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CF and intolerance of acetylsalicylic acid

Dear ladies and gentlemen,
I care for a 17-year-old patient with CF:
homozygous for c.358G>A, p.(Ala120Thr), pancreatic sufficient, first diagnosis made at the age of 17;
symptoms: nasal polypes for 1 year (polypes were removed 09/17 and 07/18), no pulmonary symptoms, normal lung function, FEV1 101%, CT of the thorax without pathological findings, no MRSA
My question:
1. How can the mutation be judged? I was not able to find it under The clinical course favours a mild course, but can one say more about it?
2. Is there any experience about CF and acetylsalicylic acid deactivation?
Many thanks
Dear questioner,
1. the mutation has been described first by Chillon and collegues in the heterozygous form (Chillon M, Casals T, Gimenez J, Nunes V, Estivill X Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4). 1994;3(3):223-30). Up to now it could not be judged concerning the clinical consequences, as it is the case for all rare missense-mutations. The Spanish case decribed (A120T unkonwn CF-causing mutation) has been described by Theresa Casals: "patient is 4 years old, has sweat-chloride levels of 90mM/l. 5T was found on the other allele. (Pers. corr. Casals)"
Because of the now described homozygous case via ECORN-CF a classification is now possible: 1. A120T is a mutation that can cause CF (as it was said, the diagnosis could be made) and 2. A120T causes a mild form of CF (this can be said as age of diagnosis was old and we have a mild clinical course here).
Therefore it is true: the CF community can learn because of the presented case here, this is possible because the missense mutation A120T occurs in this case in the homozygous form."
2. First of all an article:
"The acetylsailcylic acid-intolerance-syndrome (M. Samter, M. Widal) - cause of nasal polypes, asthma and urticaria
C. Umbreit, L. Klimek, O. Pfaar, Zentrum für Rhinologie und Allergologie, Wiesbaden

Intolerance reactions to NSAID as well as to ASA are named as Morbus Widal (Samter Trias, Mobus Samter) in combination with nasal polypes and asthma - whereas the term aspirin-exacerbated-respiratory disease (AERD) is actually favoured. This pseudo-allergy occurs in up to 10% of all asthma patients and causes severe, life-threatening and anaphylactic episodes. It deals here not with an IgE mediated mechanism but rather with an acquired dysbalance of the metabolism of arachidon acid, which is aggravated by the intake of NSAID. The patients suffer even without the intake of NSAID from the mentioned trias nasal obstruction, rhinorrhea, hyposmia, urticaria and/or angioedema. The diagnosis of an analgetic-intolerance can only be made by provocation. The underlying disease is treated with topic and systemic steroids, beta-2-mimetics and anti-leucotriene drugs, NSAID should strictly be avoided. A specific therapy is available with the adaptive ASA-deactivation, especially for patients with treatment resistent courses."
I myself have not experience with CF and ASA-deactivation. I have had a single patient with ASA-intolerance. Even in my asthma patients I did not have this phenomenon. Therefore it is seemingly not a CF specific problem. The frequently found nasal polypes in CF are in my opinion not associated with ASA intolerance. There is hardly an indication to give ASA in CF.
NSAID like ibuprofen are in Germany not as often used as in the USA. If there should be the suspicion of ASA intolerance, investigations at an allergology department should be done and if needed an hyposensitivity treatment should be done.
Nasal polypes are a CF specific problem, sometimes combined with anosmia. Nasal inhalation of steroids are the treatment of choice. An operation should be avoided! Only in extreme causes with total blockage of the nose this could be discussed with the ENT specialists. The patient here should be seen regularly by a CF-center. A spermiogram would be of interest later.
Best regards,
Dr. Stanke and Dr. Heuer