- CASE FILE
Since 2006 I've had a series of "flare ups" that have progressively gotten worse. Weight loss and fatigue are the most persistent symptoms.
ABOUT THIS CASE FILE
In 2008 I started to have severe right hip joint pain. I was 28 and far too young. After a gadolinium enhanced MRI I was diagnosed with degenerative bone disease. I was 5’10, 160 lbs & in excellent physical condition… very active and healthy.
By 2009 I was down to 140 lbs and ended up in the hospital in severe lower abdominal pain. I was extremely fatigued, dropping weight, passing blood clots and a lot of mucous. My CT results were as follows: Bowel gas pattern is unremarkable without evidence of obstruction. No free intraperitoneal air is seen. No radiopaque urinary calculi is visualized. There is no organomegaly. The lungs are clear without focal pulmonary opacity or pleural effusion. The cardiomediastinal silhouette is within normal limits. Incidentally noted are bilateral prominence of the lateral aspect of the acetabulum. Also noted is small hump over the superior femoral necks bilaterally.
By the end of 2010 I was down to 120 lbs. The hip pain had turned into lower back, hip, and thigh bone pain with sciatica that was excruciating. Every time I stood up my legs would go completely numb, especially if I was carrying/holding something. I spent night after night for months lying in my living room floor crying. I shattered my right hand in 14 places in my front yard stumbling over my dog & my teeth also began to rapidly decay, break, and fall out, baffling my dentist.
Then towards the end of 2011 while at work, I was walking from the main office to the back of the property talking to a coworker when I felt a pop in my back followed by excruciating pain and a completely numb right leg. I was taken to the ER, and referred to an orthopedic doctor. After an MRI he diagnosed me with L5S1 compression. Workman’s Comp company representative at my first doctors visit kept insisting I couldn’t possibly be telling the truth, there was no way I injured myself, that bad, just walking. I spent the next year in a huge back brace, doing physical therapy, & epidural pain blocks. I spent the next 4 years in back pain & sciatica, especially at night. Eventually I got healthy enough to get back in the gym and regain almost all the weight I had lost by the end of 2015. I also noticed that my back pain & sciatica was slowly dissipating. Aside from a rough day here & there, I felt great for the first time in 10 years. I took full advantage and got myself into the best shape of my life. I was running 5k’s, in the gym 3x a week, and aside from what I assumed was IBD I was doing great.
Until 2017… I ran my last 5k in February, by the end of April I was back at my doctors office extremely fatigued and 20 lbs lighter than I was 6 months prior (140). He ran a bunch of blood work and was leaning towards my thyroid but everything came back normal. He advised I up my calorie intake and we just keep an eye on it. I kept losing weight and feeling completely fatigued no matter how much rest I got straight through the next summer. I moved from Florida to Alabama in November.
Then in May of 2018 I began to feel much worse. I was down to 120 lbs again, I got a terrible rash on the inside of both my thighs, my skin turned yellow, I got blood spots all over my body, muscle weakness, night sweats, stinging red patches on my forehead, itching severely on hips and tailbone that turned to a burning sensation when in a hot shower, diarrhea, reactive hypoglycemia, hip & upper thigh bone pain, bloated abdomen, frequent urination, dizzy and just yucky feeling when bending over or squatting then standing repeatedly(work), and insomnia. At the beginning of July I ended up in the hospital for 5 days in severe pain. It was diagnosed as acute proctitis and acute left upper quadrant abdominal pain of undetermined cause (I thought it was my spleen). After 5 days of antibiotics, steroids, and fluids I was released. I followed up with my primary care that ran a bunch of blood work & sent me to a gastroenterologist. The labs indicated that my ALT, AST, & ALP were all elevated so a liver ultrasound was ordered. “ill defined hypo attenuation adjacent to the intersegmental fissure is compatible with focal fat” – NAFLD (nonalcoholic fatty liver disease) diagnosis. I was sent a letter in the mail with the diagnosis and a remedy to exercise more and lose 7-10% of my body weight(119 lbs). Over the next 5 months my symptoms persisted and I was admitted into the hospital 5 more times with the same symptoms. It was called a number of different things every visit. Localized enlarged lymph nodes, abnormal weight loss, anorexia, solitary pulmonary nodule, pruritus, nonalcoholic steatohepatitis (NASH), diverticulosis of large intestine, acute proctitis, acute left upper quadrant abdominal pain of undetermined cause, transaminitis, popular / nodular rash, pleurisy, urticaria, and the list goes on… Finally after being turned down by an oncologist he sent a referral to and him telling me he couldn’t find anything wrong with me I saw another primary care doctor February 2019. By this time the worst of my symptoms had passed but I was still dealing with the fatigue and weight loss. A full body CT scan was done and a ton of blood work. At first everything kept coming back normal…
Below are your lab results that we have so far and my interpretation of them. Everything is surprisingly very normal so far:
Kidney function and electrolytes are normal.
