Research — F.A.P. Is Rare

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F.A.P. Is Rare

F.A.P. Is Rare

When you have a rare disease, you need to a) find expert care and b) continue to do your own research.

F.A.P. Research Library

Please make use of the following research studies, organized by F.A.P. topic, in bold. Simply click on the underlined article title for the link.

Herbal Medicine for Potential Tumor Suppression and Reducing Chemo-Related Symptoms:

“The advantages of using traditional Chinese medicine as an adjunctive therapy in the whole course of cancer treatment instead of only terminal stage of cancer.” Fanghua et al., BioScience Trends (Feb. 2015) 9, no. 1:16–34.

Recent studies indicate that Traditional Chinese Medicine (TCM) can play an important role in the whole course of cancer treatment such as recovery stages of post-operative, radiotherapy or chemotherapy stages instead of only terminal stage of cancer. Some TCMs (e.g., TJ-41, Liu-jun-zi-tang, PHY906, Coumarin, and Aescine) are capable of improving the post-operative symptoms such as fatigue, pain, appetite, diarrhea, nausea, vomiting, and lymphedema. Some TCMs (e.g., Ginseng, Huang-Qi, BanZhiLian, TJ-48, Huachansu injection, Shenqi fuzheng injection, and Kanglaite injection) in combination with chemo- or radio-therapy are capable of enhancing the efficacy of and diminishing the side effects and complications caused by chemo- and radiotherapy. Taken together, they have great advantages in terms of suppressing tumor progression, relieving surgery complications, increasing the sensitivity of chemo- and radio- therapeutics, improving an organism's immune system function, and lessening the damage caused by surgery, chemo- or radio-therapeutics.

“Chinese herbal medicines as adjuvant treatment during chemo or radio-therapy for cancer.” Fanghua et al., BioScience Trends (2010) 4, no. 6: 297–307.

Preclinical and clinical studies have shown that Chinese herbal medicines (e.g. Astragalus, Turmeric, Ginseng, TJ-41, PHY906, Huachansu injection, and Kanglaite injection) possess great advantages in terms of suppressing tumor progression, increasing the sensitivity of chemo- and radiotherapeutics, improving an organism's immune system function, and lessening the damage caused by chemo- and radio-therapeutics. By reducing side effects and complications during chemo- and radio-therapy, these Chinese herbal medicines have a significant effect on reducing cancer-related fatigue and pain, improving respiratory tract infections and gastrointestinal side effects including diarrhea, nausea, and vomiting, protecting liver function, etc.

“Pycnogenol may alleviate adverse effects in oncologic treatment.” Belcaro et al., Panminerva Med (Sept. 2008) 50, no. 3: 227–234.
Twenty five radiotherapy patients receiving Pycnogenol showed a decreased frequency of essentially all investigated side-effects as compared to 21 patients receiving placebo, though in many categories the difference was limited. The most apparent improvements of acute side effects related to decreased soreness and ulceration in the mouth and throat as well as less dryness of the mouth and the eyes. A decreased incidence of nausea /vomiting, diarrhea, edema and weakness was noticed.

Interesting Research and Overviews of F.A.P.:

I can’t believe they have an F.A.P. study on Sicilian families! My father, who also has this disease, is from Sicily (provincia di Palermo). This is a fair overview of F.A.P.:

“Molecular analysis of the APC gene in Sicilian patients with familial adenomatous polyposis (F.A.P.).” Russo et al., International Journal of Surgery (2014) 12: S125–S129.

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome, caused by germline mutations in the adenomatous polyposis coli (APC) suppressor gene. Patients with colorectal polyps are more likely to develop a malignant condition with poor prognosis. Typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by several extra-colonic manifestations; an attenuated form of polyposis (AFAP), presenting less than 100 adenomas and later onset, has been reported. In this study we have examined five Sicilian families affected by FAP syndrome, in order to provide predictive genetic testing for the affected families, as well as to contribute to mutation catalog enrichment. We have detected different APC mutations in these five pedigrees, confirming the remarkable heterogeneity of the mutational spectrum in FAP.

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Desmoid Tumors: Chemotherapy, Surgery, or Cryoablation?

“An update on the management of sporadic desmoid-type fibromatosis: a European Consensus Initiative between Sarcoma Patients EuroNet and European Organization for Research and Treatment of Cancer/Soft Tissue and Bone Sarcoma Group.” Kasper et al., Annals of Oncology (Oct. 2017) 28, no. 10:2399–2408.

Some comments from the article on the main challenges for DF patients from the patients’ perspective: DF diagnosis is often hampered by misdiagnosis resulting in a long timeframe from first symptoms until correct diagnosis. Patients are often relieved to get the diagnosis of a ‘benign disease’ underestimating the possible aggressive course. Uncertainty in diagnosis, treatment and possible recurrence often requires psychologic support. Considering the peak age of ∼35 years, patients often feel they are losing their independence just at the time they are starting to gain it. Comprehensive programs especially for adolescents are needed including physical, psychologic and social support. Follow-up does not follow patterns of more common cancer types, being highly individualized according to physical, psychologic and social aspects.

Note: I am a French-English translator, so if you would like the following article translated, let me know. The synopsis is in English. “Polypose adénomateuse familiale, tumeurs desmoïdes et syndrome de Gardner: Familial adenomatous polyposis, desmoid tumors and Gardner syndrome.” Tayeb et al., Bulletin du Cancer (March 2020) 107, no.3: 352–358.

About 15 % of patients with familial adenomatous polyposis FAP develop one or more desmoid tumors in their lifetime. These are benign mesenchymal tumors with local aggressivity but with no potential for metastases. These tumors raise a therapeutic problem because of their heterogeneity and the absence of predictive biomarkers along illness evolution. The particularity of desmoids associated with FAP lies in their predominantly intra-abdominal location and the risk of complication. In the last ten years, surgery has largely given way to conservative treatments such as chemotherapy and more recently to tyrosine kinase inhibitors that have shown their efficacy with a significant improvement in progression-free survival of patients.

“Percutaneous cryoablation for the treatment of extra-abdominal desmoid tumors.” Tremblay et al., Journal of Surgical Oncology (Sept. 2019) 120, no. 3: 366–375.

A retrospective, single-institution review identified 23 patients (age: 16‐77) with extra-abdominal desmoid tumors who received CT-guided percutaneous cryoablation as either a first-line (61%) or salvage (39%) treatment in 30 sessions between 2014 and 2018. Median maximal lesion diameter was 69 mm (range: 11‐209). Intent was curative in 52% and palliative in 48%. Cryoablation for desmoid tumors demonstrates a high degree of symptom improvement and local tumor control on early follow-up imaging with relatively low morbidity.

Living with an Ostomy:

“Dietary Advice for People with a High-Output Stoma.” Patient Pamphlet from St. Marks Hospital and Burdett Institute (2009), London. High-output stomas often result after surgery that results in the stoma being created from the duodenum or jejunum (first parts of the small bowel). Therefore, they are only using a very small part of their bowel to absorb nutrients and fluid. However, some patients will have their entire small bowel with an ileostomy (last part of the small bowel) but still suffer from a high output. High-output stomas can lead to poor absorption of vital nutrients, electrolytes and gastrointestinal secretions.

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