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Doctor insights on: Alpha 1 Antitrypsin Deficiency

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Dr. Bernard Seif
18 doctors shared insights

Alpha 1 Antitrypsin Deficiency (Overview)

Trypsin is a protein (an enzyme) that the body uses to remove damaged/"unwanted" proteins. This protein needs to attack the right targets specifically but not nearby healthy necessary proteins. To help keep trypsin under control, another group of proteins have developed. Alpha-1 antitrypsin (alpha-1 AT) is a very important one. If a person is deficient, they tend to get emphysema at an early age.


Dr. Bernard Seif
18 doctors shared insights

Alpha 1 Antitrypsin Deficiency (Overview)

Trypsin is a protein (an enzyme) that the body uses to remove damaged/"unwanted" proteins. This protein needs to attack the right targets specifically but not nearby healthy necessary proteins. To help keep trypsin under control, another group of proteins have developed. Alpha-1 antitrypsin (alpha-1 AT) is a very important one. If a person is deficient, they tend to get emphysema at an early age.


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What sort of problem is alpha-1 antitrypsin deficiency?

What sort of problem is alpha-1 antitrypsin deficiency?

Genetic, familial: Genetic abnormality that can run in families, associated with emphysema, even without the usual triggers like tobacco use, and cirrhosis of the liver, even in the absence of triggers like chronic infection, alcohol use. Can cause problems in children and/or in adults. Can be tested for, can be rx'd. ...Read more

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Caring for an Elderly Loved One (Checklist)

Check your loved one's balance
once
Remove obstructions that could cause falls
once
Organize medications
monthly
Add railings for support
once
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IDA? RBC 4.880 HGB 13.70 HCT 45.0 MCV 92.20 MCH 28.10 MCHC 30.40 RDW 14.50 PLT 368 Serum Iron, 178 Ferritin, 10.6 TIBC, 470 UIBC 292 Saturation 38%

IDA? 
RBC 4.880
HGB 13.70
HCT 45.0
MCV 92.20
MCH 28.10
MCHC 30.40
RDW 14.50
PLT 368
Serum Iron, 178
Ferritin, 10.6
TIBC, 470
UIBC  292
Saturation 38%

This looks good: I'm not sure what your question is here, but overall this information regarding your blood counts looks good. You don't look anemic, the platelets that clot your blood are in good levels, and your infection fighting WBC's are at a good level. Have a great evening! ...Read more

Dr. Jeffrey Unger Dr. Unger
<b>2</b> doctors agreed:
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Living with Type 1 Diabetes (Checklist)

Hypoglycemia is common with type 1 diabetes
once
Check your blood glucose before and after 2 hours after eating
once
Hypoglycemia is likely if the post meal glucose is lower than premeal
once
If you do not feel hypo symptoms, consider use of a continuous sensor
once
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Triglycerides 453 hi. Glucose 132H.Bun 26H. Hemoglobin 11.7 low. Hematocrit 37.5 L. Mchc 31.2 L. RDW 15.5 H. MICROALB CREAT 240 H. VitD 22 L. Father60 and Diabetic . Rest of Cbc and othere normal. What could this be?

Triglycerides 453 hi. Glucose 132H.Bun 26H. Hemoglobin 11.7 low. Hematocrit 37.5 L. Mchc 31.2 L. RDW 15.5 H. MICROALB CREAT 240 H. VitD 22 L. Father60 and Diabetic . Rest of Cbc and othere normal. What could this be?

Need good care: You need to be under the care of a competent physician who can keep your diabetes under control and find the cause of your anemia, which i suspect is due to iron deficiency from blood being lose somewhere. We can't solve it here. If you have a specific question, let us know. ...Read more

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What are the symptoms of alpha 1 antitrypsin deficiency?

What are the symptoms of alpha 1 antitrypsin deficiency?

Emphysema: Aat deficiency affects primarily the lungs, leading to copd, particularly a panacinar emphysema. Symptoms are variable, but usually involve shortness of breath on exertion, cough, or wheezing. It can also affect the liver, causing chronic hepatitis, cirrhosis, and hepatocellular carcinoma. Necrotizing panniculitis is a rare clinical manifestation involving the skin. ...Read more

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Can pernicious anemia or severe vitamin B12 deficiency cause chronic non-specific duodenitis??

Can pernicious anemia or severe vitamin B12 deficiency cause chronic non-specific duodenitis??

Not clear: No clear evidence for the causal-effect relationship between the two. PA is an autoimmue-mediated destruction of parietal cells in stomach, resuling in impairmnent of B12 absorption. Certainly it is possible that pernicious anemia may co-exist or exacerbate duodenitis via immune process or loss of balance in duodenal fluid, or anemia. But the causal-effect relationship is not well established. ...Read more

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Iron deficiency anemia wid calcium deficiency?

