children under 15 years – do 5 to 10 minutes twice a day.
You can do this before breakfast/lunch/dinner or before bedtime or in bed.Remember to take deep long breaths into the lungs.You can do this while sitting on floor or chair or lying in bed.
January 10, 2011
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