Atypical Cystic Fibrosis might only have mild dysfunction in 1 organ system and might or might not have elevated sweat chloride levels

(see also https://www.boaim2.se/complex-diseases/silent-killer/inflammation-and-microcirculation-can-microcirculation-dysfunctions-cause-drainage-blocking-as-atypical-cystic-fibrosis-in-upper-air-ways-can-do)

MRI 2024-01-21 indicates that there is no problem with TMJ, therefor the below is changed quite much and focuses on Atypical Cystic Fibrosis (ACF), which will be examined, but some own salt tests indicated ACF is the main reason to severe symptoms during short sleep periods. On the other hand, MRI does not say anything about the discs conditions, something I suspect concerning the left one (associated with the somewhat left-sided head trauma accident

1. Can ACF ”alone” slower and slower cause upper airways mucus build up until blockings? Or – TMJ, the ears, nose and throat are so closely connected that aggravation of the jaw line can result in excessive mucus production. TMJ sufferers often find a decongestant has little impact on their frequent congestion. Just to be sure about TMJ I suggest ”A Guide to TMD/TMJ” https://www.diamonddentalok.com/services/general-dentist/general-dentistry/tmd

But from 2024-01-21, TMJ is not the main focus if even that!

2. Adding also “Exostosis is almost always bilateral and usually presents medial to the isthmus of the external auditory canal. Patients may experience conductive hearing loss, tinnitus, inflammation and pain in the ear” (which also ear children can develop”) See e.g. Ear and Temporal Bone: Cartilaginous and Osseous Pathologies https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081291/


BvS->
Why main questions?
1.
While during sleep hard symptoms get gradually even worse waking me up after 1-2 hours at night. Valsalva Maneuver does work at all (Eustachian tube ”closed”?) – nose and Maxillaris is ”full” and (”vice similar”) pain in the neck is increasing (and is probably what wakes me up). Going up doing movements including walking, moving whole body decrease at little the pain enabling me to sleep again until next waking up. Unfortunately, symptoms gradually increasing night by night ….
2. While many ear infections with many myringotomies, at very young age, often give problems later in life

Cystic fibrosis is an inherited condition that causes sticky mucus to build up in the lungs and digestive system. This causes lung infections and problems with digesting food. https://www.nhs.uk/conditions/cystic-fibrosis/

Atypical CF is a milder form of the CF disorder, which is associated with mutations of the cystic fibrosis transmembrane receptor gene. Instead of having classic symptoms, individuals with atypical CF might only have mild dysfunction in 1 organ system and might or might not have elevated sweat chloride levels.

Atypical CF is a very diverse disorder affecting different organ systems to varying degrees. The symptoms patients experience can also fluctuate over time; however, certain clinical signs and symptoms affecting the respiratory, gastrointestinal, endocrine and metabolic, and genitourinary systems should alert physicians to the possibility of CF. Patients with atypical CF often have fewer hospitalizations during childhood than those with classic CF do, and the disorder can remain undiagnosed for many years, at times into adulthood.

Conclusion: Although patients diagnosed with atypical CF have longer life expectancies than individuals with classic CF, the long-term expected outcome for many individuals with atypical CF is unknown. It is important to counsel patients about the possibility of future illness. Education about CF can help patients understand their symptoms, modify their lifestyles to optimize health, reduce the incidence of complications, and receive family planning counseling when appropriate.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520658/

Most adult diagnoses are made once an individual exhibits symptoms. The most common symptoms include chronic coughing, recurrent sinus infections, infertility, and inability to gain weight. Abnormal bowel movements may also be an indication. 

In atypical CF, respiratory symptoms are often more mild and might not begin until adulthood but still include recurrent pneumonia, progressive obstruction possibly identified as asthma or chronic obstructive pulmonary disease, chronic sinusitis, or nasal polyposis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520658/
In my case blasting/exploding like symptom clusters sounds/pain permanent since October 2019 but gradually increasing symptoms last 6 months during shorter and shorter sleep periods indicating increased complexity which may be associated with ACF. 