Iron deficiency anemia wid calcium deficiency?

Fe -Ca: Ida is common in young menstruating females. Calcium deficiency? Quite odd at any age. Wonder if your Albumin is normal giving a falsely low calcium.... Why would anyone check a calcium in a healthy 18 yo? Maybe there is more to this story. Maybe you should talk to doc who drew your labs. ...Read more

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For 58+ F, Hb 10.8, RBC 3.66, PCV 34, MCV 94, MCHC 31, WBC 5.4, Pt 1.8, Iron 57, TIBC 255, TSI 22, RC 1.2, Ferritin 83 indicate which type of anemia ?

For 58+ F, Hb 10.8, RBC 3.66, PCV 34, MCV 94, MCHC 31, WBC 5.4, Pt 1.8, Iron 57, TIBC 255, TSI 22, RC 1.2, Ferritin 83 indicate which type of anemia ?

Mild anemia: Assuming you've had no recent bleeding episodes, these findings could be seen in mild/early anemia of chronic disease. Hgb and Hct are only boarder line low, and iron panel appears within the reference range. Even something as simple as a particularly heavy period could cause mild anemia of this type, though. If you have a chronic medical illness, it could cause this type of anemia. ...Read more

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Normocyt, WNL RDW, anemia-hgb 13, rbc 4.3. PO Fe for 1 yr w/ no improvement. Fe 58, ferritin 15, TIBC 347. Asymptomatic. Thoughts on IV iron?

Normocyt, WNL RDW, anemia-hgb 13, rbc 4.3. PO Fe for 1 yr w/ no improvement. Fe 58, ferritin 15, TIBC 347. Asymptomatic. Thoughts on IV iron?

Too aggressive: With the numbers you're presenting I'm not sure who put the idea of doing IV iron into your thought process. Hb-13 for age 74 isn't far off of expected norms for age. If you want to do SOMETHING check thyroids, serum zinc, serum magnesium, & serum Vitamin D. Eat more spinach, beans, dried fruit, seafood, & poultry. Questions? www.healthtap.com/drsaghafi Use Key Code: PDXFNR to make appointment. ...Read more

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+ Antimitochondrial M2 antibodies w/ 4previous elevated ALP's. Most recent ALP normal. Still suggestive for PBC?

+ Antimitochondrial  M2 antibodies w/ 4previous elevated ALP's. Most recent ALP normal. Still suggestive for PBC?

No: The diagnosis of PBC is made through liver biopsy. The other best tool is the biliruben. Taken together they give a diagnosis and prognosis for survival. As you know PBC is though to be an auto immune disease. ...Read more

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Should a child with COPD have a blood test, to rule out alpha 1 antitrypsin deficiency?

Should a child with COPD have a blood test, to rule out alpha 1 antitrypsin deficiency?

Probably...: If a child has copd, and not asthma, then an alpha-1-anti trypsin level probably ought to be checked. The child needs to have an evaluation so the proper diagnosis and treatment can be given! ...Read more

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My dad 70 yrs has macrocytic anemia. Hemoglobin 9.5, hematocrit 28. Hematologist gave maltofer pill a day. In a month hemoglobin 10 hematocrit 30?

My dad 70 yrs has macrocytic anemia. Hemoglobin 9.5, hematocrit 28. Hematologist gave maltofer pill a day. In a month hemoglobin 10 hematocrit 30?

What is the question: Please rephrase your question to get a better answer. Please discuss in detail with his hematologist. The fact that hematologist gave the iron- means that your hematologist thinks there is a component of iron deficiency. So, continue iron and f/u with your md. However, it does not fit exactly with macrocytosis. Other work up still needs to be done to see explanation for macrocytosis. ...Read more

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What are alpha-1 antitrypsin deficiency tests like?

What are alpha-1 antitrypsin deficiency tests like?

Blood test: Blood, more accurately serum, is examined for levels of Alpha 1 at. Electophoresis of serum also reveals deficiency and a detailed electrophoresis, iso-electric focusing, provides details of the abnormal protein. Dna also can be tested to ascertain the abnormality in the gene. ...Read more

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My ferritin level (15) dropped low (from 152) and tibc (471) is high, but iron is normal (71) and hgb remains slightly high (17.5). Iron deficiency?

No: Your hemoglobin is high not low that is the most probalbe reason your ferritin is low i simply would check my hemoglobin and the other tests in 6 12 monthst. ...Read more

Dr. Steven Griggs
29 doctors shared insights

Inherited Emphysema (Definition)

Inherited emphysema = alpha-1 antitrypsin deficiency which can destroy lung tissue ...Read more