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    • #22047
      Colleen Steele
      Keymaster

      A new member to the PH forums recently shared that she is also living with another rare disease, HHT, Hereditary Hemorrhagic Telangiectasia.

      HHT leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.

      It is helpful to connect with others facing similar struggles. If you are living with both HHT and PH, we invite you to share your experience with us.

    • #22073
      Mary Easley
      Participant

      Thank you Colleen. Curious if there are others with my special “gifts.”

    • #22090
      Scott
      Participant

      Unfortunately, PH and PAH are under-diagnosed in the HHT population. People with the Alk-1 (now called ACVRL-1) mutation have about a 1 in 100 chance of developing PAH. It is important for HHT patients to understand this risk. Likewise, it is important for PAH patients with symptoms of HHT (nosebleeds and family history of nosebleeds) to be aware of this possible connection. HHT has other manifestations that can be devastating but are usually treatable if the disease is known and screening is done. PAH medications often make nosebleeds worse. Nosebleeds can be life threatening in HHT patients and many are anemic because of them which puts extra stress on the heart.

    • #22094
      Brittany Foster
      Keymaster

      Scott,
      This information is really useful to know. Thank you for sharing. You’re right that those with frequent nosebleeds should be looking into the reasons why this may be happening to them and can get tested for certain conditions that may be contributing to them or making things worse. It is hard when taking a medication that helps one thing but may end up making something worse. Definitely why it is important to keep track of symptoms while starting anything new.

    • #22102
      Colleen Steele
      Keymaster

      Scott, thank you so much for sharing your knowledge and experience. I think this is a perfect example of how no symptom should be ignored or dismissed as unimportant.

    • #22303
      Jessica Kiser
      Participant

      I have both! I try to spread awareness about HHT in the PH groups I’m in, and vice versa.

    • #22318
      Colleen Steele
      Keymaster

      Jessica, I really believe that each person that takes steps to spread awareness, makes a difference. It might not seem like it to people recently diagnosed, but I have witnessed progress over the past 10 years in people getting diagnosed sooner than later and the disease becoming a little more known. I hope in another 10 years there will be real hope for patients. Thank you for doing your part to spread awareness!

    • #22320
      Brittany Foster
      Keymaster

      Jessica,
      That is so important ! I am living with multiple chronic illnesses that stem from a rare condition that I have and I like to do my part by spreading awareness in those groups too. At least just signs and symptoms for people to take seriously and not just “brush off”. I always think about what things could have been like if I got diagnosed sooner or if I actually listened to my body when it was telling me warning signs.

    • #22341
      Dame Jose
      Participant

      I have HHT in the form of arteriovenous malformations in my brain and in my lungs. My eldest sister also had pulmonary avm. We both developed PAH after undergoing embolization/coiling procedures. My sister died awaiting for the transplant. I have worked with genetics unfortunately I tested negative on the mutated genes that cause HHT making it difficult to know which one among my children have it.

    • #22346
      Brittany Foster
      Keymaster

      @damejose That certainly would make things more challenging especially if they can’t identify the specific gene that is causing this. Is it just a random mutation that is effecting your family or is it something that can be tested for when kids are younger and possible help to be pro-active about getting treatment and the right testing sooner rather than later. This is something that my family and I have gone through because there are differences in the expression of the gene within my mom’s side. Some have spinal and skeletal malformations, others have bladder and bowel conditions and some (like me) have the whole lottery of it with the spinal, bladder and bowel, and cardio vascular malformations. Hard to pinpoint exactly WHY it’s expressed so severely in some and not others. Genetics is really an interesting field of study.

    • #22348
      Mary Easley
      Participant

      Dame Jose, thank you for posting. Do pulmonary AVMs cause hemoptysis? When I was finally diagnosed with PAH 2 years ago, I went to the hospital with scary hemoptysis. Like a faucet had been turned on in my lung. No recurrence of that, just severe nosebleeds causing anemia. Wasn’t diagnosed with HHT until a few months ago while getting blood transfusions. This Tuesday I am being transitioned from Tyvaso (inhaled treprostinil) to Remodulin (treprostinil delivered IV through a central line). The treprostinil dosage will be significantly greater on Remodulin. One of the side effects of treprostinil is bleeding. My nosebleeds did get worse on the Tyvaso. Do you or any forum members have experience with treprostinil, bleeding, and/or HHT?

    • #22349
      Scott
      Participant

      With no identifiable gene are they getting clinically screened for brain and lung AVMs ?

    • #22351
      Brittany Foster
      Keymaster

      Mary,

      I know that there definitely are users on here that have mentioned nose bleeds before too. Not necessarily sure if it was caused for them by the medications but they offer some good suggestions and advice from personal experience. It should be under the forum “side effects and symptoms” but I will see if I can find that topic for you and will post the link here.