Or – “Atypical CF is a milder form of the CF disorder, which is a result of mutations of the CFTR gene. Individuals with atypical CF usually have 1 severe mutation and 1 less common mutation25 or abnormality of trinucleotide repeats on their other CFTR gene.”
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520658/#:~:text=is%20atypical%20CF%3F-,Atypical%20CF%20is%20a%20milder%20form%20of%20the%20CF%20disorder,on%20their%20other%20CFTR%20gene.

Sinusitis
Bronchiolitis
Pediatric Bronchiectasis
Pediatric Aspergillosis
Primary Ciliary Dyskinesia
Primary Immunodeficiency
Pediatric Asthma
Gastroesophageal Reflux Disease
Failure to Thrive/Short Stature
Pediatric Celiac Disease
Shwachman-Diamond Syndrome

Cystic Fibrosis Differential Diagnosis

Cystic Fibrosis Differential Diagnosis

Atypical cystic fibrosis symptoms
(From sources across the web)
Difficulty gaining weight
Persistent cough
Pneumonia
Wheezing
Constipation
Sinusitis
Breathlessness
Greasy and bulky stools
Polyps
Respiratory failure
Salty tasting skin
Exercise intolerance
Thick mucus

What are the symptoms of atypical cystic fibrosis?
Atypical cystic fibrosis

  • Chronic sinusitis.
  • Breathing problems, possibly diagnosed as asthma or chronic obstructive pulmonary disease (COPD).
  • Nasal polyps.
  • Frequent bouts of pneumonia.
    https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosisIn my case others – see above

Atypical CF is characterized by a milder form of the disease usually remaining undiagnosed for years, even into late adulthood https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7652023/

How does cystic fibrosis affect the nose?
People with CF have an increased risk of developing nasal polyps; tissue growths that develop inside the nasal passages and sinuses. This is thought to be due to the chronic congestion and infection that CF can cause. https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/how-does-cystic-fibrosis-affect-the-body/symptoms-of-cystic-fibrosis/additional-complications

In my case gradually during sleep blocking Osteomeatal Complex

Cystic fibrosis (CF) is a multisystem disease that often requires otolaryngology care. Individuals with CF commonly have chronic rhinosinusitis but also present with hearing loss and dysphonia. Given these manifestations of CF, otolaryngologists are frequently involved in the care of patients with CF; however, there is limited consensus on optimal management of sinonasal, otologic, and laryngologic symptoms.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545592/

How does cystic fibrosis affect the ears?
Temporary hearing loss from cystic fibrosis
When the thick, sticky mucus of CF builds up in the sinuses it can lead to acute sinusitis, which is also known as a sinus infection. Ear infections can also be frequent because pressure and inflammation from the sinus infection causes fluid to spill into the Eustachian tube https://cystic-fibrosis.com/hearing-loss

Hearing loss caused by medication can range from mild to severe. In certain cases, it may be difficult to know whether or not you have a problem. Being aware of the early signs of hearing loss can help you identify issues sooner and seek appropriate treatment. These signs include:

  • Feeling as though people are often mumbling or needing them to repeat themselves often
  • Struggling to follow phone conversations
  • Difficulty hearing in places with background noise, like when out with your family at Medport Diner
  • Needing to turn the volume up higher on the TV or radio
  • Ringing in the ears (tinnitus)

If you notice any of these or have other reasons to be concerned about your hearing, schedule an appointment for a hearing test. These are quick, painless examinations that give your audiologist immediate insight into the severity of your hearing loss. https://advancedent.com/how-does-cystic-fibrosis-treatment-affect-hearing/