Urine studies were normal, not indicating bleeding, infection, or chronic kidney disease in the urinary tract.
Liver tests are normal.
HIV test is negative.
Blood counts are normal.
Coagulation (blood clotting) tests are normal.
Inflammatory markers are negative making rheumatologic or infectious condition unlikely.
Pancreas labs are normal making pancreatic problem unlikely.
Your PSA, the test we sent to screen for prostate cancer, was normal.
Hemoglobin A1c is normal meaning you do not have diabetes or prediabetes.
Thyroid function is normal.
Liver tests were negative for Wilson's disease, hemochromatosis, or hepatitis
Given that your inflammatory markers are normal, I feel that inflammatory bowel disease (like Ulcerative colitis or Crohn's disease) is unlikely.
Vitamin A & K level is normal.
ANA was negative.
Anti-smooth muscle antibody was negative.
Alpha-1 antitrypsin done in the past was normal.
IgA and IgG were normal.
M2 antibody was negative.
Celiac test was negative, including IgA antibody and a tTG.
Calcium level was normal.
Colonoscopy was completely clear, no rectal wall thickening or diverticuloisis as seen on multiple CT’s, no biopsies taken – next colonoscopy at 50 yrs old.
Elevated light chain proteins
Elevated Alpha 2 immunoglobulin
Here she lists everything seen on CT and noticed in my labs...
The positives we have in his workup have included non alcoholic fatty liver disease, hypoglycemia, mild extrahepatic duct dilatation, rectal wall thickening, rectal prolapse, noninflammatory colonic diverticulosis, mild diffuse peribronchial wall thickening with small 2mm soft tissue/secretions within the anterior wall of the bronchus intermededius, bilateral upper lobe predominant centrilobular emphysematous changes with minimal biapical pleuroparenchymal scarring, bradycardia, mild left ventricle dilatation, mild dyastolic dysfunction, small hump over the superior femoral necks bilaterally, moderate degenerative changes of the bilateral acetabula, osteoarthritic changes of the hips bilaterally, elevated light chains, Alpha 2, and M-spike.
“39yo male w h/o ongoing generalized symptoms with unclear etiology as above -- workup now indicative of
amyloidosis / multiple myeloma -- has appt w HemaOnc on 4/2/19 for further treatment planning.”
I did go to the hematology-oncology doctor…
Abnormal serum protein electrophoresis
“I reviewed with Mr. XXXX the results of his SPEP, immunofixation and FLC. Even though the report calls for an "M spike" of 0.48 the immunofixation demonstrates that the small "peak" is not monoclonal. Moreover, there is a normal K/L ratio. I reviewed with patient that he also does not currently have any other features for plasma cell dyscrasia, particularly, no anemia, no renal dysfunction, no hypocalcaemia, no hypoalbuminemia.
Unfortunately Mr. XXXX did not feel reassured despite my repeated attempt to explain the findings and explain why I don't believe subsequent test is needed. Indeed, he asked for a bone marrow biopsy and was very frustrated by my explanation that one is not needed.
At this point I do believe Mr. XXXX is too young to be dealing with any hematologic condition and the diagnostic work up for his symptoms (if any) need to be addressed by a generalist. I believe that a bone marrow biopsy would not be indicated. He evidently can seek a second opinion at a different institution.”
My primary care doctor…
" I spent an hour reviewing your case again, with regards to where to turn next; I do not believe that you need a bone marrow biopsy. I agree with Dr. Oncologist that you do not have Multiple Myeloma but I do think you deserve workup for amyloidosis through a tissue biopsy of some kind. Traditionally, this is done through fat pad biopsies but you do not have any fat pad for us to biopsy. Furthermore, biopsies of "involved organs" are typically higher yield than fat pad biopsies. I have sent a message to a colorectal surgeon, to see if she would be willing to perform a rectal biopsy for the purpose of evaluating for amyloidosis. I will let you know her answer when I hear back from her.
A rectal biopsy was taken and no amyloid was found. The primary care doctor said she had done a better workup on me than she had ever done on a patient, that because the biopsy was negative she did not believe I had amyloidosis and she apologized she couldn’t give me a diagnosis or differential but “sometimes people just get sick.”
So here I am… the weight loss and fatigue persist, I am currently 39, 120lbs, 5'8.5... an inch and a half shorter and 40lbs lighter. I look like a skeleton and my 11 year old daughter now outweighs me. I KNOW something is wrong with me and I dread the thought of the next "flare up." This has been the most frustrating experience of my life!