Discussions By Condition: I cannot get a diagnosis.

major confusion!

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: Larissa
  • October 11, 2009
  • 09:30 AM

:confused:I have been diagnosed with multisystem disorder and edema, with underlying causal condition remaining undiagnosed.

Lymphatic anomalies are commonly diagnosed by pathology and imaging findings. In 2004 my soft-tissue ultrasound identified appearances in line with (previously known as) Lymphangioma Simplex. I believe this condition is also known as Capillary Lymphangioma, or microcystic lymphatic malformation? Areas involved are the head, tissue surrounding ears, mouth, neck, several 1cm nodules to the chest, clear cysts to the facial epidermal layers, chest area, arms, hands, small intestines (fragmented lining and evidence of repair), liver (thickening of tissue), with unidentified respiratory difficulties/apnea. All symptoms and areas commonly effected in Lymphangioma cases. Secondary Lymphoedma is suspected in the lower legs and feet. Trunk remains uninvolved. I am presently 38yrs, and illness was triggered at 28yrs due to hormonal change. There is evidence of poor lymphatic drainage within the neck and face, lymphatic blockages in the neck, and all common diseases, and connective disease have been ruled out. Imaging identified thickened large vessels and connective tissue
in close proximity to the epidermal layers, which cause skin breakage on a daily basis.

An MRI performed of the head and neck reported no malformations,or further findings other than subcutaneaous tissue thickening.

Years ago, A radiologist received his training at Westmead Children's Hospital, Sydney, as an interventional radiologist within Oncology Dept. During this time he was referred a Belgium case. He personally researched this same disease and assisted in the diagnosis of Lymphangioma Simplex (aka microscopic Lymphatic malformations). Dr Cormick is considered extremely experienced by his field and has recieved training in vascular anomolies within the US. Co-incidentally, this same radiologist offered a report to my soft-tissue ultrasound results, reporting my ultrasound was sensitive to appearances of Lymphangioma Simplex, but that results were non-conclusive (possibly due to imaging limits at the microscopic level, particularly when dealing with information within the subcutaneous tissue- where information may be missed (ie lymphangiomas/cysts). Professional limits restrict this radiologist from sharing his experience and history related to this disease. In confidence he offered tremendous supportive information and agreed I was likely to have this disease. Problem, with no multidiscipline team here in Australia experienced in this area,the radiologists opinion and imaging results have been disregarded. There is no onus upon any other field to consider these results for further investigation or diagnosis.
Secondly, specialists ignored symptoms ideal for tests (ie cysts), and denied pathology and imaging tests for many years. Untimely pathology tests returned non-specific. With my condition having improved due to a successful treatment, all I have as evidence of this disease are my imaging results from 2004, and my symptoms, found to be in line with case reports.

1. Can you please advise me, in your opinion, under the above circumstances,can a diagnosis be made from my ultrasound results as they remain, if my symptoms are also in line with this disease? Particularly as further pathology results are likely to produce non-specific results? I have heard that other cases of this disease have been diagnosed on less information in the past, and that many rare diseases with such difficulties have found diagnosis based only on symptoms.

2.Can Microscopic Lymphatic Malformations be missed within an MRI given MRIs comonly address macroscopic information, but not microscopic information? Or, would there be additional information within the MRI indicating a malformation to be present, even if the malformation was too small to detect? Could a malformation be missed by MRI in my case?

3. Given the lack of communication and respect for opinions between fields experienced in my case, can you please advise me as to how I might tackle these barriers in search of a formal diagnosis?

4. In cases such as my own, has it been known for effected (scarred or thickened) vessels and connective tissue to pressure and cause breakage to the epidermal layers? I have been told this is not possible, but suffer this problem on a daily basis.

If you are unable to address these questions, is there any chance you might know of anyone qualified to assist? Thankyou.

Thankyou for the enormous time you have allowed me, and for your advice. I look forward to hearing your response,

Kind regards

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