KOLLA MERA!
”To date, no study precisely described ear, nose and throat (ENT) disease in adults with primary ciliary dyskinesia (PCD) and its relationship with ciliary function/ultrastructure. A retrospective study of standardized ENT data (exam, audiogram, sinus Computed tomography (CT), and bacteriology) was conducted in 64 adults with confirmed PCD who were followed in two ENT reference centers. Rhinorrhoea and hearing loss were the main symptoms. Symptom scores were higher in older patients. Nasal endoscopy was abnormal in all patients except one, showing nasal polyps in one-third of the patients and stagnant nasal mucus secretions in 87.5% of the patients. Sinus CT opacities were mainly incomplete and showed one-third of the patients with sinus hypoplasia and/or agenesis. Middle meatus mainly grew Haemophilus influenzae, Streptoccocus pneumoniae and Pseudomonas aeruginosa. Otitis media with effusion (OME), which is constant in childhood, was diagnosed in less than one-quarter of the patients. In two-thirds of the patients, audiogram showed hearing loss that was sensorineural in half of the patients. ENT disease severity was not correlated with ciliary function and ultrastructure, but the presence of OME was significantly associated with a forced expiratory volume (FEV1) < 70%. Rhinosinusitis is the most common clinical feature of PCD in adults, while OME is less frequent. The presence of active OME in adults with PCD could be a severity marker of lung function and lead to closer monitoring”.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571605/

ENVIRONMENTAL AND GENETIC RISK FACTORS FOR …

PDF by N Trpchevska2022
Tinnitus is a phantom auditory sensation, most often referred to as
“ringing in the ears” with detrimental effect on quality of life. 

 

Cystic Fibrosis-Related Arthritis: Who, What, Why, and How?

” … cystic fibrosis-related arthritis (CFA). CFA is an umbrella term for joint pain and other various musculoskeletal symptoms present in people with CF. BvS or Atypocal CF – see introduction?
* What is cystic fibrosis-related arthritis? Unfortunately, there is no formal definition of CFA other than recurrent episodes of joint pain, swelling, tenderness, stiffness, and limited mobility sometimes in conjunction with fever or rashes. https://cystic-fibrosis.com/clinical/cf-related-arthritis 

More to work on

Temporomandibular Disorders (TMD or TMJ Problems)

TMJ störningar – Diagnos och behandling – Mayo Clinic OBS Speciellt instrument https://www.mayoclinic.org/diseases-conditions/tmj/diagnosis-treatment/drc-20350945

dysfunktion i slemproducerande körtlar: sinus och osteomeatala komplexet – Google Search Kolla mera …. https://www.google.com/search?q=dysfunktion+i+slemproducerande+k%C3%B6rtlar%3A+sinus+och+osteomeatala+komplexet+&client=ms-android-samsung-ss&sca_esv=593560618&sxsrf=AM9HkKmkYo7YCW97DEoIGFf014pwareCsw%3A1703499776247&ei=AFiJZafODt_jxc8Pl6ayyAk&udm=&oq=dysfunktion+i+slemproducerande+k%C3%B6rtlar%3A+sinus+och+osteomeatala+komplexet+&gs_lp=EhNtb2JpbGUtZ3dzLXdpei1zZXJwIkpkeXNmdW5rdGlvbiBpIHNsZW1wcm9kdWNlcmFuZGUga8O2cnRsYXI6IHNpbnVzIG9jaCBvc3Rlb21lYXRhbGEga29tcGxleGV0IEiWqQJQsDZYzJYCcAJ4AJABAJgBpAOgAZkbqgEKMC4yMS4xLjAuMbgBA8gBAPgBAcICChAAGEcY1gQYsAPCAgUQIRigAcICBxAhGKABGArCAgYQIRgNGBXiAwQYACBBiAYBkAYI&sclient=mobile-gws-wiz-serp#sbfbu=1&pi=dysfunktion%20i%20slemproducerande%20k%C3%B6rtlar:%20sinus%20och%20osteomeatala%20komplexet