    • #22352
      Brittany Foster
      Keymaster

      @contrarymary here is the link for that topic:

    • #22354
      Mary Easley
      Participant

      Is gene testing available through my PAH doc at Loma Linda or do I have to go to an HHT center? I met 3/4 of Curaçao Criteria which is supposedly a positive diagnosis. My sister, who has horrible nosebleeds, lives in Portland and knows Dr. Mark Chestnutt, the head of the HHT center up there socially. She decided to put off genetic testing because of insurance coverage. I have a daughter who has cuticle and lip telangiectasias that burst and she will not accept the seriousness of getting diagnosed.

    • #22355
      Mary Easley
      Participant

      Thanks Brittany. Happy New Year!

    • #22356
      Scott
      Participant

      Mary,

      Nosebleeds in HHT can get worse with Remodulin. This is not uncommon. The effect is not as bad as what the PDE5 inhibitors can do. If they do get worse you should discuss with your HHT doctor ways that might help them. This can include laser but sclerotherapy is a good option and can be done in an office setting. A trial of low dose doxycycline has also been helping some people.

      Also, PAVMs are indeed a cause for hemoptysis in HHT.

    • #22357
      Scott
      Participant

      Mary,

      Nosebleeds in HHT can get worse with Remodulin. This is not uncommon. The effect is not as bad as what the PDE5 inhibitors can do. If they do get worse you should discuss with your HHT doctor ways that might help them. This can include laser but sclerotherapy is a good option and can be done in an office setting. A trial of low dose doxycycline has also been helping some people.

      Also, PAVMs are indeed a cause for hemoptysis in HHT.

    • #22358
      Scott
      Participant

      Mary

      Many families with HHT have relatives who do not get testing for a number of reasons. Some are in denial and others do not understand the seriousness of the disease. Many of the devastating consequences of HHT such as stroke and even death can be prevented with proper diagnosis and screening for lung and brain AVMs. It is horrible to see families deal with these catastrophic events when they can be avoided. If your daughter has children, urge her to get tested so she can know if her children are at risk and they too can be screened. Genetic testing does not have to be done at an HHT center. Any physician should be able to order it. Sometimes a visit to a genetic counselor will help facilitate testing as well.

    • #22361
      Dame Jose
      Participant

      My mom only had nosebleeds my second son is now 20 years old have nosebleeds daily. We are to assume per his doctor that he has HHT. All my kids have to undergo through regular testings ct scan and mri to check for malformations. My doctor do want to start me on IV infusions and am not sure whether I should go with subcutaneous or the pic line. Is it safe for HHT patients to get this type of treatment?

    • #22363
      Colleen Steele
      Keymaster

      @damejose my son was on IV Flolan for 5 years and did well on it, but he did not have HHT. Is there a specialist for HHT? I would suggest having a doctor familiar with HHT and the doctor who wants to start IV or subcutaneous treatments, to connect with each other to discuss what would be best for you. I think that is a valid concern that you have.

    • #22366
      Scott
      Participant

      @damejose these meds are used in HHT patients although they can make nosebleeds worse. It would be good to see a doctor who knows HHT as well as PAH if possible. CureHHT.org has good information on PH and HHT. Here is a good talk on the subject by an expert in both.

    • #22368
      Mary Easley
      Participant

      Scott, I will ask my PAH MD next week about getting genetic testing. I have the best chance of it being covered by insurance since I have a related condition, rather than my sister or my daughter. I appreciate the fountain of knowledge you have shared.

    • #22369
      Mary Easley
      Participant

      Dame Jose, HHT is in many ways similar to PAH in that there are specialized HHT centers in universities across the United States. I don’t know if you or your children are being treated at such a center, but that is your best bet for diagnosis and treatment. From my understanding, HHT does not skip generations and if one parent has the mutation there is a 50% chance of passing it to offspring. In other words, if I have HHT and my brother does not, my children have a 50% chance of having HHT and my brother’s children have no chance (assuming an HHT negative mother).

    • #22386
      Brittany Foster
      Keymaster

      @contrarymary I would definitely ask your doctor about genetic testing. I know that when I had genetic testing done I was referred to a genetic specialist and they first did a whole family tree of conditions etc and then decided on what things to test for. It was really helpful to at least have this information. I know that my sisters are also skeptical about getting the testing done, but I look at it as a way to possibly help identify some genetic mutations and maybe even helping them create something so that children won’t have this gene in the future. I had a whole panel of genetic testing done when I was thinking about freeing some of my eggs to use in the future (now I am unable to do that) but still was good to have the information. It wouldn’t change the course of my life or anything, just for informative purposes and to have some type of over arching diagnosis. Makes it easier for the doctors too when they are trying to put all the pieces to a puzzle together.

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