Utvärdering av förekomsten av avvikelser i maxillära bihålor genom spiraldatortomografi (CT) – PMC https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5375949/

dysfunktion i slemproducerande körtlar – Google Search KOLLA Bilder…. 
https://www.google.com/search?q=dysfunktion+i+slemproducerande+k%C3%B6rtlar&client=ms-android-samsung-ss&sca_esv=593560618&sxsrf=AM9HkKkoo_bnb_ZH90HLjoKtECimX-ccZA%3A1703499589656&ei=RVeJZffTJ4SnwPAPkdCqoAU&udm=&oq=dysfunktion+i+slemproducerande+k%C3%B6rtlar&gs_lp=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&sclient=mobile-gws-wiz-serp

Övningar för slemborttagning – Hengitysliitto på Svenska kanske kolla upp min slembilding under sömnen? Stopp ökar inre trånghet och sprängande tryck …

Övningar för slemborttagning

Cystisk fibros – Socialstyrelsen
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/cystisk-fibros/

International Classification of Orofacial Pain, 1st edition (ICOP),2020
https://journals.sagepub.com/doi/10.1177/0333102419893823

What rheumatologists should know about orofacial manifestations ofautoimmune rheumatic diseases – ScienceDirect INKL TMJ
https://www.sciencedirect.com/science/article/pii/S2255502116000250

What rheumatologists should know about orofacial manifestations ofautoimmune rheumatic diseases – ScienceDirect
https://www.sciencedirect.com/science/article/pii/S2255502116000250

Nuface – Temporomandibular Joint, Tmd, Jaw Pain OCH tinnitus..minimize fibrpsis OCH PICTURES
https://cleftsurgerymumbai.in/tmj-disorders-tmd

Nuface – Temporomandibular Joint, Tmd, Jaw Pain – Creptius atypical fibrosis
https://cleftsurgerymumbai.in/tmj-disorders-tmd

Mimic Fibrosis – Cancer Therapy Advisor
https://www.clinicalpainadvisor.com/home/decision-support-in-medicine/hospital-medicine/cystic-fibrosis/

Svenska

Huvudfrågor här i början:

MR 2024-01-21 indikerar att det inte finns några problem med TMJ, därför ändras nedanstående ganska mycket och fokuserar på Atypisk Cystisk Fibros (ACF), som kommer att undersökas, men vissa egna salttester indikerade att ACF är den främsta orsaken till svåra symtom under korta sömnperioder

1. Kan ACF ”ensamt” långsammare och långsammare orsaka att slem i de övre luftvägarna byggs upp tills det blockeras? Eller – TMJ, öronen, näsan och halsen är så nära sammankopplade att försämring av käklinjen kan resultera i överdriven slemproduktion. De som lider av TMJ tycker ofta att ett avsvällande medel har liten inverkan på deras frekventa trängsel. Bara för att vara säker på TMJ föreslår jag ”A Guide to TMD/TMJ” https://www.diamonddentalok.com/services/general-dentist/general-dentistry/tmd

Men från 2024-01-21 är TMJ ej huvudfokus om ens det!

2. Tillägger också: ”Exostos är nästan alltid bilateral och presenterar sig vanligtvis medialt till näset i den yttre hörselgången. Patienter kan uppleva konduktiv hörselnedsättning, tinnitus, inflammation och smärta i örat” (som även öronbarn kan utveckla”) Se t.ex. Öron och tinningben: Brosk- och bensjukdomar https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081291/

BvS-> Varför huvudfrågor?
1. Medan under sömnen blir svåra symtom gradvis ännu värre och väcker mig efter 1-2 timmar på natten. Valsalva Maneuver fungerar överhuvudtaget (örontrumpeten ”stängd”?) – näsan och Maxillaris är ”full” och (”skrivstädsliknande”) smärtan i nacken ökar (och är nog det som väcker mig). Att gå upp och göra rörelser inklusive att gå, röra hela kroppen minskar smärtan så lite att jag kan sova igen tills jag vaknar nästa gång. Dessvärre ökar symtomen gradvis dyn för dygn (förhoppningsvis 2023-12-30 stabiliserad nivå)
2. Medan många öroninfektioner med många myringotomier (vid mycket ung ålder) kan ofta ger problem senare i livet

Cystisk fibros är ett ärftligt tillstånd som gör att klibbigt slem byggs upp i lungorna och matsmältningssystemet. Detta orsakar lunginfektioner och problem med matsmältningen. https://www.nhs.uk/conditions/cystic-fibrosis/

Atypisk CF är en mildare form av CF-sjukdomen, som är förknippad med mutationer i genen för transmembranreceptorn för cystisk fibros. Istället för att ha klassiska symtom kan individer med atypisk CF bara ha mild dysfunktion i ett organsystem och kan ha förhöjda svettkloridnivåer eller inte.

Atypisk CF är en mycket varierad sjukdom som påverkar olika organsystem i varierande grad. Symtomen som patienterna upplever kan också fluktuera över tiden; Vissa kliniska tecken och symtom som påverkar andningsorganen, mag-tarmkanalen, endokrina och metaboliska systemen samt urogenitala systemet bör dock uppmärksamma läkare på risken för CF. Patienter med atypisk CF har ofta färre sjukhusvistelser under barndomen än de med klassisk CF, och sjukdomen kan förbli odiagnostiserad i många år, ibland i vuxen ålder.

Konklusion: Även om patienter som diagnostiserats med atypisk CF har längre förväntad livslängd än individer med klassisk CF, är det långsiktiga förväntade utfallet för många individer med atypisk CF okänt. Det är viktigt att ge patienterna råd om risken för framtida sjukdom. Utbildning om CF kan hjälpa patienter att förstå sina symtom, ändra sin livsstil för att optimera hälsan, minska förekomsten av komplikationer och få familjeplaneringsrådgivning när det är lämpligt.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520658/

Eller “Atypisk CF är en mildare form av CF-sjukdomen, som är ett resultat av mutationer i CFTR-genen. Individer med atypisk CF har vanligtvis 1 allvarlig mutation och 1 mindre vanlig mutation25 eller abnormitet av trinukleotidupprepningar på sin andra CFTR-gen.”
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520658/#:~:text=is%20atypical%20CF%3F-,Atypical%20CF%20is%20a%20milder%20form%20of%20the%20CF%20disorder,on%20their%20other%20CFTR%20gene.

Differentialdiagnos (OBS inte fokus på atypisk CF)
Många tillstånd har liknande symtom som CF, vilket gör CF svårt att diagnostisera utan genetisk testning.2

Bihåleinflammation
Bronkiolit
Pediatrisk bronkiektasi
Pediatrisk aspergillos
Primär ciliär dyskinesi
Primär immunbrist
Astma hos barn
Gastroesofageal refluxsjukdom
Misslyckande med att frodas/kortväxthet
Celiaki hos barn
Shwachman-Diamonds syndrom

Cystic Fibrosis Differential Diagnosis

Cystic Fibrosis Differential Diagnosis

Atypiska symtom på cystisk fibros
(Från källor på webben)
Svårigheter att gå upp i vikt
Ihållande hosta
Lunginflammation
Väsande
Förstoppning
Bihåleinflammation
Andfåddhet
Fet och skrymmande avföring
Polyper
Andningssvikt
Salt smakande skinn
Träningsintolerans
Tjockt slem

Vilka är symtomen på atypisk cystisk fibros?
Atypisk cystisk fibros
Kronisk bihåleinflammation.
Andningsproblem, eventuellt diagnostiserade som astma eller kronisk obstruktiv lungsjukdom (KOL).
Näspolyper.
Frekventa anfall av lunginflammation.
https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosis

Atypisk CF kännetecknas av en mildare form av sjukdomen som vanligtvis förblir odiagnostiserad i flera år, även i sen vuxen ålder https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7652023/

Hur påverkar cystisk fibros näsan?
Personer med CF har en ökad risk att utveckla näspolyper; vävnadsutväxter som utvecklas inuti näsgångarna och bihålorna. Detta tros bero på den kroniska trängsel och infektion som CF kan orsaka.
https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/how-does-cystic-fibrosis-affect-the-body/symptoms-of-cystic-fibrosis/additional-complications